#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
FRG1B	284802	broad.mit.edu	37	20	29628282	29628282	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:29628282G>A	ENST00000278882.3	+	6	664	c.284G>A	c.(283-285)gGg>gAg	p.G95E	FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	95										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AATGAAGCAGGGGACATAGAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(283-285)gGg>gAg																																						SO:0001583	missense	0							g.chr20:29628282G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.284G>A	20.37:g.29628282G>A	ENSP00000278882:p.Gly95Glu					FRG1B_ENST00000358464.4_Missense_Mutation_p.G95E|FRG1B_ENST00000439954.2_Missense_Mutation_p.G100E	p.G95E							6	664	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.284G>A		.	.	.	.	.	.	.	.	.	.	g	18.02	3.529440	0.64860	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.56103	0.48	2.08	2.08	0.27032	Actin cross-linking (1);	0.051750	0.85682	D	0.000000	T	0.52092	0.1713	.	.	.	0.58432	D	0.999996	B;P	0.39940	0.309;0.696	P;P	0.46543	0.492;0.52	T	0.54221	-0.8326	9	0.45353	T	0.12	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	100;95	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	E	95;100;95	ENSP00000408863:G100E	ENSP00000278882:G95E	G	+	2	0	FRG1B	28241943	1.000000	0.71417	0.998000	0.56505	0.945000	0.59286	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GGG		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	70	0	0	0	1	0	4	70				
COL14A1	7373	broad.mit.edu	37	8	121238999	121238999	+	Silent	SNP	T	T	A	rs544685240		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:121238999T>A	ENST00000297848.3	+	16	2268	c.1998T>A	c.(1996-1998)acT>acA	p.T666T	COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Silent_p.T666T|COL14A1_ENST00000247781.3_Silent_p.T571T	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGGGGAAGACTGAGGAGGTGA	0.438																																						ENST00000297848.3																			0				NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119						c.(1996-1998)acT>acA		collagen, type XIV, alpha 1							69.0	63.0	65.0					8																	121238999		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121238999T>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1998T>A	8.37:g.121238999T>A						COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Silent_p.T571T|COL14A1_ENST00000309791.4_Silent_p.T666T|COL14A1_ENST00000432943.2_3'UTR	p.T666T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		16	2268	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		666			Fibronectin type-III 5.			Silent	SNP	ENST00000297848.3	37	c.1998T>A	CCDS34938.1																																																																																				0.438	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		6	48	0	0	0	1	0	6	48				
SND1	27044	broad.mit.edu	37	7	127721495	127721495	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:127721495C>T	ENST00000354725.3	+	18	2246	c.2052C>T	c.(2050-2052)ccC>ccT	p.P684P	MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	684					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						GCTACAAGCCCGTGTTTGTGA	0.597																																						ENST00000354725.3																			0				central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						c.(2050-2052)ccC>ccT		staphylococcal nuclease and tudor domain containing 1							157.0	106.0	124.0					7																	127721495		2203	4300	6503	SO:0001819	synonymous_variant	27044				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity	g.chr7:127721495C>T		CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2052C>T	7.37:g.127721495C>T							p.P684P	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN			18	2246	+			684					Q13122|Q96AG0	Silent	SNP	ENST00000354725.3	37	c.2052C>T	CCDS34747.1																																																																																				0.597	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349148.1	NM_014390		17	19	0	0	0	1	0	17	19				
GRIP2	80852	broad.mit.edu	37	3	14552718	14552718	+	RNA	SNP	C	C	T	rs371393195		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:14552718C>T	ENST00000273083.3	-	0	1952							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						ACCAGGTCCTCGCACTGCCGC	0.617																																						ENST00000273083.3																			0				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25								glutamate receptor interacting protein 2		C	LYS/GLU	1,4149		0,1,2074	73.0	78.0	76.0		2178	4.1	1.0	3		76	0,8446		0,0,4223	no	missense	GRIP2	NM_001080423.2	56	0,1,6297	TT,TC,CC		0.0,0.0241,0.0079	probably-damaging	727/1141	14552718	1,12595	2075	4223	6298			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14552718C>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14552718C>T										Q9C0E4	GRIP2_HUMAN			0	1952	-								Q8TEH9|Q9H7H3	RNA	SNP	ENST00000273083.3	37																																																																																						0.617	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		12	28	0	0	0	1	0	12	28				
PLEC	5339	broad.mit.edu	37	8	145006361	145006361	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:145006361C>G	ENST00000322810.4	-	17	2599	c.2430G>C	c.(2428-2430)aaG>aaC	p.K810N	PLEC_ENST00000356346.3_Missense_Mutation_p.K659N|PLEC_ENST00000354589.3_Missense_Mutation_p.K673N|PLEC_ENST00000357649.2_Missense_Mutation_p.K677N|PLEC_ENST00000398774.2_Missense_Mutation_p.K641N|PLEC_ENST00000354958.2_Missense_Mutation_p.K651N|PLEC_ENST00000527096.1_Missense_Mutation_p.K696N|PLEC_ENST00000345136.3_Missense_Mutation_p.K673N|PLEC_ENST00000436759.2_Missense_Mutation_p.K700N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	810	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTTGGAGCTCCTTGATCTTCT	0.711																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(2428-2430)aaG>aaC		plectin							24.0	27.0	26.0					8																	145006361		1937	4103	6040	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:145006361C>G	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.2430G>C	8.37:g.145006361C>G	ENSP00000323856:p.Lys810Asn					PLEC_ENST00000527096.1_Missense_Mutation_p.K696N|PLEC_ENST00000354958.2_Missense_Mutation_p.K651N|PLEC_ENST00000354589.3_Missense_Mutation_p.K673N|PLEC_ENST00000436759.2_Missense_Mutation_p.K700N|PLEC_ENST00000345136.3_Missense_Mutation_p.K673N|PLEC_ENST00000356346.3_Missense_Mutation_p.K659N|PLEC_ENST00000357649.2_Missense_Mutation_p.K677N|PLEC_ENST00000398774.2_Missense_Mutation_p.K641N	p.K810N	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			17	2599	-			810			Globular 1.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.2430G>C	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375951	0.24857	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21;-3.21	4.2	-0.0265	0.13930	.	0.169589	0.35096	U	0.003447	T	0.76716	0.4026	N	0.02296	-0.605	0.37134	D	0.901402	B;B;B;B;B;B;B;B	0.13594	0.005;0.005;0.005;0.003;0.005;0.008;0.005;0.005	B;B;B;B;B;B;B;B	0.09377	0.004;0.004;0.004;0.002;0.004;0.004;0.004;0.004	T	0.66240	-0.5973	10	0.06891	T	0.86	.	8.4305	0.32755	0.0:0.6072:0.0:0.3928	.	700;659;651;810;641;673;677;673	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	N	673;677;673;641;810;651;659;700;696	ENSP00000344848:K673N;ENSP00000350277:K677N;ENSP00000346602:K673N;ENSP00000381756:K641N;ENSP00000323856:K810N;ENSP00000347044:K651N;ENSP00000348702:K659N;ENSP00000388180:K700N;ENSP00000434583:K696N	ENSP00000323856:K810N	K	-	3	2	PLEC	145078349	0.410000	0.25376	0.993000	0.49108	0.558000	0.35554	0.197000	0.17197	0.060000	0.16281	0.453000	0.30009	AAG		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		44	29	0	0	0	1	0	44	29				
SPATS2	65244	broad.mit.edu	37	12	49912901	49912901	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:49912901A>G	ENST00000553127.1	+	12	1457	c.944A>G	c.(943-945)aAg>aGg	p.K315R	SPATS2_ENST00000321898.6_Missense_Mutation_p.K315R|SPATS2_ENST00000552918.1_Missense_Mutation_p.K315R			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	315						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTTCTAAAGAAGATGACTCAT	0.398																																						ENST00000553127.1																			0				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						c.(943-945)aAg>aGg		spermatogenesis associated, serine-rich 2							94.0	84.0	87.0					12																	49912901		2203	4300	6503	SO:0001583	missense	65244					cytoplasm		g.chr12:49912901A>G	AK023179	CCDS31794.1	12q13.12	2009-06-12							18650	protein-coding gene	gene with protein product		611667				11944913, 17989879	Standard	NM_023071		Approved	SPATA10, SCR59, FLJ13117	uc001rud.2	Q86XZ4		ENST00000553127.1:c.944A>G	12.37:g.49912901A>G	ENSP00000448228:p.Lys315Arg					SPATS2_ENST00000552918.1_Missense_Mutation_p.K315R|SPATS2_ENST00000321898.6_Missense_Mutation_p.K315R	p.K315R			Q86XZ4	SPAS2_HUMAN			12	1457	+			315					A8K8G9|Q9H7D4|Q9H8Y7|Q9H8Z8	Missense_Mutation	SNP	ENST00000553127.1	37	c.944A>G	CCDS31794.1	.	.	.	.	.	.	.	.	.	.	A	12.06	1.823280	0.32237	.	.	ENSG00000123352	ENST00000553127;ENST00000321898;ENST00000552918;ENST00000395063	.	.	.	5.65	5.65	0.86999	.	0.051535	0.85682	D	0.000000	T	0.48114	0.1482	L	0.33137	0.985	0.80722	D	1	P	0.35684	0.515	B	0.42112	0.376	T	0.42413	-0.9453	9	0.02654	T	1	-18.7319	14.1503	0.65378	1.0:0.0:0.0:0.0	.	315	Q86XZ4	SPAS2_HUMAN	R	315	.	ENSP00000326841:K315R	K	+	2	0	SPATS2	48199168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.610000	0.61155	2.288000	0.76882	0.528000	0.53228	AAG		0.398	SPATS2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404023.1	NM_023071		14	15	0	0	0	1	0	14	15				
STMN4	81551	broad.mit.edu	37	8	27099994	27099994	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:27099994A>G	ENST00000265770.7	-	3	165	c.29T>C	c.(28-30)aTg>aCg	p.M10T	STMN4_ENST00000519997.1_Start_Codon_SNP_p.M1T|STMN4_ENST00000523048.1_Missense_Mutation_p.M10T|STMN4_ENST00000519614.1_Missense_Mutation_p.M10T|STMN4_ENST00000350889.4_Missense_Mutation_p.M10T|STMN4_ENST00000522908.1_Missense_Mutation_p.M10T			Q9H169	STMN4_HUMAN	stathmin-like 4	10					regulation of microtubule polymerization or depolymerization (GO:0031110)	cell projection (GO:0042995)|Golgi apparatus (GO:0005794)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	Lomustine(DB01206)	GAGCTCCTTCATCTTCTCTTT	0.572																																						ENST00000350889.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11						c.(28-30)aTg>aCg		stathmin-like 4							89.0	84.0	86.0					8																	27099994		2203	4300	6503	SO:0001583	missense	81551				intracellular signal transduction			g.chr8:27099994A>G		CCDS6055.1, CCDS64851.1, CCDS64852.1, CCDS64854.1	8p21.2	2006-12-09			ENSG00000015592	ENSG00000015592			16078	protein-coding gene	gene with protein product						11230166	Standard	NM_001283054		Approved	RB3	uc003xfj.3	Q9H169	OTTHUMG00000099461	ENST00000265770.7:c.29T>C	8.37:g.27099994A>G	ENSP00000265770:p.Met10Thr					STMN4_ENST00000522908.1_Missense_Mutation_p.M10T|STMN4_ENST00000265770.7_Missense_Mutation_p.M10T|STMN4_ENST00000523048.1_Missense_Mutation_p.M10T|STMN4_ENST00000519614.1_Missense_Mutation_p.M10T|STMN4_ENST00000519997.1_Start_Codon_SNP_p.M1T	p.M10T	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)	3	142	-		Ovarian(32;0.00167)	10					B7Z2Z7|B7Z4I9|D3DSS8|D3DSS9|G5EA16|Q2TAB9	Missense_Mutation	SNP	ENST00000265770.7	37	c.29T>C		.	.	.	.	.	.	.	.	.	.	A	15.95	2.983663	0.53827	.	.	ENSG00000015592	ENST00000350889;ENST00000519997;ENST00000265770;ENST00000523048;ENST00000519614;ENST00000522908	.	.	.	5.03	5.03	0.67393	.	0.050900	0.85682	D	0.000000	T	0.55386	0.1917	M	0.61703	1.905	0.52099	D	0.999941	B;B;B;P;B;B	0.44734	0.364;0.018;0.257;0.842;0.023;0.257	B;B;B;B;B;B	0.40165	0.077;0.005;0.074;0.321;0.005;0.074	T	0.63673	-0.6584	9	0.87932	D	0	-1.3176	13.0283	0.58827	1.0:0.0:0.0:0.0	.	10;1;10;10;10;10	E7EVN3;B7Z2Z7;G5EA16;E5RIR6;Q9H169;Q9H169-2	.;.;.;.;STMN4_HUMAN;.	T	10;1;10;10;10;10	.	ENSP00000265770:M10T	M	-	2	0	STMN4	27155911	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.061000	0.93913	2.241000	0.73720	0.533000	0.62120	ATG		0.572	STMN4-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000375941.1	NM_030795		15	14	0	0	0	1	0	15	14				
OMP	4975	broad.mit.edu	37	11	76813927	76813927	+	Silent	SNP	G	G	A	rs376088397		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:76813927G>A	ENST00000529803.1	+	1	42	c.42G>A	c.(40-42)ccG>ccA	p.P14P	CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000529629.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	14					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						TGGACATGCCGCTGGTCCTGG	0.692																																						ENST00000529803.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						c.(40-42)ccG>ccA		olfactory marker protein		G	,	0,4134		0,0,2067	14.0	19.0	18.0		,42	-5.1	1.0	11		18	2,8304		0,2,4151	no	intron,coding-synonymous	CAPN5,OMP	NM_004055.4,NM_006189.1	,	0,2,6218	AA,AG,GG		0.0241,0.0,0.0161	,	,14/164	76813927	2,12438	2067	4153	6220	SO:0001819	synonymous_variant	4975				sensory perception of smell|synaptic transmission			g.chr11:76813927G>A	U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.42G>A	11.37:g.76813927G>A						CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000278559.3_Intron	p.P14P	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN			1	42	+			14					Q562G2	Silent	SNP	ENST00000529803.1	37	c.42G>A	CCDS53682.1																																																																																				0.692	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1	NM_006189		21	14	0	0	0	1	0	21	14				
CDHR1	92211	broad.mit.edu	37	10	85972083	85972083	+	Missense_Mutation	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:85972083G>T	ENST00000372117.3	+	15	1805	c.1702G>T	c.(1702-1704)Gat>Tat	p.D568Y	CDHR1_ENST00000332904.3_Missense_Mutation_p.D568Y|CDHR1_ENST00000440770.2_Missense_Mutation_p.D272Y	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	568	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACACTGCTGGATGTCAATGA	0.517																																						ENST00000372117.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1702-1704)Gat>Tat		cadherin-related family member 1							175.0	153.0	161.0					10																	85972083		2203	4300	6503	SO:0001583	missense	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85972083G>T	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1702G>T	10.37:g.85972083G>T	ENSP00000361189:p.Asp568Tyr					CDHR1_ENST00000440770.2_Missense_Mutation_p.D272Y|CDHR1_ENST00000332904.3_Missense_Mutation_p.D568Y	p.D568Y	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN			15	1805	+			568			Cadherin 5.		Q69YZ8|Q8IXY5	Missense_Mutation	SNP	ENST00000372117.3	37	c.1702G>T	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107113	0.56291	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.71698	-0.29;-0.29;-0.59	4.9	4.9	0.64082	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.90823	0.7118	H	0.98833	4.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.982	D	0.94599	0.7794	10	0.87932	D	0	-11.0599	17.2	0.86903	0.0:0.0:1.0:0.0	.	272;568;568	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	Y	568;568;272	ENSP00000331063:D568Y;ENSP00000361189:D568Y;ENSP00000415980:D272Y	ENSP00000331063:D568Y	D	+	1	0	CDHR1	85962063	1.000000	0.71417	0.955000	0.39395	0.071000	0.16799	9.349000	0.97066	2.441000	0.82636	0.655000	0.94253	GAT		0.517	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	NM_033100		46	95	1	0	4.01344e-20	1	4.35868e-20	46	95				
FCHO2	115548	broad.mit.edu	37	5	72364497	72364497	+	Silent	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:72364497T>G	ENST00000430046.2	+	19	1586	c.1470T>G	c.(1468-1470)ccT>ccG	p.P490P	FCHO2_ENST00000512348.1_Silent_p.P457P|FCHO2_ENST00000341845.6_Silent_p.P490P	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	490	Ser-rich.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TCAGCCCACCTGTAACTTCCA	0.413																																						ENST00000430046.2																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17						c.(1468-1470)ccT>ccG		FCH domain only 2							106.0	106.0	106.0					5																	72364497		1898	4118	6016	SO:0001819	synonymous_variant	115548							g.chr5:72364497T>G	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1470T>G	5.37:g.72364497T>G						FCHO2_ENST00000341845.6_Silent_p.P490P|FCHO2_ENST00000512348.1_Silent_p.P457P	p.P490P	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)	19	1586	+		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)	490			Ser-rich.		A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Silent	SNP	ENST00000430046.2	37	c.1470T>G	CCDS47230.1																																																																																				0.413	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142		38	23	0	0	0	1	0	38	23				
FBLN2	2199	broad.mit.edu	37	3	13663415	13663415	+	Intron	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:13663415G>A	ENST00000295760.7	+	8	2224				FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000492059.1_Splice_Site_p.D766N|FBLN2_ENST00000404922.3_Splice_Site_p.D766N	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2						extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GAAGTGCGTGGGTAAGCCAGG	0.617																																						ENST00000404922.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.e9+1		fibulin 2							45.0	50.0	48.0					3																	13663415		2106	4211	6317	SO:0001627	intron_variant	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13663415G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2155+2084G>A	3.37:g.13663415G>A						FBLN2_ENST00000492059.1_Splice_Site_p.D766_splice|FBLN2_ENST00000535798.1_Intron|FBLN2_ENST00000295760.7_Intron	p.D766_splice	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		9	2415	+			764			EGF-like 4; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Splice_Site	SNP	ENST00000295760.7	37	c.2296_splice	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.560904	0.86335	.	.	ENSG00000163520	ENST00000404922;ENST00000492059	D;D	0.99051	-5.37;-5.37	5.09	4.2	0.49525	.	0.050316	0.85682	D	0.000000	D	0.99077	0.9683	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99601	1.0978	10	0.87932	D	0	.	12.9284	0.58272	0.0:0.0:0.8374:0.1626	.	766	P98095-2	.	N	766	ENSP00000384169:D766N;ENSP00000420042:D766N	ENSP00000384169:D766N	D	+	1	0	FBLN2	13638416	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.317000	0.79018	1.109000	0.41680	0.579000	0.79373	GAC		0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019		9	14	0	0	0	1	0	9	14				
SULT1A1	6817	broad.mit.edu	37	16	28618359	28618359	+	Missense_Mutation	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:28618359A>T	ENST00000395607.1	-	5	685	c.412T>A	c.(412-414)Tcc>Acc	p.S138T	SULT1A1_ENST00000314752.7_Missense_Mutation_p.S138T|SULT1A1_ENST00000395609.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.S60T|SULT1A1_ENST00000569554.1_Missense_Mutation_p.S138T	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	138					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	TGGTAGTAGGAAACTGCCACA	0.582																																						ENST00000395609.1																			0				endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(412-414)Tcc>Acc		sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1							225.0	162.0	184.0					16																	28618359		2197	4300	6497	SO:0001583	missense	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28618359A>T	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.412T>A	16.37:g.28618359A>T	ENSP00000378971:p.Ser138Thr					SULT1A1_ENST00000569554.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000395607.1_Missense_Mutation_p.S138T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.S138T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.S60T	p.S138T			P50225	ST1A1_HUMAN			7	1170	-			138					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	ENST00000395607.1	37	c.412T>A	CCDS32420.1	.	.	.	.	.	.	.	.	.	.	a	13.95	2.390725	0.42410	.	.	ENSG00000196502	ENST00000314752;ENST00000350842;ENST00000395609;ENST00000395607	D;D;D;D	0.98264	-4.83;-4.83;-4.83;-4.83	2.42	2.42	0.29668	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000001	D	0.99193	0.9720	H	0.98155	4.16	0.43632	D	0.996023	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.97110	1.0;1.0;0.994	D	0.98391	1.0563	10	0.87932	D	0	.	8.7393	0.34547	1.0:0.0:0.0:0.0	.	90;60;138	Q59GG0;P50225-2;P50225	.;.;ST1A1_HUMAN	T	138;60;138;138	ENSP00000321988:S138T;ENSP00000329399:S60T;ENSP00000378972:S138T;ENSP00000378971:S138T	ENSP00000321988:S138T	S	-	1	0	SULT1A1	28525860	1.000000	0.71417	0.975000	0.42487	0.026000	0.11368	8.376000	0.90138	1.374000	0.46228	0.254000	0.18369	TCC		0.582	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		36	119	0	0	0	1	0	36	119				
ZBTB7C	201501	broad.mit.edu	37	18	45556036	45556036	+	Silent	SNP	C	C	T	rs373107783		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr18:45556036C>T	ENST00000588982.1	-	4	1956	c.1455G>A	c.(1453-1455)gcG>gcA	p.A485A	ZBTB7C_ENST00000332053.2_Silent_p.A485A|ZBTB7C_ENST00000590800.1_Silent_p.A485A|ZBTB7C_ENST00000586438.1_Silent_p.A485A|ZBTB7C_ENST00000535628.2_Silent_p.A485A			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	485							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CGGCCCTCCACGCAGCAGGCT	0.736																																						ENST00000588982.1																			0				endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						c.(1453-1455)gcG>gcA		zinc finger and BTB domain containing 7C																																				SO:0001819	synonymous_variant	201501					intracellular	nucleic acid binding|zinc ion binding	g.chr18:45556036C>T	Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.1455G>A	18.37:g.45556036C>T						ZBTB7C_ENST00000535628.2_Silent_p.A485A|ZBTB7C_ENST00000590800.1_Silent_p.A485A|ZBTB7C_ENST00000586438.1_Silent_p.A485A|ZBTB7C_ENST00000332053.2_Silent_p.A485A	p.A485A			A1YPR0	ZBT7C_HUMAN			4	1956	-			485					O73453	Silent	SNP	ENST00000588982.1	37	c.1455G>A	CCDS32830.1																																																																																				0.736	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1	NM_001039360		6	1	0	0	0	1	0	6	1				
MMP1	4312	broad.mit.edu	37	11	102661492	102661492	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:102661492C>G	ENST00000315274.6	-	9	1309	c.1242G>C	c.(1240-1242)atG>atC	p.M414I	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	414					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|proteolysis (GO:0006508)|viral process (GO:0016032)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	Marimastat(DB00786)	CATGTGCTATCATTTTGGGAT	0.383																																						ENST00000315274.6																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30						c.(1240-1242)atG>atC		matrix metallopeptidase 1 (interstitial collagenase)							203.0	191.0	195.0					11																	102661492		2203	4299	6502	SO:0001583	missense	4312				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102661492C>G	X54925	CCDS8322.1	11q21-q22	2014-01-30	2005-08-08		ENSG00000196611	ENSG00000196611	3.4.24.7	"""Endogenous ligands"""	7155	protein-coding gene	gene with protein product		120353	"""matrix metalloproteinase 1 (interstitial collagenase)"""	CLG			Standard	NM_002421		Approved		uc001phi.2	P03956	OTTHUMG00000048192	ENST00000315274.6:c.1242G>C	11.37:g.102661492C>G	ENSP00000322788:p.Met414Ile					WTAPP1_ENST00000525739.2_RNA	p.M414I	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)	9	1309	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	414			Hemopexin-like 3.		P08156	Missense_Mutation	SNP	ENST00000315274.6	37	c.1242G>C	CCDS8322.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.588890	0.28357	.	.	ENSG00000196611	ENST00000315274	T	0.02421	4.3	5.96	3.46	0.39613	Hemopexin/matrixin (2);	0.920129	0.09441	N	0.801796	T	0.02156	0.0067	N	0.20530	0.585	0.22479	N	0.999063	B	0.02656	0.0	B	0.04013	0.001	T	0.50491	-0.8822	10	0.19147	T	0.46	.	4.8049	0.13316	0.0:0.5332:0.1492:0.3176	.	414	P03956	MMP1_HUMAN	I	414	ENSP00000322788:M414I	ENSP00000322788:M414I	M	-	3	0	MMP1	102166702	0.000000	0.05858	0.976000	0.42696	0.991000	0.79684	-0.797000	0.04570	0.514000	0.28300	0.655000	0.94253	ATG		0.383	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		28	19	0	0	0	1	0	28	19				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	99	0	0	0	1	0	4	99				
OR11H6	122748	broad.mit.edu	37	14	20692036	20692036	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:20692036A>G	ENST00000315519.2	+	1	246	c.168A>G	c.(166-168)acA>acG	p.T56T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		ATCTCCTGACACTGCTAGGGA	0.478																																						ENST00000315519.2																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29						c.(166-168)acA>acG		olfactory receptor, family 11, subfamily H, member 6							142.0	134.0	137.0					14																	20692036		2203	4300	6503	SO:0001819	synonymous_variant	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692036A>G		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.168A>G	14.37:g.20692036A>G							p.T56T	NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	246	+	all_cancers(95;0.00108)		56					Q6IF08	Silent	SNP	ENST00000315519.2	37	c.168A>G	CCDS32033.1																																																																																				0.478	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			15	60	0	0	0	1	0	15	60				
DOC2A	8448	broad.mit.edu	37	16	30021385	30021385	+	Silent	SNP	G	G	A	rs533248931		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:30021385G>A	ENST00000350119.4	-	2	349	c.159C>T	c.(157-159)ccC>ccT	p.P53P	DOC2A_ENST00000564979.1_Silent_p.P53P|DOC2A_ENST00000567824.1_5'Flank|DOC2A_ENST00000564944.1_Silent_p.P53P	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	53	Interaction with UNC13D and DYNLT1.				nervous system development (GO:0007399)|regulation of calcium ion-dependent exocytosis (GO:0017158)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|lysosome (GO:0005764)|membrane (GO:0016020)|neuron projection (GO:0043005)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						CCAGATgggcgggggcctccc	0.721																																						ENST00000350119.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						c.(157-159)ccC>ccT		double C2-like domains, alpha																																				SO:0001819	synonymous_variant	8448				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity	g.chr16:30021385G>A	D31897	CCDS10666.1	16p11.2	2014-07-02			ENSG00000149927	ENSG00000149927		"""Synaptotagmins"""	2985	protein-coding gene	gene with protein product		604567				7826360, 9736751	Standard	NM_003586		Approved		uc002dvn.3	Q14183	OTTHUMG00000132109	ENST00000350119.4:c.159C>T	16.37:g.30021385G>A						DOC2A_ENST00000564944.1_Silent_p.P53P|DOC2A_ENST00000564979.1_Silent_p.P53P	p.P53P	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN			2	349	-			53			Interaction with UNC13D and DYNLT1.		B4DEJ2|H3BNH6|Q6P4G4|Q7Z5G0|Q8IVX0	Silent	SNP	ENST00000350119.4	37	c.159C>T	CCDS10666.1																																																																																				0.721	DOC2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255148.2	NM_003586		31	22	0	0	0	1	0	31	22				
CLCN2	1181	broad.mit.edu	37	3	184071184	184071184	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:184071184C>T	ENST00000265593.4	-	17	2053	c.1882G>A	c.(1882-1884)Gag>Aag	p.E628K	CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000457512.1_Missense_Mutation_p.E628K|CLCN2_ENST00000434054.2_Missense_Mutation_p.E584K|CLCN2_ENST00000344937.7_Missense_Mutation_p.E611K	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	628	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGTGAACGCTCGATGGAGCCC	0.632																																						ENST00000265593.4																			0				breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1882-1884)Gag>Aag		chloride channel, voltage-sensitive 2	Lubiprostone(DB01046)						21.0	23.0	22.0					3																	184071184		2201	4296	6497	SO:0001583	missense	1181					chloride channel complex	voltage-gated chloride channel activity	g.chr3:184071184C>T	S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1882G>A	3.37:g.184071184C>T	ENSP00000265593:p.Glu628Lys					CLCN2_ENST00000344937.7_Missense_Mutation_p.E611K|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000434054.2_Missense_Mutation_p.E584K|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.E628K	p.E628K	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		17	2053	-	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		628			CBS 1.		B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	ENST00000265593.4	37	c.1882G>A	CCDS3263.1	.	.	.	.	.	.	.	.	.	.	c	36	5.822591	0.96989	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31	5.52	5.52	0.82312	Cystathionine beta-synthase, core (1);	0.156175	0.56097	D	0.000027	D	0.91036	0.7180	L	0.52126	1.63	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.994;0.997;0.994;0.994	P;P;P;P;P	0.61658	0.783;0.783;0.892;0.783;0.783	D	0.91161	0.4961	10	0.56958	D	0.05	-25.2283	19.0475	0.93027	0.0:1.0:0.0:0.0	.	584;628;611;628;584	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	K	628;611;584;628	ENSP00000265593:E628K;ENSP00000345056:E611K;ENSP00000400425:E584K;ENSP00000391928:E628K	ENSP00000265593:E628K	E	-	1	0	CLCN2	185553878	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.713000	0.84693	2.595000	0.87683	0.563000	0.77884	GAG		0.632	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345571.1			14	35	0	0	0	1	0	14	35				
ABCC1	4363	broad.mit.edu	37	16	16149958	16149958	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:16149958A>G	ENST00000399410.3	+	12	1658	c.1483A>G	c.(1483-1485)Atg>Gtg	p.M495V	ABCC1_ENST00000399408.2_Missense_Mutation_p.M495V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M495V|ABCC1_ENST00000346370.5_Missense_Mutation_p.M495V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M495V|ABCC1_ENST00000349029.5_Missense_Mutation_p.M495V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	495	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGTGGCCCACATGAAGAGCAA	0.473																																						ENST00000399408.2																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(1483-1485)Atg>Gtg		ATP-binding cassette, sub-family C (CFTR/MRP), member 1	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						91.0	89.0	90.0					16																	16149958		1981	4162	6143	SO:0001583	missense	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16149958A>G	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1483A>G	16.37:g.16149958A>G	ENSP00000382342:p.Met495Val					ABCC1_ENST00000349029.5_Missense_Mutation_p.M495V|ABCC1_ENST00000346370.5_Missense_Mutation_p.M495V|ABCC1_ENST00000351154.5_Missense_Mutation_p.M495V|ABCC1_ENST00000345148.5_Missense_Mutation_p.M495V|ABCC1_ENST00000399410.3_Missense_Mutation_p.M495V	p.M495V			P33527	MRP1_HUMAN			12	1658	+			495			ABC transmembrane type-1 1.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	ENST00000399410.3	37	c.1483A>G	CCDS42122.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.973987	0.74246	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	5.32	5.32	0.75619	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.93986	0.8074	M	0.79475	2.455	0.53005	D	0.999965	D;D;P;P;D;B;B	0.61697	0.99;0.982;0.538;0.93;0.982;0.047;0.126	D;D;P;P;D;B;B	0.72982	0.979;0.961;0.492;0.79;0.961;0.259;0.168	D	0.94692	0.7875	10	0.87932	D	0	-39.7413	14.4746	0.67537	1.0:0.0:0.0:0.0	.	495;495;495;495;495;495;495	P33527-6;P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;.;MRP1_HUMAN;.	V	495;495;495;495;495;495;169	ENSP00000382342:M495V;ENSP00000382340:M495V;ENSP00000263019:M495V;ENSP00000263017:M495V;ENSP00000263014:M495V;ENSP00000263016:M495V	ENSP00000263014:M495V	M	+	1	0	ABCC1	16057459	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	8.915000	0.92740	2.007000	0.58848	0.459000	0.35465	ATG		0.473	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996		11	41	0	0	0	1	0	11	41				
ABCB5	340273	broad.mit.edu	37	7	20682948	20682948	+	Silent	SNP	C	C	T	rs548933985		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:20682948C>T	ENST00000404938.2	+	6	1108	c.456C>T	c.(454-456)atC>atT	p.I152I		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	152	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACAGGACATCGGCTGGTTTG	0.398																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(454-456)atC>atT		ATP-binding cassette, sub-family B (MDR/TAP), member 5							88.0	82.0	83.0					7																	20682948		1568	3582	5150	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20682948C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.456C>T	7.37:g.20682948C>T							p.I152I	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			6	1108	+			336			ABC transporter 1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.456C>T	CCDS55090.1																																																																																				0.398	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		5	37	0	0	0	1	0	5	37				
AKR1C3	8644	broad.mit.edu	37	10	5141029	5141029	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:5141029A>G	ENST00000380554.3	+	4	1057	c.405A>G	c.(403-405)ggA>ggG	p.G135G	AKR1C3_ENST00000605149.1_Silent_p.G112G|AKR1C3_ENST00000439082.2_Silent_p.G16G	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	135					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	ATGAAAATGGAAAAGTAATAT	0.413																																						ENST00000380554.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(403-405)ggA>ggG		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)						87.0	85.0	85.0					10																	5141029		2203	4300	6503	SO:0001819	synonymous_variant	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5141029A>G	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	ENST00000380554.3:c.405A>G	10.37:g.5141029A>G						AKR1C3_ENST00000439082.2_Silent_p.G16G|AKR1C3_ENST00000605149.1_Silent_p.G112G	p.G135G	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN			4	1057	+			135					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Silent	SNP	ENST00000380554.3	37	c.405A>G	CCDS7063.1																																																																																				0.413	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	NM_003739		8	13	0	0	0	1	0	8	13				
DNAH1	25981	broad.mit.edu	37	3	52366244	52366244	+	Missense_Mutation	SNP	C	C	T	rs188467919	byFrequency	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:52366244C>T	ENST00000420323.2	+	8	1381	c.1120C>T	c.(1120-1122)Cgt>Tgt	p.R374C		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	374	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTTCGCACAACGTGTGGTCCA	0.602													C|||	2	0.000399361	0.0	0.0014	5008	,	,		21047	0.0		0.0	False		,,,				2504	0.001					ENST00000420323.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(1120-1122)Cgt>Tgt		dynein, axonemal, heavy chain 1							67.0	74.0	72.0					3																	52366244		2148	4244	6392	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52366244C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1120C>T	3.37:g.52366244C>T	ENSP00000401514:p.Arg374Cys						p.R374C	NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	8	1381	+			374			Stem (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.1120C>T	CCDS46842.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.48	3.399499	0.62177	.	.	ENSG00000114841	ENST00000420323	T	0.39229	1.09	5.81	5.81	0.92471	.	0.000000	0.47852	D	0.000207	T	0.71099	0.3300	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.76691	-0.2866	10	0.66056	D	0.02	.	14.1121	0.65129	0.2638:0.7362:0.0:0.0	.	374;374	C9JXH6;Q9P2D7-3	.;.	C	374	ENSP00000401514:R374C	ENSP00000401514:R374C	R	+	1	0	DNAH1	52341284	1.000000	0.71417	0.953000	0.39169	0.399000	0.30720	2.281000	0.43452	2.757000	0.94681	0.462000	0.41574	CGT		0.602	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		12	14	0	0	0	1	0	12	14				
TARBP1	6894	broad.mit.edu	37	1	234541826	234541826	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:234541826G>C	ENST00000040877.1	-	24	3811	c.3812C>G	c.(3811-3813)gCc>gGc	p.A1271G	TARBP1_ENST00000483404.1_5'UTR	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1271					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AACTATAAGGGCTTGCTTCAG	0.363																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3811-3813)gCc>gGc		TAR (HIV-1) RNA binding protein 1							85.0	85.0	85.0					1																	234541826		2203	4300	6503	SO:0001583	missense	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234541826G>C		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3812C>G	1.37:g.234541826G>C	ENSP00000040877:p.Ala1271Gly					TARBP1_ENST00000483404.1_5'UTR	p.A1271G	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		24	3811	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1271					Q9H581	Missense_Mutation	SNP	ENST00000040877.1	37	c.3812C>G	CCDS1601.1	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027611	0.54790	.	.	ENSG00000059588	ENST00000040877	T	0.32515	1.45	4.29	4.29	0.51040	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.62201	-0.6904	10	0.59425	D	0.04	-1.8448	16.8926	0.86091	0.0:0.0:1.0:0.0	.	1271	Q13395	TARB1_HUMAN	G	1271	ENSP00000040877:A1271G	ENSP00000040877:A1271G	A	-	2	0	TARBP1	232608449	1.000000	0.71417	0.978000	0.43139	0.443000	0.32047	7.642000	0.83385	2.219000	0.72066	0.462000	0.41574	GCC		0.363	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646		13	46	0	0	0	1	0	13	46				
NFATC1	4772	broad.mit.edu	37	18	77171011	77171011	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr18:77171011G>A	ENST00000427363.2	+	2	736	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.V246I|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000591814.1_Missense_Mutation_p.V246I|NFATC1_ENST00000329101.4_Missense_Mutation_p.V233I|NFATC1_ENST00000592223.1_Missense_Mutation_p.V233I|NFATC1_ENST00000253506.5_Missense_Mutation_p.V246I|NFATC1_ENST00000318065.5_Missense_Mutation_p.V233I|NFATC1_ENST00000542384.1_Missense_Mutation_p.V246I|NFATC1_ENST00000586434.1_Missense_Mutation_p.V233I			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	246	3 X SP repeats.				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V233I(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCGCGCCAGCGTCACTGAGGA	0.711																																					GBM(151;1210 2593 28719 45011)	ENST00000253506.5																			1	Substitution - Missense(1)	p.V233I(1)	lung(1)	NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40						c.(736-738)Gtc>Atc		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1																																				SO:0001583	missense	4772				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr18:77171011G>A	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.736G>A	18.37:g.77171011G>A	ENSP00000389377:p.Val246Ile					NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.V246I|NFATC1_ENST00000329101.4_Missense_Mutation_p.V233I|NFATC1_ENST00000591814.1_Missense_Mutation_p.V246I|NFATC1_ENST00000586434.1_Missense_Mutation_p.V233I|NFATC1_ENST00000592223.1_Missense_Mutation_p.V233I|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.V246I|NFATC1_ENST00000427363.2_Missense_Mutation_p.V246I|NFATC1_ENST00000318065.5_Missense_Mutation_p.V233I	p.V246I	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	2	1105	+		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)	246			3 X SP repeats.		B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	ENST00000427363.2	37	c.736G>A		.	.	.	.	.	.	.	.	.	.	G	0.009	-1.799850	0.00611	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.75367	-0.93;-0.93;-0.93	5.05	-3.02	0.05446	.	0.589016	0.17957	N	0.156304	T	0.37812	0.1017	N	0.02345	-0.59	0.40508	D	0.980717	B;B;B;B;B;B;B	0.20261	0.024;0.024;0.024;0.024;0.024;0.043;0.024	B;B;B;B;B;B;B	0.16722	0.016;0.016;0.01;0.007;0.007;0.01;0.01	T	0.43491	-0.9388	10	0.02654	T	1	-34.1493	8.3114	0.32073	0.5774:0.1102:0.3124:0.0	.	233;233;246;246;246;233;246	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	I	246;246;246;233;233;210	ENSP00000253506:V246I;ENSP00000442435:V246I;ENSP00000327850:V233I	ENSP00000253506:V246I	V	+	1	0	NFATC1	75271999	0.890000	0.30428	0.036000	0.18154	0.115000	0.19883	0.846000	0.27682	-0.474000	0.06862	-0.140000	0.14226	GTC		0.711	NFATC1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000450507.1	NM_172390		25	8	0	0	0	1	0	25	8				
YLPM1	56252	broad.mit.edu	37	14	75265354	75265354	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:75265354C>T	ENST00000325680.7	+	5	3478	c.3354C>T	c.(3352-3354)ggC>ggT	p.G1118G	YLPM1_ENST00000238571.3_Silent_p.G923G|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	923	Arg-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGAGGGCTGGCAGTCAGGAGA	0.642																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(3352-3354)ggC>ggT		YLP motif containing 1							38.0	45.0	43.0					14																	75265354		1921	4119	6040	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75265354C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.3354C>T	14.37:g.75265354C>T						YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.G923G	p.G1118G	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	3478	+			923			Arg-rich.		P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	c.3354C>T	CCDS45135.1																																																																																				0.642	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		29	23	0	0	0	1	0	29	23				
CDH10	1008	broad.mit.edu	37	5	24537572	24537572	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:24537572A>C	ENST00000264463.4	-	3	950	c.443T>G	c.(442-444)aTc>aGc	p.I148S		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	148	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATGAATTTTGATCACAAACTC	0.418										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(442-444)aTc>aGc		cadherin 10, type 2 (T2-cadherin)							156.0	151.0	153.0					5																	24537572		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537572A>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.443T>G	5.37:g.24537572A>C	ENSP00000264463:p.Ile148Ser	HNSCC(23;0.051)					p.I148S	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	950	-			148			Cadherin 1.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.443T>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.443200	0.83993	.	.	ENSG00000040731	ENST00000264463	T	0.69685	-0.42	5.82	5.82	0.92795	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.048095	0.85682	D	0.000000	D	0.86301	0.5900	M	0.93594	3.435	0.51767	D	0.999936	D	0.76494	0.999	D	0.87578	0.998	D	0.89805	0.3978	10	0.87932	D	0	.	15.3558	0.74425	1.0:0.0:0.0:0.0	.	148	Q9Y6N8	CAD10_HUMAN	S	148	ENSP00000264463:I148S	ENSP00000264463:I148S	I	-	2	0	CDH10	24573329	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.339000	0.96797	2.225000	0.72522	0.455000	0.32223	ATC		0.418	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		27	108	0	0	0	1	0	27	108				
OR14I1	401994	broad.mit.edu	37	1	248844931	248844931	+	Missense_Mutation	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:248844931T>G	ENST00000342623.3	-	1	698	c.675A>C	c.(673-675)agA>agC	p.R225S		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						CTGAAGGGATTCTGAGCACCG	0.488																																						ENST00000342623.3																			0				NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						c.(673-675)agA>agC		olfactory receptor, family 14, subfamily I, member 1							82.0	85.0	84.0					1																	248844931		2203	4300	6503	SO:0001583	missense	401994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248844931T>G		CCDS31125.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000189181	ENSG00000189181		"""GPCR / Class A : Olfactory receptors"""	19575	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily BU, member 1"""	OR5BU1P, OR5BU1			Standard	NM_001004734		Approved		uc001ieu.1	A6ND48	OTTHUMG00000040378	ENST00000342623.3:c.675A>C	1.37:g.248844931T>G	ENSP00000339726:p.Arg225Ser						p.R225S	NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN			1	698	-			225						Missense_Mutation	SNP	ENST00000342623.3	37	c.675A>C	CCDS31125.1	.	.	.	.	.	.	.	.	.	.	.	13.03	2.114597	0.37339	.	.	ENSG00000189181	ENST00000342623	T	0.00249	8.44	3.49	-6.97	0.01616	GPCR, rhodopsin-like superfamily (1);	0.130874	0.30771	N	0.008920	T	0.00178	0.0005	M	0.87547	2.89	0.09310	N	1	B	0.15719	0.014	B	0.19666	0.026	T	0.53968	-0.8363	10	0.72032	D	0.01	.	2.4437	0.04500	0.141:0.4983:0.1166:0.244	.	225	A6ND48	O14I1_HUMAN	S	225	ENSP00000339726:R225S	ENSP00000339726:R225S	R	-	3	2	OR14I1	246911554	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-2.251000	0.01186	-1.627000	0.01550	0.443000	0.29094	AGA		0.488	OR14I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097128.1	NM_001004734		16	44	0	0	0	1	0	16	44				
CCDC22	28952	broad.mit.edu	37	X	49098537	49098537	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:49098537C>G	ENST00000376227.3	+	3	454	c.284C>G	c.(283-285)cCt>cGt	p.P95R	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	95										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CCCAGTGAGCCTGACCTCCGA	0.607																																						ENST00000376227.3																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						c.(283-285)cCt>cGt		coiled-coil domain containing 22							91.0	63.0	72.0					X																	49098537		2203	4300	6503	SO:0001583	missense	28952							g.chrX:49098537C>G	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.284C>G	X.37:g.49098537C>G	ENSP00000365401:p.Pro95Arg					CCDC22_ENST00000496651.1_3'UTR	p.P95R	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN			3	454	+			95					A8K7G1	Missense_Mutation	SNP	ENST00000376227.3	37	c.284C>G	CCDS14322.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.386810	0.82902	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	4.98	4.98	0.66077	.	0.117769	0.64402	D	0.000019	T	0.66479	0.2793	L	0.34521	1.04	0.51482	D	0.999925	D;P	0.89917	1.0;0.898	D;P	0.81914	0.995;0.537	T	0.67616	-0.5625	9	0.48119	T	0.1	-16.7155	15.9853	0.80147	0.0:1.0:0.0:0.0	.	95;95	B4DLA4;O60826	.;CCD22_HUMAN	R	95	.	ENSP00000365401:P95R	P	+	2	0	CCDC22	48985481	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.760000	0.62235	2.288000	0.76882	0.597000	0.82753	CCT		0.607	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008		31	8	0	0	0	1	0	31	8				
CHD5	26038	broad.mit.edu	37	1	6228223	6228223	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:6228223C>T	ENST00000262450.3	-	2	293	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0	Interaction with ASNA1/TRC40.				tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTTCTTCTTCCGCTTCCCTTT	0.592																																						ENST00000262450.3																			0				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16						c.(193-195)cGg>cAg		chromodomain helicase DNA binding protein 5							150.0	147.0	148.0					1																	6228223		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6228223C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.194G>A	1.37:g.6228223C>T	ENSP00000262450:p.Arg65Gln					CHD5_ENST00000378021.1_5'UTR	p.R65Q	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	2	293	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	65			Lys-rich.		A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.194G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643548	0.67244	.	.	ENSG00000116254	ENST00000262450	D	0.91577	-2.87	4.9	4.9	0.64082	.	0.167775	0.23393	U	0.048675	D	0.88727	0.6515	L	0.50333	1.59	0.80722	D	1	D	0.57571	0.98	B	0.44108	0.441	D	0.89741	0.3933	10	0.56958	D	0.05	-23.9777	14.7953	0.69873	0.0:1.0:0.0:0.0	.	65	Q8TDI0	CHD5_HUMAN	Q	65	ENSP00000262450:R65Q	ENSP00000262450:R65Q	R	-	2	0	CHD5	6150810	0.999000	0.42202	0.985000	0.45067	0.910000	0.53928	4.172000	0.58243	2.245000	0.73994	0.313000	0.20887	CGG		0.592	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		18	79	0	0	0	1	0	18	79				
OR5I1	10798	broad.mit.edu	37	11	55703549	55703549	+	Missense_Mutation	SNP	C	C	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:55703549C>A	ENST00000301532.3	-	1	327	c.328G>T	c.(328-330)Gca>Tca	p.A110S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	110					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TCTGTATCTGCAAAAGTACAG	0.438																																						ENST00000301532.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(328-330)Gca>Tca		olfactory receptor, family 5, subfamily I, member 1							42.0	44.0	44.0					11																	55703549		2201	4293	6494	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703549C>A	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.328G>T	11.37:g.55703549C>A	ENSP00000301532:p.Ala110Ser						p.A110S	NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN			1	327	-			110					Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.328G>T	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.395260	0.42512	.	.	ENSG00000167825	ENST00000301532	T	0.00392	7.58	4.84	3.93	0.45458	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000248	T	0.00468	0.0015	L	0.33710	1.025	0.28196	N	0.927556	D	0.69078	0.997	D	0.75020	0.985	T	0.57260	-0.7842	10	0.45353	T	0.12	.	7.8045	0.29193	0.0:0.8083:0.0:0.1917	.	110	Q13606	OR5I1_HUMAN	S	110	ENSP00000301532:A110S	ENSP00000301532:A110S	A	-	1	0	OR5I1	55460125	0.000000	0.05858	0.967000	0.41034	0.054000	0.15201	0.825000	0.27393	1.155000	0.42497	0.637000	0.83480	GCA		0.438	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		9	22	1	0	3.09899e-07	1	3.16159e-07	9	22				
CTSZ	1522	broad.mit.edu	37	20	57571752	57571752	+	Missense_Mutation	SNP	C	C	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:57571752C>A	ENST00000217131.5	-	5	861	c.743G>T	c.(742-744)tGg>tTg	p.W248L		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	248					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACTGATGCCCCACCCAGCCAC	0.448																																						ENST00000217131.5																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10						c.(742-744)tGg>tTg		cathepsin Z							125.0	114.0	117.0					20																	57571752		2203	4300	6503	SO:0001583	missense	1522				proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity	g.chr20:57571752C>A	AF032906	CCDS13474.1	20q13.32	2012-02-10			ENSG00000101160	ENSG00000101160		"""Cathepsins"""	2547	protein-coding gene	gene with protein product	"""cathepsin X"", ""carboxypeptidase LB"", ""cathepsin IV"", ""cathepsin B2"", ""cathepsin Y"", ""cathepsin Z1"", ""cysteine-type carboxypeptidase"", ""lysosomal carboxypeptidase B"""	603169				9642240	Standard	NM_001336		Approved	CTSX	uc002yai.2	Q9UBR2	OTTHUMG00000032858	ENST00000217131.5:c.743G>T	20.37:g.57571752C>A	ENSP00000217131:p.Trp248Leu						p.W248L	NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	Colorectal(105;0.109)		5	861	-	all_lung(29;0.00711)		248					B2RC40|O75331|Q9UQV5|Q9UQV6	Missense_Mutation	SNP	ENST00000217131.5	37	c.743G>T	CCDS13474.1	.	.	.	.	.	.	.	.	.	.	C	17.11	3.305131	0.60305	.	.	ENSG00000101160	ENST00000217131	T	0.53640	0.61	5.57	4.63	0.57726	Peptidase C1A, papain C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.78013	0.4217	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85632	0.1271	10	0.87932	D	0	.	15.8466	0.78899	0.1369:0.8631:0.0:0.0	.	248;248	Q5U000;Q9UBR2	.;CATZ_HUMAN	L	248	ENSP00000217131:W248L	ENSP00000217131:W248L	W	-	2	0	CTSZ	57005147	1.000000	0.71417	0.915000	0.36163	0.014000	0.08584	7.616000	0.83018	1.344000	0.45657	0.655000	0.94253	TGG		0.448	CTSZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079899.1	NM_001336		26	52	1	0	1.1804e-14	1	1.24188e-14	26	52				
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr21:11058322C>T	ENST00000470054.1	-	0	325							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							92.0	70.0	77.0					21																	11058322		692	1591	2283			85319							g.chr21:11058322C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058322C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	325	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.383	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		4	104	0	0	0	1	0	4	104				
PROSER1	80209	broad.mit.edu	37	13	39597212	39597212	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr13:39597212C>T	ENST00000352251.3	-	8	1453	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.R185Q	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	207	Pro-rich.																TGCATGTGGTCGGCATGGAGG	0.348																																						ENST00000352251.3																			0											c.(619-621)cGa>cAa		proline and serine rich 1							167.0	166.0	166.0					13																	39597212		2203	4300	6503	SO:0001583	missense	80209							g.chr13:39597212C>T	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.620G>A	13.37:g.39597212C>T	ENSP00000332034:p.Arg207Gln					PROSER1_ENST00000350125.3_Missense_Mutation_p.R185Q|PROSER1_ENST00000484434.2_Intron	p.R207Q	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN			8	1453	-			207			Pro-rich.		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.620G>A	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694348	0.88830	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.58940	0.35;0.3	5.68	4.84	0.62591	.	.	.	.	.	T	0.63283	0.2498	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.61697	0.99;0.99	P;P	0.50825	0.651;0.651	T	0.64681	-0.6350	8	.	.	.	-13.4992	13.8458	0.63466	0.0:0.9267:0.0:0.0733	.	185;207	A6NJ97;Q86XN7	.;PRSR1_HUMAN	Q	207;185	ENSP00000332034:R207Q;ENSP00000339123:R185Q	.	R	-	2	0	PROSER1	38495212	1.000000	0.71417	0.998000	0.56505	0.697000	0.40408	7.126000	0.77201	1.417000	0.47077	0.655000	0.94253	CGA		0.348	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		24	11	0	0	0	1	0	24	11				
CRISP1	167	broad.mit.edu	37	6	49814267	49814267	+	Missense_Mutation	SNP	G	G	A	rs139194307		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:49814267G>A	ENST00000335847.4	-	5	502	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	134	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTCATCATCCGTTGTTGTCCA	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20949	0.0		0.0	False		,,,				2504	0.0					ENST00000335847.4																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27						c.(400-402)aCg>aTg		cysteine-rich secretory protein 1		G	MET/THR,MET/THR,MET/THR	4,4402	8.1+/-20.4	0,4,2199	435.0	342.0	374.0		401,401,401	-1.7	0.0	6	dbSNP_134	374	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	CRISP1	NM_001131.2,NM_001205220.1,NM_170609.1	81,81,81	0,5,6498	AA,AG,GG		0.0116,0.0908,0.0384	benign,benign,benign	134/250,134/250,134/179	49814267	5,13001	2203	4300	6503	SO:0001583	missense	167				fusion of sperm to egg plasma membrane	extracellular space		g.chr6:49814267G>A	D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.401C>T	6.37:g.49814267G>A	ENSP00000338276:p.Thr134Met					CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M	p.T134M	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN			5	502	-	Lung NSC(77;0.0358)		134					B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	ENST00000335847.4	37	c.401C>T	CCDS4931.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.407392	0.25378	9.08E-4	1.16E-4	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15	5.04	-1.68	0.08212	CAP domain (3);	0.423075	0.17524	N	0.171152	T	0.03053	0.0090	M	0.87269	2.87	0.09310	N	1	B;B	0.32829	0.161;0.386	B;B	0.25759	0.024;0.063	T	0.28332	-1.0047	9	.	.	.	.	1.6413	0.02753	0.3404:0.1558:0.3826:0.1212	.	134;134	P54107-2;P54107	.;CRIS1_HUMAN	M	134	ENSP00000425020:T134M;ENSP00000338276:T134M;ENSP00000348044:T134M;ENSP00000331317:T134M;ENSP00000427589:T134M;ENSP00000441798:T134M	.	T	-	2	0	CRISP1	49922226	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.721000	0.00811	-0.338000	0.08413	0.561000	0.74099	ACG		0.398	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040875.2	NM_001131		14	67	0	0	0	1	0	14	67				
PHKA2	5256	broad.mit.edu	37	X	18929042	18929042	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:18929042G>C	ENST00000379942.4	-	20	2839	c.2174C>G	c.(2173-2175)gCc>gGc	p.A725G		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	725					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTTACGGTGGGCACTTAGAAC	0.358																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2173-2175)gCc>gGc		phosphorylase kinase, alpha 2 (liver)							140.0	134.0	136.0					X																	18929042		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18929042G>C		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2174C>G	X.37:g.18929042G>C	ENSP00000369274:p.Ala725Gly						p.A725G	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			20	2839	-	Hepatocellular(33;0.183)		725					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2174C>G	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	10.03	1.239928	0.22711	.	.	ENSG00000044446	ENST00000379942	D	0.90955	-2.76	5.75	0.00934	0.14079	Glycoside hydrolase 15-related (1);	0.650775	0.17084	N	0.187677	D	0.83294	0.5223	L	0.45581	1.43	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.67007	-0.5779	10	0.24483	T	0.36	0.0038	6.1231	0.20164	0.2092:0.2445:0.5463:0.0	.	725	P46019	KPB2_HUMAN	G	725	ENSP00000369274:A725G	ENSP00000369274:A725G	A	-	2	0	PHKA2	18838963	0.645000	0.27286	0.068000	0.19968	0.873000	0.50193	0.730000	0.26043	-0.146000	0.11274	-0.208000	0.12717	GCC		0.358	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		62	20	0	0	0	1	0	62	20				
AOC1	26	broad.mit.edu	37	7	150558050	150558050	+	Missense_Mutation	SNP	C	C	T	rs368330728		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:150558050C>T	ENST00000493429.1	+	7	2593	c.2009C>T	c.(2008-2010)aCg>aTg	p.T670M	AOC1_ENST00000360937.4_Missense_Mutation_p.T670M|AOC1_ENST00000416793.2_Missense_Mutation_p.T689M|AOC1_ENST00000467291.1_Missense_Mutation_p.T670M|AOC1_ENST00000480582.1_3'UTR			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	670					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	GCCTGGGTGACGGTGGGCTTC	0.602																																						ENST00000493429.1																			0											c.(2008-2010)aCg>aTg		amine oxidase, copper containing 1		C	MET/THR	0,4070		0,0,2035	56.0	64.0	62.0		2009	5.0	0.9	7		62	1,8381		0,1,4190	no	missense	ABP1	NM_001091.2	81	0,1,6225	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	670/752	150558050	1,12451	2035	4191	6226	SO:0001583	missense	26							g.chr7:150558050C>T	AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2009C>T	7.37:g.150558050C>T	ENSP00000418614:p.Thr670Met					AOC1_ENST00000360937.4_Missense_Mutation_p.T670M|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000416793.2_Missense_Mutation_p.T689M|AOC1_ENST00000467291.1_Missense_Mutation_p.T670M	p.T670M							7	2593	+								C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	ENST00000493429.1	37	c.2009C>T	CCDS43679.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438104	0.83885	0.0	1.19E-4	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	5.01	5.01	0.66863	Copper amine oxidase, C-terminal (3);	0.672998	0.15143	N	0.278144	T	0.34221	0.0890	M	0.91818	3.245	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.30736	-0.9968	10	0.87932	D	0	-53.4982	15.8232	0.78676	0.0:1.0:0.0:0.0	.	689;670	C9J690;P19801	.;ABP1_HUMAN	M	670;670;670;689;546	ENSP00000418614:T670M;ENSP00000418328:T670M;ENSP00000354193:T670M;ENSP00000411613:T689M	ENSP00000354193:T670M	T	+	2	0	ABP1	150188983	1.000000	0.71417	0.898000	0.35279	0.957000	0.61999	7.367000	0.79558	2.323000	0.78572	0.484000	0.47621	ACG		0.602	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350628.1	NM_001091		33	35	0	0	0	1	0	33	35				
GPR39	2863	broad.mit.edu	37	2	133174753	133174753	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:133174753G>A	ENST00000329321.3	+	1	607	c.138G>A	c.(136-138)ctG>ctA	p.L46L		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	46					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGGGCCTTCTGGGGAACAGCG	0.517																																						ENST00000329321.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(136-138)ctG>ctA		G protein-coupled receptor 39							135.0	123.0	127.0					2																	133174753		2203	4300	6503	SO:0001819	synonymous_variant	2863					integral to plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr2:133174753G>A	AF034633	CCDS2170.1	2q21-q22	2012-08-21			ENSG00000183840	ENSG00000183840		"""GPCR / Class A : Orphans"""	4496	protein-coding gene	gene with protein product		602886				9441746	Standard	NM_001508		Approved		uc002ttl.3	O43194	OTTHUMG00000131679	ENST00000329321.3:c.138G>A	2.37:g.133174753G>A							p.L46L	NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN			1	607	+			46					B2RC12|B6V9G4|Q08AS2|Q53R01	Silent	SNP	ENST00000329321.3	37	c.138G>A	CCDS2170.1																																																																																				0.517	GPR39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254582.1			60	11	0	0	0	1	0	60	11				
CARD11	84433	broad.mit.edu	37	7	2962374	2962374	+	Silent	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:2962374G>A	ENST00000396946.4	-	17	2566	c.2163C>T	c.(2161-2163)ggC>ggT	p.G721G		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	721	PDZ.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTGCCTCTCGCCTCGGATGC	0.617			Mis		DLBCL																																	ENST00000396946.4				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		0				NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150						c.(2161-2163)ggC>ggT		caspase recruitment domain family, member 11							121.0	82.0	95.0					7																	2962374		2203	4300	6503	SO:0001819	synonymous_variant	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2962374G>A	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2163C>T	7.37:g.2962374G>A							p.G721G	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	17	2566	-		Ovarian(82;0.0115)	721			PDZ.		A4D1Z7|Q2NKN7|Q548H3	Silent	SNP	ENST00000396946.4	37	c.2163C>T	CCDS5336.2																																																																																				0.617	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		21	45	0	0	0	1	0	21	45				
NEFM	4741	broad.mit.edu	37	8	24771770	24771770	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:24771770G>A	ENST00000221166.5	+	1	1246	c.464G>A	c.(463-465)cGc>cAc	p.R155H	RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.R155H|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.R155H			P07197	NFM_HUMAN	neurofilament, medium polypeptide	155	Coil 1B.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CAGGAGATCCGCGAGCTGCGC	0.652																																						ENST00000221166.5																			0				breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36						c.(463-465)cGc>cAc		neurofilament, medium polypeptide							25.0	28.0	27.0					8																	24771770		2200	4299	6499	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24771770G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.464G>A	8.37:g.24771770G>A	ENSP00000221166:p.Arg155His					NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.R155H|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.R155H	p.R155H			P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	1246	+		Prostate(55;0.157)	155			Coil 1B.|Rod.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.464G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.168187	0.78339	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.82984	-1.67;-1.67;-1.67	4.76	4.76	0.60689	Filament (1);	0.000000	0.46442	D	0.000292	D	0.87985	0.6316	L	0.49778	1.585	0.50813	D	0.99989	P;D	0.76494	0.951;0.999	P;P	0.62491	0.701;0.903	D	0.89496	0.3760	10	0.87932	D	0	.	18.1311	0.89602	0.0:0.0:1.0:0.0	.	155;155	E7EMV2;P07197	.;NFM_HUMAN	H	155	ENSP00000221166:R155H;ENSP00000427872:R155H;ENSP00000410137:R155H	ENSP00000221166:R155H	R	+	2	0	NEFM	24827675	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	4.523000	0.60545	2.340000	0.79590	0.467000	0.42956	CGC		0.652	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382		20	9	0	0	0	1	0	20	9				
BCRP7	100133163	broad.mit.edu	37	22	18845990	18845990	+	3'UTR	SNP	C	C	T	rs200186747		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr22:18845990C>T	ENST00000412938.1	+	0	3348																											ACCTCCATCCCGTCCTGCGCA	0.582																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18845990C>T																												ENST00000412938.1:c.*3345C>T	22.37:g.18845990C>T														0	3348	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.582	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			9	32	0	0	0	1	0	9	32				
BCRP7	100133163	broad.mit.edu	37	22	18845998	18845998	+	3'UTR	SNP	G	G	A	rs201503410		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr22:18845998G>A	ENST00000412938.1	+	0	3356																											CCCGTCCTGCGCAGGCCGACA	0.607																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18845998G>A																												ENST00000412938.1:c.*3353G>A	22.37:g.18845998G>A														0	3356	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.607	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			8	43	0	0	0	1	0	8	43				
TRO	7216	broad.mit.edu	37	X	54955077	54955077	+	Silent	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:54955077C>T	ENST00000173898.7	+	12	2032	c.1920C>T	c.(1918-1920)cgC>cgT	p.R640R	TRO_ENST00000375041.2_Silent_p.R243R|TRO_ENST00000319167.8_Silent_p.R640R|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Silent_p.R171R|TRO_ENST00000399736.1_Silent_p.R243R|TRO_ENST00000375022.4_Silent_p.R640R	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	640	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGCAGTACCGCGAGGCAGTGG	0.512																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(1918-1920)cgC>cgT		trophinin							50.0	53.0	52.0					X																	54955077		2101	4226	6327	SO:0001819	synonymous_variant	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955077C>T	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1920C>T	X.37:g.54955077C>T						TRO_ENST00000399736.1_Silent_p.R243R|TRO_ENST00000375022.4_Silent_p.R640R|TRO_ENST00000375041.2_Silent_p.R243R|TRO_ENST00000420798.2_Silent_p.R171R|TRO_ENST00000319167.8_Silent_p.R640R	p.R640R	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	2032	+			640			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Silent	SNP	ENST00000173898.7	37	c.1920C>T	CCDS43959.1																																																																																				0.512	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		37	5	0	0	0	1	0	37	5				
HLA-DQA1	3117	broad.mit.edu	37	6	32610504	32610504	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:32610504G>A	ENST00000343139.5	+	4	833	c.731G>A	c.(730-732)cGt>cAt	p.R244H	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.R244H|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.R244H	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	243					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGGCCTGCGTTCAGTTGGT	0.537																																						ENST00000343139.5																			0				NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						c.(730-732)cGt>cAt		major histocompatibility complex, class II, DQ alpha 1																																				SO:0001583	missense	3117				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32610504G>A		CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.731G>A	6.37:g.32610504G>A	ENSP00000339398:p.Arg244His					HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.R244H|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.R244H	p.R244H	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN			4	833	+			243					O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	Missense_Mutation	SNP	ENST00000343139.5	37	c.731G>A	CCDS4752.1	.	.	.	.	.	.	.	.	.	.	.	8.378	0.836850	0.16891	.	.	ENSG00000196735	ENST00000343139;ENST00000395364;ENST00000395363;ENST00000374949	T;T;T	0.02085	4.46;4.46;4.46	4.08	4.08	0.47627	.	0.584335	0.14861	U	0.294094	T	0.01835	0.0058	M	0.83312	2.635	0.09310	N	1	B	0.21821	0.061	B	0.22386	0.039	T	0.27536	-1.0071	10	0.59425	D	0.04	.	7.8841	0.29640	0.111:0.0:0.889:0.0	.	244	G4XQK2	.	H	244	ENSP00000339398:R244H;ENSP00000378767:R244H;ENSP00000364087:R244H	ENSP00000339398:R244H	R	+	2	0	HLA-DQA1	32718482	0.923000	0.31300	0.127000	0.21898	0.200000	0.23975	1.636000	0.37144	2.282000	0.76494	0.643000	0.83706	CGT		0.537	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122		65	122	0	0	0	1	0	65	122				
TMCO5A	145942	broad.mit.edu	37	15	38229143	38229143	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:38229143A>C	ENST00000319669.4	+	3	338	c.236A>C	c.(235-237)cAg>cCg	p.Q79P	TMCO5A_ENST00000540944.1_Missense_Mutation_p.Q79P|TMCO5A_ENST00000559502.1_Missense_Mutation_p.Q79P|TMCO5A_ENST00000558158.1_Missense_Mutation_p.Q79P	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	79						integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						AGAGCCTTGCAGGAGCTGGAG	0.488																																						ENST00000558158.1																			0				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						c.(235-237)cAg>cCg		transmembrane and coiled-coil domains 5A							100.0	108.0	106.0					15																	38229143		2200	4297	6497	SO:0001583	missense	145942					integral to membrane		g.chr15:38229143A>C	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.236A>C	15.37:g.38229143A>C	ENSP00000327234:p.Gln79Pro					TMCO5A_ENST00000319669.4_Missense_Mutation_p.Q79P|TMCO5A_ENST00000540944.1_Missense_Mutation_p.Q79P|TMCO5A_ENST00000559502.1_Missense_Mutation_p.Q79P	p.Q79P			Q8N6Q1	TMC5A_HUMAN			4	390	+			79					Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	c.236A>C	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	A	15.50	2.852446	0.51270	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.52	4.52	0.55395	.	0.115213	0.39615	N	0.001302	T	0.69387	0.3105	M	0.68317	2.08	0.37176	D	0.903251	D;D	0.67145	0.99;0.996	P;D	0.63877	0.885;0.919	T	0.75850	-0.3172	9	0.62326	D	0.03	-5.4903	10.5441	0.45050	1.0:0.0:0.0:0.0	.	79;79	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	P	79	.	ENSP00000327234:Q79P	Q	+	2	0	TMCO5A	36016435	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	1.029000	0.30140	2.254000	0.74563	0.533000	0.62120	CAG		0.488	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		24	6	0	0	0	1	0	24	6				
GP2	2813	broad.mit.edu	37	16	20331092	20331092	+	Splice_Site	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:20331092T>C	ENST00000381362.4	-	7	944		c.e7-2		GP2_ENST00000381360.5_Splice_Site|GP2_ENST00000341642.5_Splice_Site|GP2_ENST00000573897.1_Splice_Site|GP2_ENST00000302555.5_Splice_Site	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)						antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTGATTTCTCTTTGGCAAAAA	0.388																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.e6-2		glycoprotein 2 (zymogen granule membrane)							344.0	333.0	337.0					16																	20331092		2203	4300	6503	SO:0001630	splice_region_variant	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331092T>C	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.868-2A>G	16.37:g.20331092T>C						GP2_ENST00000381362.4_Splice_Site|GP2_ENST00000341642.5_Splice_Site|GP2_ENST00000573897.1_Splice_Site|GP2_ENST00000381360.5_Splice_Site				P55259	GP2_HUMAN			6	1008	-								A6NFM9|A6NJA8|Q13338|Q9UIF1	Splice_Site	SNP	ENST00000381362.4	37		CCDS42128.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652866	0.67472	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4373	0.61092	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GP2	20238593	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	5.256000	0.65468	2.057000	0.61298	0.533000	0.62120	.		0.388	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	Intron	56	56	0	0	0	1	0	56	56				
MMEL1	79258	broad.mit.edu	37	1	2541172	2541172	+	Missense_Mutation	SNP	C	C	T	rs548411329		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:2541172C>T	ENST00000378412.3	-	5	552	c.391G>A	c.(391-393)Gag>Aag	p.E131K	MMEL1_ENST00000502556.1_Missense_Mutation_p.E131K|MMEL1_ENST00000288709.6_Missense_Mutation_p.E122K			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	131						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GAGTTGGTCTCAGGGATCACG	0.617													c|||	1	0.000199681	0.0	0.0	5008	,	,		18889	0.001		0.0	False		,,,				2504	0.0					ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(364-366)Gag>Aag		membrane metallo-endopeptidase-like 1							102.0	81.0	88.0					1																	2541172		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2541172C>T	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.391G>A	1.37:g.2541172C>T	ENSP00000367668:p.Glu131Lys					MMEL1_ENST00000378412.3_Missense_Mutation_p.E131K|MMEL1_ENST00000502556.1_Missense_Mutation_p.E131K	p.E122K	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	5	604	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	131					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.364G>A	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	c	36	5.718000	0.96839	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	T;T;T	0.74526	-0.85;-0.85;-0.85	5.29	5.29	0.74685	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.84370	0.5457	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.85886	0.1425	10	0.87932	D	0	-44.3727	17.8954	0.88886	0.0:1.0:0.0:0.0	.	131	Q495T6	MMEL1_HUMAN	K	131;122;131;131	ENSP00000288709:E122K;ENSP00000367668:E131K;ENSP00000422492:E131K	ENSP00000288709:E122K	E	-	1	0	MMEL1	2531032	1.000000	0.71417	0.983000	0.44433	0.957000	0.61999	7.639000	0.83342	2.452000	0.82932	0.555000	0.69702	GAG		0.617	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		14	41	0	0	0	1	0	14	41				
EPHB2	2048	broad.mit.edu	37	1	23232558	23232558	+	Missense_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:23232558A>G	ENST00000400191.3	+	10	1862	c.1844A>G	c.(1843-1845)gAa>gGa	p.E615G	EPHB2_ENST00000374627.1_Missense_Mutation_p.E610G|EPHB2_ENST00000374632.3_Missense_Mutation_p.E616G|EPHB2_ENST00000374630.3_Missense_Mutation_p.E615G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	615					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		TTTGCCAAGGAAATTGACATC	0.532																																						ENST00000400191.3																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(1843-1845)gAa>gGa		EPH receptor B2							107.0	93.0	97.0					1																	23232558		2203	4300	6503	SO:0001583	missense	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23232558A>G	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.1844A>G	1.37:g.23232558A>G	ENSP00000383053:p.Glu615Gly					EPHB2_ENST00000374632.3_Missense_Mutation_p.E616G|EPHB2_ENST00000374627.1_Missense_Mutation_p.E610G|EPHB2_ENST00000374630.3_Missense_Mutation_p.E615G	p.E615G	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	10	1862	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	615					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.1844A>G		.	.	.	.	.	.	.	.	.	.	A	28.8	4.948671	0.92660	.	.	ENSG00000133216	ENST00000374625;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T	0.54279	0.58;0.58;0.58;0.58	5.01	5.01	0.66863	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	M	0.93507	3.425	0.80722	D	1	P;D;D;D	0.89917	0.951;1.0;1.0;1.0	P;D;D;D	0.74674	0.534;0.963;0.963;0.984	D	0.84430	0.0576	10	0.87932	D	0	.	14.0348	0.64638	1.0:0.0:0.0:0.0	.	557;615;633;616	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	G	557;615;615;616;610	ENSP00000363761:E615G;ENSP00000383053:E615G;ENSP00000363763:E616G;ENSP00000363758:E610G	ENSP00000363755:E557G	E	+	2	0	EPHB2	23105145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.087000	0.94110	2.239000	0.73571	0.524000	0.50904	GAA		0.532	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449		18	15	0	0	0	1	0	18	15				
CELSR2	1952	broad.mit.edu	37	1	109801533	109801533	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:109801533C>T	ENST00000271332.3	+	2	3851	c.3790C>T	c.(3790-3792)Cgg>Tgg	p.R1264W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1264	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGTGCTCTTCCGGCCCATCCA	0.697																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(3790-3792)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2							32.0	30.0	31.0					1																	109801533		2201	4299	6500	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109801533C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.3790C>T	1.37:g.109801533C>T	ENSP00000271332:p.Arg1264Trp						p.R1264W	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	2	3851	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1264			EGF-like 1; calcium-binding.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.3790C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753540	0.49362	.	.	ENSG00000143126	ENST00000271332	T	0.54866	0.55	4.68	2.82	0.32997	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.63943	0.2554	M	0.84511	2.7	0.49687	D	0.999818	D	0.89917	1.0	D	0.70935	0.971	T	0.69569	-0.5110	9	0.72032	D	0.01	.	10.6776	0.45796	0.0:0.8421:0.0:0.1579	.	1264	Q9HCU4	CELR2_HUMAN	W	1264	ENSP00000271332:R1264W	ENSP00000271332:R1264W	R	+	1	2	CELSR2	109603056	1.000000	0.71417	1.000000	0.80357	0.243000	0.25628	2.285000	0.43487	0.709000	0.31976	-0.251000	0.11542	CGG		0.697	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		9	17	0	0	0	1	0	9	17				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			4	27	1	0	1	1	1	4	27				
OR4D2	124538	broad.mit.edu	37	17	56247337	56247337	+	Missense_Mutation	SNP	G	G	T	rs199648721		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:56247337G>T	ENST00000545221.1	+	1	321	c.321G>T	c.(319-321)ttG>ttT	p.L107F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCCACTTTTTGGGAGGTGCCA	0.527																																						ENST00000545221.1																			0				breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						c.(319-321)ttG>ttT		olfactory receptor, family 4, subfamily D, member 2							93.0	86.0	88.0					17																	56247337		2203	4300	6503	SO:0001583	missense	124538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56247337G>T		CCDS32688.1	17q22	2013-09-23			ENSG00000255713	ENSG00000255713		"""GPCR / Class A : Olfactory receptors"""	8294	protein-coding gene	gene with protein product							Standard	NM_001004707		Approved		uc010wnp.2	P58180	OTTHUMG00000178801	ENST00000545221.1:c.321G>T	17.37:g.56247337G>T	ENSP00000441354:p.Leu107Phe						p.L107F	NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN			1	321	+			107					Q6IFN8|Q96R75	Missense_Mutation	SNP	ENST00000545221.1	37	c.321G>T	CCDS32688.1	.	.	.	.	.	.	.	.	.	.	G	0.858	-0.736420	0.03111	.	.	ENSG00000255713	ENST00000545221	T	0.00414	7.52	5.71	-3.82	0.04281	GPCR, rhodopsin-like superfamily (1);	0.155640	0.30043	N	0.010544	T	0.00144	0.0004	N	0.10874	0.06	0.21416	N	0.999694	B	0.20164	0.042	B	0.21151	0.033	T	0.44034	-0.9354	10	0.02654	T	1	-10.4722	10.5348	0.44998	0.0:0.2939:0.1737:0.5325	.	107	P58180	OR4D2_HUMAN	F	107	ENSP00000441354:L107F	ENSP00000441354:L107F	L	+	3	2	OR4D2	53602336	0.000000	0.05858	0.843000	0.33291	0.310000	0.27922	-2.519000	0.00952	-0.381000	0.07882	-0.407000	0.06327	TTG		0.527	OR4D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443366.1			61	15	1	0	5.7761e-15	1	6.14091e-15	61	15				
WDR66	144406	broad.mit.edu	37	12	122361824	122361824	+	Silent	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:122361824G>T	ENST00000288912.4	+	3	1529	c.675G>T	c.(673-675)cgG>cgT	p.R225R	WDR66_ENST00000397454.2_Silent_p.R225R	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	225							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GGATCTCCCGGGAGTCACTGG	0.493																																					Esophageal Squamous(85;849 1794 49757 52143)	ENST00000288912.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(673-675)cgG>cgT		WD repeat domain 66							94.0	90.0	91.0					12																	122361824		1899	4115	6014	SO:0001819	synonymous_variant	144406						calcium ion binding	g.chr12:122361824G>T	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.675G>T	12.37:g.122361824G>T						WDR66_ENST00000397454.2_Silent_p.R225R	p.R225R	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)	3	1529	+	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)		225					C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	ENST00000288912.4	37	c.675G>T	CCDS41853.1																																																																																				0.493	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668		25	52	1	0	1.64293e-13	1	1.71068e-13	25	52				
RERE	473	broad.mit.edu	37	1	8684426	8684426	+	Missense_Mutation	SNP	G	G	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:8684426G>C	ENST00000337907.3	-	4	973	c.339C>G	c.(337-339)atC>atG	p.I113M	RERE_ENST00000400907.2_Missense_Mutation_p.I113M|RERE_ENST00000400908.2_Missense_Mutation_p.I113M	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	113	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TCCGACTCTCGATATACACAC	0.368																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(337-339)atC>atG		arginine-glutamic acid dipeptide (RE) repeats							137.0	128.0	131.0					1																	8684426		2203	4300	6503	SO:0001583	missense	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8684426G>C	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.339C>G	1.37:g.8684426G>C	ENSP00000338629:p.Ile113Met					RERE_ENST00000400907.2_Missense_Mutation_p.I113M|RERE_ENST00000400908.2_Missense_Mutation_p.I113M	p.I113M	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	4	973	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	113			BAH.		O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Missense_Mutation	SNP	ENST00000337907.3	37	c.339C>G	CCDS95.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.78|12.78	2.041027|2.041027	0.35989|0.35989	.|.	.|.	ENSG00000142599|ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908|ENST00000514428	D;D;D|.	0.86097|.	-2.07;-2.07;-2.07|.	5.66|5.66	3.77|3.77	0.43336|0.43336	Bromo adjacent homology (BAH) domain (3);|.	.|.	.|.	.|.	.|.	T|T	0.51007|0.51007	0.1649|0.1649	L|L	0.34521|0.34521	1.04|1.04	0.43183|0.43183	D|D	0.995009|0.995009	D|.	0.76494|.	0.999|.	D|.	0.87578|.	0.998|.	T|T	0.43972|0.43972	-0.9358|-0.9358	9|5	0.72032|.	D|.	0.01|.	-18.7257|-18.7257	9.4371|9.4371	0.38646|0.38646	0.2794:0.0:0.7206:0.0|0.2794:0.0:0.7206:0.0	.|.	113|.	Q9P2R6|.	RERE_HUMAN|.	M|W	113|5	ENSP00000338629:I113M;ENSP00000383699:I113M;ENSP00000383700:I113M|.	ENSP00000338629:I113M|.	I|S	-|-	3|2	3|0	RERE|RERE	8607013|8607013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.839000|0.839000	0.27586|0.27586	1.538000|1.538000	0.49270|0.49270	0.650000|0.650000	0.86243|0.86243	ATC|TCG		0.368	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			17	61	0	0	0	1	0	17	61				
WDR72	256764	broad.mit.edu	37	15	53957934	53957934	+	Silent	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:53957934T>C	ENST00000396328.1	-	14	2036	c.1797A>G	c.(1795-1797)agA>agG	p.R599R	WDR72_ENST00000559418.1_Silent_p.R609R|WDR72_ENST00000557913.1_Silent_p.R596R|WDR72_ENST00000360509.5_Silent_p.R599R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	599										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TAATTCGTGCTCTTTCTCCTG	0.373																																						ENST00000396328.1																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71						c.(1795-1797)agA>agG		WD repeat domain 72							125.0	112.0	116.0					15																	53957934		2194	4293	6487	SO:0001819	synonymous_variant	256764							g.chr15:53957934T>C	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1797A>G	15.37:g.53957934T>C						WDR72_ENST00000557913.1_Silent_p.R596R|WDR72_ENST00000360509.5_Silent_p.R599R|WDR72_ENST00000559418.1_Silent_p.R609R	p.R599R	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	14	2036	-			599					Q7Z3I3|Q8N8X2	Silent	SNP	ENST00000396328.1	37	c.1797A>G	CCDS10151.1																																																																																				0.373	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		23	8	0	0	0	1	0	23	8				
ARHGAP36	158763	broad.mit.edu	37	X	130220396	130220396	+	Missense_Mutation	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chrX:130220396A>T	ENST00000276211.5	+	10	1720	c.1375A>T	c.(1375-1377)Atc>Ttc	p.I459F	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I447F|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I323F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	459					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTTGAGGAAGATCCAGTGAGT	0.473																																						ENST00000276211.5																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						c.(1375-1377)Atc>Ttc		Rho GTPase activating protein 36							88.0	86.0	87.0					X																	130220396		2203	4300	6503	SO:0001583	missense	158763				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chrX:130220396A>T		CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1375A>T	X.37:g.130220396A>T	ENSP00000276211:p.Ile459Phe					ARHGAP36_ENST00000370922.1_Missense_Mutation_p.I447F|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.I323F	p.I459F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN			10	1720	+			459					B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	ENST00000276211.5	37	c.1375A>T	CCDS14628.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.088453	0.36855	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.11063	2.81;2.82;2.83;2.82	4.13	4.13	0.48395	.	0.000000	0.45867	D	0.000327	T	0.05640	0.0148	N	0.08118	0	0.40841	D	0.983671	P;P;B	0.36535	0.557;0.557;0.421	B;B;B	0.39419	0.299;0.299;0.157	T	0.48603	-0.9021	10	0.16420	T	0.52	.	8.5323	0.33342	1.0:0.0:0.0:0.0	.	428;447;459	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	F	459;447;428;323	ENSP00000276211:I459F;ENSP00000359960:I447F;ENSP00000408515:I428F;ENSP00000359959:I323F	ENSP00000276211:I459F	I	+	1	0	ARHGAP36	130048077	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	3.033000	0.49743	1.833000	0.53350	0.486000	0.48141	ATC		0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355073.1	NM_144967		11	31	0	0	0	1	0	11	31				
KCNK9	51305	broad.mit.edu	37	8	140630989	140630989	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:140630989C>T	ENST00000520439.1	-	2	700	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.A213T	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	213					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	TTCTGCAGGGCACCCTTGGTC	0.567																																						ENST00000520439.1																			0				NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43						c.(637-639)Gcc>Acc		potassium channel, subfamily K, member 9							61.0	65.0	64.0					8																	140630989		2203	4300	6503	SO:0001583	missense	51305					integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity	g.chr8:140630989C>T	AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.637G>A	8.37:g.140630989C>T	ENSP00000430676:p.Ala213Thr					KCNK9_ENST00000303015.1_Missense_Mutation_p.A213T	p.A213T			Q9NPC2	KCNK9_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0855)		2	700	-	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	213					Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	c.637G>A	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534724	0.64972	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.17054	2.3;2.3;2.3	5.85	5.85	0.93711	Ion transport 2 (1);	0.246767	0.36101	N	0.002790	T	0.23094	0.0558	L	0.28192	0.835	0.80722	D	1	P	0.45634	0.863	P	0.50049	0.629	T	0.00341	-1.1804	10	0.46703	T	0.11	.	19.1531	0.93496	0.0:1.0:0.0:0.0	.	213	Q9NPC2	KCNK9_HUMAN	T	213	ENSP00000429847:A213T;ENSP00000302166:A213T;ENSP00000430676:A213T	ENSP00000302166:A213T	A	-	1	0	KCNK9	140700171	1.000000	0.71417	0.754000	0.31244	0.110000	0.19582	7.635000	0.83286	2.753000	0.94483	0.655000	0.94253	GCC		0.567	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601		26	159	0	0	0	1	0	26	159				
LAMA5	3911	broad.mit.edu	37	20	60927360	60927360	+	Missense_Mutation	SNP	G	G	C	rs375094493		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:60927360G>C	ENST00000252999.3	-	4	691	c.625C>G	c.(625-627)Cgg>Ggg	p.R209G	RP11-157P1.5_ENST00000487421.1_RNA|LAMA5_ENST00000370692.3_Missense_Mutation_p.R209G|RP11-157P1.5_ENST00000477848.1_RNA|RP11-157P1.5_ENST00000456721.2_RNA|RP11-157P1.5_ENST00000478167.1_RNA|LAMA5_ENST00000370677.3_Missense_Mutation_p.R209G	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	209	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCGTCGTCCCGTGTGATGCGC	0.687																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(625-627)Cgg>Ggg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						70.0	62.0	64.0					20																	60927360		2201	4294	6495	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60927360G>C	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.625C>G	20.37:g.60927360G>C	ENSP00000252999:p.Arg209Gly					LAMA5_ENST00000370677.3_Missense_Mutation_p.R209G|LAMA5_ENST00000370692.3_Missense_Mutation_p.R209G	p.R209G	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		4	691	-	Breast(26;1.57e-08)		209			Laminin N-terminal.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.625C>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	4.542	0.100662	0.08731	.	.	ENSG00000130702	ENST00000252999;ENST00000370692;ENST00000370677	T;T;T	0.76186	-1.0;-1.0;-1.0	4.04	0.41	0.16387	Laminin, N-terminal (3);	0.816174	0.10984	U	0.612391	T	0.65943	0.2740	L	0.50847	1.595	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.58679	-0.7594	10	0.72032	D	0.01	.	7.2987	0.26408	0.0:0.1142:0.2716:0.6142	.	209	O15230	LAMA5_HUMAN	G	209	ENSP00000252999:R209G;ENSP00000359726:R209G;ENSP00000359711:R209G	ENSP00000252999:R209G	R	-	1	2	LAMA5	60360755	0.000000	0.05858	0.023000	0.16930	0.002000	0.02628	-0.106000	0.10890	0.201000	0.20466	-0.463000	0.05309	CGG		0.687	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		6	17	0	0	0	1	0	6	17				
PDZD7	79955	broad.mit.edu	37	10	102783751	102783751	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:102783751C>T	ENST00000370215.3	-	3	526	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PDZD7_ENST00000470414.1_Missense_Mutation_p.V101M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	101	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.					cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CCCCCGCGCACGCTGAAGCCC	0.582																																						ENST00000370215.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(301-303)Gtg>Atg		PDZ domain containing 7							98.0	89.0	92.0					10																	102783751		2203	4300	6503	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102783751C>T	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.301G>A	10.37:g.102783751C>T	ENSP00000359234:p.Val101Met					PDZD7_ENST00000470414.1_Missense_Mutation_p.V101M	p.V101M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	3	526	-			101			PDZ 1.		D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.301G>A	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435121	0.83885	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.20881	2.04	5.07	5.07	0.68467	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.47563	0.1452	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.37056	-0.9722	10	0.40728	T	0.16	.	18.8027	0.92025	0.0:1.0:0.0:0.0	.	101;101	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	M	101	ENSP00000359234:V101M	ENSP00000359234:V101M	V	-	1	0	PDZD7	102773741	1.000000	0.71417	0.993000	0.49108	0.741000	0.42261	7.675000	0.84002	2.498000	0.84270	0.491000	0.48974	GTG		0.582	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		6	92	0	0	0	1	0	6	92				
LAMA5	3911	broad.mit.edu	37	20	60901785	60901785	+	Missense_Mutation	SNP	G	G	A	rs149220558		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:60901785G>A	ENST00000252999.3	-	40	5312	c.5246C>T	c.(5245-5247)cCg>cTg	p.P1749L		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1749	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGGTATGCCGGCTCCAGGAA	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		17574	0.0		0.001	False		,,,				2504	0.0					ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(5245-5247)cCg>cTg		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	G	LEU/PRO	0,4406		0,0,2203	109.0	74.0	86.0		5246	3.1	0.7	20	dbSNP_134	86	10,8590	7.7+/-29.5	0,10,4290	yes	missense	LAMA5	NM_005560.3	98	0,10,6493	AA,AG,GG		0.1163,0.0,0.0769	benign	1749/3696	60901785	10,12996	2203	4300	6503	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60901785G>A	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5246C>T	20.37:g.60901785G>A	ENSP00000252999:p.Pro1749Leu						p.P1749L	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		40	5312	-	Breast(26;1.57e-08)		1749			Laminin IV type A.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.5246C>T	CCDS33502.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.939	0.542984	0.13250	0.0	0.001163	ENSG00000130702	ENST00000252999	T	0.38240	1.15	5.12	3.08	0.35506	Laminin B type IV (2);Laminin B, subgroup (1);	0.335009	0.33980	N	0.004369	T	0.20618	0.0496	N	0.19112	0.55	0.09310	N	0.999999	B	0.18863	0.031	B	0.10450	0.005	T	0.14671	-1.0464	10	0.24483	T	0.36	.	8.7757	0.34760	0.1044:0.2569:0.6387:0.0	.	1749	O15230	LAMA5_HUMAN	L	1749	ENSP00000252999:P1749L	ENSP00000252999:P1749L	P	-	2	0	LAMA5	60335180	0.737000	0.28175	0.719000	0.30619	0.206000	0.24218	1.567000	0.36407	1.132000	0.42129	0.555000	0.69702	CCG		0.672	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		26	48	0	0	0	1	0	26	48				
ARL15	54622	broad.mit.edu	37	5	53467719	53467719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:53467719G>A	ENST00000504924.1	-	2	181	c.88C>T	c.(88-90)Cga>Tga	p.R30*	ARL15_ENST00000502271.1_Intron|ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000507646.2_Nonsense_Mutation_p.R30*	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	30					small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TATTCTGGTCGTGCAGGTGGT	0.463																																						ENST00000504924.1																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(88-90)Cga>Tga		ADP-ribosylation factor-like 15							84.0	82.0	83.0					5																	53467719		1938	4134	6072	SO:0001587	stop_gained	54622						GTP binding	g.chr5:53467719G>A	BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.88C>T	5.37:g.53467719G>A	ENSP00000433427:p.Arg30*					ARL15_ENST00000507646.2_Nonsense_Mutation_p.R30*|ARL15_ENST00000502271.1_Intron|ARL15_ENST00000510591.2_5'UTR	p.R30*	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN			2	181	-		Lung NSC(810;0.000779)	30					Q6IAD0	Nonsense_Mutation	SNP	ENST00000504924.1	37	c.88C>T	CCDS54850.1	.	.	.	.	.	.	.	.	.	.	G	35	5.453444	0.96223	.	.	ENSG00000185305	ENST00000504924;ENST00000507646	.	.	.	5.93	4.08	0.47627	.	0.050874	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-10.3262	15.4986	0.75677	0.0:0.0:0.7482:0.2518	.	.	.	.	X	30	.	ENSP00000433427:R30X	R	-	1	2	ARL15	53503476	0.998000	0.40836	0.846000	0.33378	0.995000	0.86356	2.696000	0.47052	1.502000	0.48669	0.561000	0.74099	CGA		0.463	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368432.2	NM_019087		25	14	0	0	0	1	0	25	14				
GOLGA6L2	283685	broad.mit.edu	37	15	23690478	23690478	+	Missense_Mutation	SNP	C	C	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:23690478C>A	ENST00000567107.1	-	2	244	c.192G>T	c.(190-192)gaG>gaT	p.E64D	GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.E64D|GOLGA6L2_ENST00000345070.5_De_novo_Start_InFrame			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	64			E -> G (in dbSNP:rs2344899). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							breast(1)|endometrium(7)	8						AATGGCAACCCTCCGAAGTGG	0.502																																						ENST00000567107.1																			0				breast(1)|endometrium(7)	8						c.(190-192)gaG>gaT		golgin A6 family-like 2																																				SO:0001583	missense	283685							g.chr15:23690478C>A	AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.192G>T	15.37:g.23690478C>A	ENSP00000454407:p.Glu64Asp					GOLGA6L2_ENST00000312015.5_Missense_Mutation_p.E64D|GOLGA6L2_ENST00000345070.5_De_novo_Start_InFrame	p.E64D							2	244	-								A1L301	Missense_Mutation	SNP	ENST00000567107.1	37	c.192G>T		.	.	.	.	.	.	.	.	.	.	a	6.755	0.508179	0.12883	.	.	ENSG00000174450	ENST00000312015	T	0.09445	2.98	.	.	.	.	.	.	.	.	T	0.04861	0.0131	.	.	.	0.09310	N	0.999998	B	0.17038	0.02	B	0.06405	0.002	T	0.36866	-0.9730	6	0.33940	T	0.23	.	.	.	.	.	64	Q8N9W4	GG6L2_HUMAN	D	64	ENSP00000307928:E64D	ENSP00000307928:E64D	E	-	3	2	GOLGA6L2	21241571	0.047000	0.20315	0.015000	0.15790	0.015000	0.08874	-0.070000	0.11523	-2.162000	0.00784	-2.214000	0.00298	GAG		0.502	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000431937.1	NM_182561		45	3	1	0	1.08114e-33	1	1.1869e-33	45	3				
NF1	4763	broad.mit.edu	37	17	29528441	29528441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:29528441C>T	ENST00000358273.4	+	11	1581	c.1198C>T	c.(1198-1200)Cag>Tag	p.Q400*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	400					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(6)|p.Q400*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCCTGGCTCAGAATTCACC	0.308			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	16	Whole gene deletion(8)|Unknown(6)|Substitution - Nonsense(2)	p.0?(8)|p.?(6)|p.Q400*(2)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(3)|cervix(2)|lung(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(1198-1200)Cag>Tag		neurofibromin 1							78.0	86.0	83.0					17																	29528441		2203	4295	6498	SO:0001587	stop_gained	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29528441C>T		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.1198C>T	17.37:g.29528441C>T	ENSP00000351015:p.Gln400*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Nonsense_Mutation_p.Q400*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q400*	p.Q400*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	11	1581	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	400					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.1198C>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647345	0.87958	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.17	5.17	0.71159	.	0.119548	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	18.6538	0.91441	0.0:1.0:0.0:0.0	.	.	.	.	X	400;400;400;66	.	ENSP00000348498:Q400X	Q	+	1	0	NF1	26552567	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.284000	0.58983	2.412000	0.81896	0.491000	0.48974	CAG		0.308	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		43	13	0	0	0	1	0	43	13				
SLC45A2	51151	broad.mit.edu	37	5	33947401	33947401	+	Missense_Mutation	SNP	G	G	A	rs149980670		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:33947401G>A	ENST00000296589.4	-	6	1381	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000382102.3_Missense_Mutation_p.T412M	NM_016180.3	NP_057264	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	412					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)		p.T412M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						AATAAATCCCGTCCCCAGGCC	0.488																																					Ovarian(31;380 859 8490 22203 49048)	ENST00000382102.3																			1	Substitution - Missense(1)	p.T412M(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1234-1236)aCg>aTg		solute carrier family 45, member 2		G	MET/THR,MET/THR	0,4406		0,0,2203	146.0	147.0	147.0		1235,1235	5.6	1.0	5	dbSNP_134	147	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SLC45A2	NM_001012509.2,NM_016180.3	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	412/461,412/531	33947401	1,13005	2203	4300	6503	SO:0001583	missense	51151				melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane		g.chr5:33947401G>A	AF172849	CCDS3901.1, CCDS43308.1, CCDS75232.1	5p13.3	2013-08-06	2005-10-06	2005-10-06	ENSG00000164175	ENSG00000164175		"""Solute carriers"""	16472	protein-coding gene	gene with protein product		606202	"""membrane associated transporter"""	MATP		11916009, 11574907	Standard	NM_001012509		Approved	AIM-1, OCA4	uc003jid.3	Q9UMX9	OTTHUMG00000090719	ENST00000296589.4:c.1235C>T	5.37:g.33947401G>A	ENSP00000296589:p.Thr412Met					SLC45A2_ENST00000342059.3_Missense_Mutation_p.T353M|SLC45A2_ENST00000296589.4_Missense_Mutation_p.T412M	p.T412M	NM_001012509.2	NP_001012527.1	Q9UMX9	S45A2_HUMAN			6	1292	-			412					Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000296589.4	37	c.1235C>T	CCDS3901.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988904	0.93106	0.0	1.16E-4	ENSG00000164175	ENST00000296589;ENST00000342059;ENST00000382102;ENST00000510600	D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.91872	0.7427	L	0.39020	1.185	0.80722	D	1	D;P	0.89917	1.0;0.622	D;P	0.85130	0.997;0.466	D	0.86327	0.1696	10	0.02654	T	1	-12.7534	19.6445	0.95771	0.0:0.0:1.0:0.0	.	412;412	Q9UMX9-4;Q9UMX9	.;S45A2_HUMAN	M	412;353;412;237	ENSP00000296589:T412M;ENSP00000341014:T353M;ENSP00000371534:T412M;ENSP00000424010:T237M	ENSP00000296589:T412M	T	-	2	0	SLC45A2	33983158	1.000000	0.71417	0.958000	0.39756	0.964000	0.63967	9.519000	0.98025	2.646000	0.89796	0.655000	0.94253	ACG		0.488	SLC45A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207443.2	NM_016180		8	182	0	0	0	1	0	8	182				
LARP4	113251	broad.mit.edu	37	12	50834308	50834308	+	Missense_Mutation	SNP	C	C	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:50834308C>G	ENST00000398473.2	+	7	838	c.726C>G	c.(724-726)ttC>ttG	p.F242L	LARP4_ENST00000293618.8_Missense_Mutation_p.F242L|LARP4_ENST00000518561.1_Missense_Mutation_p.F172L|LARP4_ENST00000429001.3_Missense_Mutation_p.F248L|LARP4_ENST00000347328.5_Missense_Mutation_p.F242L|LARP4_ENST00000518444.1_Missense_Mutation_p.F241L|LARP4_ENST00000522085.1_Missense_Mutation_p.F242L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	242	RRM.				cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATATCACTTTCCAGTCAGACA	0.353																																						ENST00000398473.2																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						c.(724-726)ttC>ttG		La ribonucleoprotein domain family, member 4							96.0	84.0	87.0					12																	50834308		1854	4114	5968	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50834308C>G	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.726C>G	12.37:g.50834308C>G	ENSP00000381490:p.Phe242Leu					LARP4_ENST00000522085.1_Missense_Mutation_p.F242L|LARP4_ENST00000518444.1_Missense_Mutation_p.F241L|LARP4_ENST00000429001.3_Missense_Mutation_p.F248L|LARP4_ENST00000347328.5_Missense_Mutation_p.F242L|LARP4_ENST00000293618.8_Missense_Mutation_p.F242L|LARP4_ENST00000518561.1_Missense_Mutation_p.F172L	p.F242L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN			7	838	+			242			RRM.		A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.726C>G	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.348800	0.82132	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000441650;ENST00000522085;ENST00000398464;ENST00000518444;ENST00000518561;ENST00000520064;ENST00000347328	T;T;T;T;T;T;T	0.61392	0.11;0.11;0.11;0.11;0.11;0.11;0.11	4.97	4.08	0.47627	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.77384	0.4122	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.998;0.996;0.999;0.998	D;D;D;D;D;D	0.97110	0.999;1.0;0.987;0.976;0.998;0.993	T	0.81339	-0.0977	10	0.72032	D	0.01	.	13.5791	0.61891	0.0:0.9236:0.0:0.0764	.	143;241;242;242;242;248	Q71RC2-2;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;LARP4_HUMAN;.	L	242;248;242;172;242;242;241;172;143;242	ENSP00000293618:F242L;ENSP00000415464:F248L;ENSP00000381490:F242L;ENSP00000429781:F242L;ENSP00000429077:F241L;ENSP00000430851:F172L;ENSP00000340901:F242L	ENSP00000293618:F242L	F	+	3	2	LARP4	49120575	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.950000	0.56676	1.219000	0.43474	0.484000	0.47621	TTC		0.353	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		12	14	0	0	0	1	0	12	14				
PRKCG	5582	broad.mit.edu	37	19	54410111	54410111	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:54410111C>T	ENST00000263431.3	+	18	2338	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	PRKCG_ENST00000542049.1_Missense_Mutation_p.R537C|PRKCG_ENST00000540413.1_Missense_Mutation_p.R686C|CACNG7_ENST00000391767.1_5'Flank	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	686					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCCGGATGCCCGCAGCCCCAC	0.682											OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000263431.3																			0				large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10						c.(2056-2058)Cgc>Tgc		protein kinase C, gamma							39.0	50.0	46.0					19																	54410111		2203	4299	6502	SO:0001583	missense	5582				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	g.chr19:54410111C>T	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.2056C>T	19.37:g.54410111C>T	ENSP00000263431:p.Arg686Cys		OREG0025667	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1000	PRKCG_ENST00000540413.1_Missense_Mutation_p.R686C|PRKCG_ENST00000542049.1_Missense_Mutation_p.R537C	p.R686C	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN		GBM - Glioblastoma multiforme(134;0.0521)	18	2338	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		686					B7Z8Q0	Missense_Mutation	SNP	ENST00000263431.3	37	c.2056C>T	CCDS12867.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.348067	0.61183	.	.	ENSG00000126583	ENST00000540413;ENST00000263431;ENST00000542049	T;T;T	0.71341	-0.54;-0.56;-0.55	4.75	3.69	0.42338	.	.	.	.	.	T	0.60051	0.2239	N	0.08118	0	0.38733	D	0.953716	P;D;D	0.76494	0.93;0.999;0.99	B;P;P	0.56700	0.348;0.804;0.608	T	0.65249	-0.6214	9	0.87932	D	0	.	6.6439	0.22925	0.1807:0.7214:0.0:0.0979	.	537;686;686	B7Z8Q0;F5H5C4;P05129	.;.;KPCG_HUMAN	C	686;686;537	ENSP00000443493:R686C;ENSP00000263431:R686C;ENSP00000438090:R537C	ENSP00000263431:R686C	R	+	1	0	PRKCG	59101923	0.500000	0.26091	0.998000	0.56505	0.984000	0.73092	1.005000	0.29834	2.355000	0.79922	0.561000	0.74099	CGC		0.682	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139233.3	NM_002739		28	82	0	0	0	1	0	28	82				
LRRCC1	85444	broad.mit.edu	37	8	86025226	86025226	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:86025226C>T	ENST00000360375.3	+	4	585	c.436C>T	c.(436-438)Cgt>Tgt	p.R146C	LRRCC1_ENST00000414626.2_Missense_Mutation_p.R126C	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	146					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ACATAGTAATCGTATAGATAG	0.358																																						ENST00000414626.2																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(376-378)Cgt>Tgt		leucine rich repeat and coiled-coil centrosomal protein 1							122.0	116.0	118.0					8																	86025226		1867	4096	5963	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86025226C>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.436C>T	8.37:g.86025226C>T	ENSP00000353538:p.Arg146Cys					LRRCC1_ENST00000360375.3_Missense_Mutation_p.R146C	p.R126C			Q9C099	LRCC1_HUMAN			3	1265	+			146					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.376C>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	12.67	2.008315	0.35415	.	.	ENSG00000133739	ENST00000426019;ENST00000360375;ENST00000414626	T;T	0.25085	1.82;1.82	5.81	4.66	0.58398	.	0.530965	0.16055	N	0.231793	T	0.09069	0.0224	N	0.00661	-1.28	0.35905	D	0.830678	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.12863	-1.0531	10	0.37606	T	0.19	-0.0247	12.0476	0.53489	0.0:0.0677:0.0:0.9323	.	126;53;146	Q9C099-2;E9PE41;Q9C099	.;.;LRCC1_HUMAN	C	53;146;126	ENSP00000353538:R146C;ENSP00000394695:R126C	ENSP00000353538:R146C	R	+	1	0	LRRCC1	86212478	0.997000	0.39634	0.995000	0.50966	0.967000	0.64934	2.172000	0.42463	1.021000	0.39600	-0.383000	0.06682	CGT		0.358	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402		33	25	0	0	0	1	0	33	25				
DAK	26007	broad.mit.edu	37	11	61105561	61105561	+	Missense_Mutation	SNP	T	T	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:61105561T>G	ENST00000394900.3	+	3	381	c.152T>G	c.(151-153)cTg>cGg	p.L51R	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	51	DhaK. {ECO:0000255|PROSITE- ProRule:PRU00814}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CGGGTGGCACTGCTGTCGGGT	0.687																																						ENST00000394900.3																			0				NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(151-153)cTg>cGg		dihydroxyacetone kinase 2 homolog (S. cerevisiae)							31.0	36.0	34.0					11																	61105561		2203	4298	6501	SO:0001583	missense	26007				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding	g.chr11:61105561T>G		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.152T>G	11.37:g.61105561T>G	ENSP00000378360:p.Leu51Arg					DAK_ENST00000530057.1_3'UTR	p.L51R	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN			3	381	+			51			DhaK.		Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	37	c.152T>G	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498296	0.85069	.	.	ENSG00000149476	ENST00000394900;ENST00000532173;ENST00000524968;ENST00000529479	T;T;T	0.40225	1.04;1.06;1.04	5.9	5.9	0.94986	Dak kinase (2);	0.069717	0.64402	D	0.000016	T	0.73869	0.3642	M	0.93283	3.4	0.54753	D	0.999986	D	0.89917	1.0	D	0.83275	0.996	T	0.81468	-0.0919	10	0.87932	D	0	-4.9917	16.055	0.80794	0.0:0.0:0.0:1.0	.	51	Q3LXA3	DHAK_HUMAN	R	51;51;51;50	ENSP00000378360:L51R;ENSP00000431844:L51R;ENSP00000432539:L50R	ENSP00000378360:L51R	L	+	2	0	DAK	60862137	1.000000	0.71417	0.970000	0.41538	0.852000	0.48524	7.587000	0.82613	2.276000	0.75962	0.454000	0.30748	CTG		0.687	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533		42	32	0	0	0	1	0	42	32				
IMPG1	3617	broad.mit.edu	37	6	76712656	76712656	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:76712656C>T	ENST00000369950.3	-	12	1459	c.1270G>A	c.(1270-1272)Gga>Aga	p.G424R	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGCTCTGCTCCGTCCACTGTC	0.438																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1270-1272)Gga>Aga		interphotoreceptor matrix proteoglycan 1							128.0	110.0	116.0					6																	76712656		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76712656C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1270G>A	6.37:g.76712656C>T	ENSP00000358966:p.Gly424Arg					IMPG1_ENST00000369963.3_3'UTR	p.G424R	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			12	1459	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	424						Missense_Mutation	SNP	ENST00000369950.3	37	c.1270G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	1.387	-0.581810	0.03854	.	.	ENSG00000112706	ENST00000369950	T	0.18338	2.22	5.14	-0.29	0.12847	.	0.866775	0.10359	N	0.684229	T	0.01061	0.0035	N	0.00483	-1.445	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.48536	-0.9027	10	0.13853	T	0.58	.	8.0882	0.30784	0.0:0.3226:0.0:0.6774	.	424	Q17R60	IMPG1_HUMAN	R	424	ENSP00000358966:G424R	ENSP00000358966:G424R	G	-	1	0	IMPG1	76769376	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.359000	0.20233	-0.003000	0.14444	-1.010000	0.02471	GGA		0.438	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		9	8	0	0	0	1	0	9	8				
DLGAP2	9228	broad.mit.edu	37	8	1616711	1616711	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:1616711C>T	ENST00000421627.2	+	6	1921	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	675					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		ATGAACCTCGCGCTGGAAACG	0.672																																						ENST00000421627.2																			0				breast(1)|endometrium(6)|lung(31)|prostate(3)	41						c.(1786-1788)gCg>gTg		discs, large (Drosophila) homolog-associated protein 2							15.0	20.0	19.0					8																	1616711		2099	4194	6293	SO:0001583	missense	9228				neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	g.chr8:1616711C>T	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1787C>T	8.37:g.1616711C>T	ENSP00000400258:p.Ala596Val						p.A596V	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)	6	1921	+		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)	675					A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	37	c.1787C>T	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.012908|4.012908	0.75161|0.75161	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.15952|.	2.38|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75295|0.75295	0.3830|0.3830	M|M	0.68317|0.68317	2.08|2.08	0.53688|0.53688	D|D	0.999979|0.999979	D;D|.	0.89917|.	0.994;1.0|.	P;D|.	0.85130|.	0.8;0.997|.	T|T	0.73379|0.73379	-0.4001|-0.4001	10|5	0.54805|.	T|.	0.06|.	-10.2023|-10.2023	19.4384|19.4384	0.94807|0.94807	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	675;675|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	V|C	641;596|613	ENSP00000400258:A596V|.	ENSP00000348366:A641V|.	A|R	+|+	2|1	0|0	DLGAP2|DLGAP2	1604118|1604118	1.000000|1.000000	0.71417|0.71417	0.460000|0.460000	0.27093|0.27093	0.203000|0.203000	0.24098|0.24098	7.404000|7.404000	0.79996|0.79996	2.589000|2.589000	0.87451|0.87451	0.650000|0.650000	0.86243|0.86243	GCG|CGC		0.672	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745		11	10	0	0	0	1	0	11	10				
PCDHGA2	56113	broad.mit.edu	37	5	140718978	140718978	+	Missense_Mutation	SNP	C	C	T	rs199543217		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:140718978C>T	ENST00000394576.2	+	1	440	c.440C>T	c.(439-441)aCg>aTg	p.T147M	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	147	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACCACTACGCCAGGATTC	0.453																																						ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(439-441)aCg>aTg									70.0	71.0	71.0					5																	140718978		2203	4300	6503	SO:0001583	missense	0							g.chr5:140718978C>T	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.440C>T	5.37:g.140718978C>T	ENSP00000378077:p.Thr147Met					PCDHGA1_ENST00000517417.1_Intron	p.T147M	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	440	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.440C>T	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	8.469	0.857177	0.17106	.	.	ENSG00000081853	ENST00000394576	T	0.52983	0.64	5.15	2.42	0.29668	Cadherin (3);Cadherin-like (1);	0.167338	0.28130	U	0.016490	T	0.31327	0.0793	L	0.33137	0.985	0.09310	N	1	B;P	0.39060	0.023;0.657	B;B	0.32583	0.064;0.148	T	0.12477	-1.0546	10	0.56958	D	0.05	.	9.1289	0.36833	0.0:0.699:0.0:0.301	.	147;147	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	M	147	ENSP00000378077:T147M	ENSP00000378077:T147M	T	+	2	0	PCDHGA2	140699162	0.000000	0.05858	0.199000	0.23439	0.734000	0.41952	-1.575000	0.02131	0.297000	0.22615	-0.140000	0.14226	ACG		0.453	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		72	57	0	0	0	1	0	72	57				
ZNF862	643641	broad.mit.edu	37	7	149557897	149557897	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr7:149557897G>A	ENST00000223210.4	+	7	1893	c.1648G>A	c.(1648-1650)Gac>Aac	p.D550N	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						GATCTCCAGCGACCTCATGGC	0.512																																						ENST00000223210.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(1648-1650)Gac>Aac		zinc finger protein 862							66.0	69.0	68.0					7																	149557897		2085	4216	6301	SO:0001583	missense	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149557897G>A	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1648G>A	7.37:g.149557897G>A	ENSP00000223210:p.Asp550Asn						p.D550N	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN			7	1893	+			550					A0AUL8	Missense_Mutation	SNP	ENST00000223210.4	37	c.1648G>A	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.667248	0.67814	.	.	ENSG00000106479	ENST00000223210	T	0.01076	5.37	4.98	4.98	0.66077	.	0.217321	0.32147	N	0.006519	T	0.02533	0.0077	M	0.76328	2.33	0.29412	N	0.861153	D	0.52996	0.957	B	0.43155	0.41	T	0.28933	-1.0028	10	0.42905	T	0.14	-31.0478	13.7753	0.63050	0.0:0.0:1.0:0.0	.	550	O60290	ZN862_HUMAN	N	550	ENSP00000223210:D550N	ENSP00000223210:D550N	D	+	1	0	ZNF862	149188830	1.000000	0.71417	0.981000	0.43875	0.973000	0.67179	3.908000	0.56355	2.320000	0.78422	0.655000	0.94253	GAC		0.512	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220		34	43	0	0	0	1	0	34	43				
RNF121	55298	broad.mit.edu	37	11	71693851	71693851	+	Silent	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:71693851A>C	ENST00000361756.3	+	4	649	c.288A>C	c.(286-288)acA>acC	p.T96T	RNF121_ENST00000533380.1_Intron|RNF121_ENST00000393713.3_Silent_p.T64T|RNF121_ENST00000530137.1_Silent_p.T64T|RNF121_ENST00000545854.1_Silent_p.T15T|RNF121_ENST00000490867.1_3'UTR	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	96						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCTATTTCACAGTGAAGCTGC	0.512																																						ENST00000361756.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						c.(286-288)acA>acC		ring finger protein 121							273.0	232.0	246.0					11																	71693851		2200	4293	6493	SO:0001819	synonymous_variant	55298					integral to membrane	zinc ion binding	g.chr11:71693851A>C	AK001961	CCDS8203.1, CCDS73343.1	11q13.3	2008-02-05			ENSG00000137522	ENSG00000137522		"""RING-type (C3HC4) zinc fingers"""	21070	protein-coding gene	gene with protein product							Standard	NM_018320		Approved	FLJ11099	uc001ora.3	Q9H920	OTTHUMG00000157023	ENST00000361756.3:c.288A>C	11.37:g.71693851A>C						RNF121_ENST00000545854.1_Silent_p.T15T|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000530137.1_Silent_p.T64T|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Silent_p.T64T	p.T96T	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN			4	649	+			96					B3KSW8|Q6IA57|Q6P449|Q96DB4	Silent	SNP	ENST00000361756.3	37	c.288A>C	CCDS8203.1																																																																																				0.512	RNF121-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347132.1	NM_018320		25	78	0	0	0	1	0	25	78				
MTBP	27085	broad.mit.edu	37	8	121535576	121535576	+	Nonstop_Mutation	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr8:121535576A>G	ENST00000305949.1	+	22	2760	c.2715A>G	c.(2713-2715)tgA>tgG	p.*905W		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	0					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			GCAAGAAATGATACATAATCA	0.269																																						ENST00000305949.1																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(2713-2715)tgA>tgG		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa							87.0	93.0	91.0					8																	121535576		2190	4251	6441	SO:0001578	stop_lost	27085				cell cycle arrest			g.chr8:121535576A>G		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	ENST00000305949.1:c.2715A>G	8.37:g.121535576A>G	ENSP00000303398:p.*905Trpext*31						p.*905W	NM_022045.3	NP_071328.2	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		22	2760	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		0					B4DUR5|Q9HA89	Nonstop_Mutation	SNP	ENST00000305949.1	37	c.2715A>G	CCDS6333.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064482	0.36470	.	.	ENSG00000172167	ENST00000305949	.	.	.	5.55	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.7435	0.46166	0.9237:0.0:0.0763:0.0	.	.	.	.	W	905	.	.	X	+	3	0	MTBP	121604757	0.323000	0.24643	0.425000	0.26659	0.559000	0.35586	3.304000	0.51866	0.918000	0.36919	0.533000	0.62120	TGA		0.269	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	NM_022045		21	110	0	0	0	1	0	21	110				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	27	0	0	0	1	0	3	27				
MAP3K19	80122	broad.mit.edu	37	2	135745372	135745372	+	Missense_Mutation	SNP	C	C	T	rs199756836		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:135745372C>T	ENST00000375845.3	-	7	1100	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.R374Q|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R244Q|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	357							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTCAGGTTTTCGCGTTTTACT	0.373													C|||	1	0.000199681	0.0	0.0	5008	,	,		19845	0.001		0.0	False		,,,				2504	0.0					ENST00000375845.3																			0											c.(1069-1071)cGa>cAa		mitogen-activated protein kinase kinase kinase 19							59.0	56.0	57.0					2																	135745372		2203	4300	6503	SO:0001583	missense	80122							g.chr2:135745372C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1070G>A	2.37:g.135745372C>T	ENSP00000365005:p.Arg357Gln					MAP3K19_ENST00000392915.1_Missense_Mutation_p.R374Q|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.R244Q|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000315513.3_5'UTR	p.R357Q	NM_025052.3	NP_079328.3					7	1100	-								B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.1070G>A	CCDS2176.2	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	5.569	0.289899	0.10567	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	T;T;T	0.72725	-0.68;-0.67;1.67	4.58	-2.79	0.05841	.	0.526148	0.15899	N	0.239179	T	0.48750	0.1517	L	0.31926	0.97	0.09310	N	0.999998	B;B;B	0.32893	0.389;0.389;0.27	B;B;B	0.21546	0.035;0.035;0.015	T	0.23297	-1.0192	10	0.42905	T	0.14	.	6.6913	0.23174	0.0:0.2181:0.4093:0.3726	.	244;374;357	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	Q	357;244;374	ENSP00000365005:R357Q;ENSP00000351140:R244Q;ENSP00000376647:R374Q	ENSP00000351140:R244Q	R	-	2	0	YSK4	135461842	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.267000	0.08619	-0.944000	0.03686	-0.196000	0.12772	CGA		0.373	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		18	11	0	0	0	1	0	18	11				
DCHS1	8642	broad.mit.edu	37	11	6643541	6643541	+	Silent	SNP	G	G	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:6643541G>T	ENST00000299441.3	-	21	9777	c.9366C>A	c.(9364-9366)ggC>ggA	p.G3122G	TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000299427.6_5'Flank|TPP1_ENST00000528657.1_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000534644.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3122					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAGGCCACAGCCCCCCAGGA	0.662																																						ENST00000299441.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(9364-9366)ggC>ggA		dachsous cadherin-related 1							10.0	12.0	11.0					11																	6643541		2198	4286	6484	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6643541G>T	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9366C>A	11.37:g.6643541G>T						RP11-732A19.5_ENST00000526456.1_RNA	p.G3122G	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	21	9777	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	3122					O15098	Silent	SNP	ENST00000299441.3	37	c.9366C>A	CCDS7771.1																																																																																				0.662	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		6	5	1	0	2.0095e-06	1	2.02959e-06	6	5				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	42	0	0	0	1	0	5	42				
VPS16	64601	broad.mit.edu	37	20	2842328	2842328	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr20:2842328G>A	ENST00000380445.3	+	9	949	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	VPS16_ENST00000380443.3_5'Flank|PTPRA_ENST00000380393.3_5'Flank|VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.G293S	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	293					intracellular protein transport (GO:0006886)|viral entry into host cell (GO:0046718)	actin filament (GO:0005884)|axon (GO:0030424)|early endosome (GO:0005769)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|recycling endosome (GO:0055037)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GATGGTGGTGGGCGATGCACC	0.622																																						ENST00000380445.3																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						c.(877-879)Ggc>Agc		vacuolar protein sorting 16 homolog (S. cerevisiae)							81.0	70.0	74.0					20																	2842328		2203	4300	6503	SO:0001583	missense	64601				intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome		g.chr20:2842328G>A	AF308801	CCDS13036.1, CCDS13037.1	20p13	2009-07-07	2009-07-07	2009-07-07	ENSG00000215305	ENSG00000215305			14584	protein-coding gene	gene with protein product		608550					Standard	NM_022575		Approved		uc002whe.3	Q9H269	OTTHUMG00000031714	ENST00000380445.3:c.877G>A	20.37:g.2842328G>A	ENSP00000369810:p.Gly293Ser					VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.G293S	p.G293S	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN			9	949	+			293					Q5JUB1|Q8WU31|Q96EE7|Q96N92|Q9H1Q4|Q9H1Q5	Missense_Mutation	SNP	ENST00000380445.3	37	c.877G>A	CCDS13036.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.849700	0.91277	.	.	ENSG00000215305	ENST00000380445;ENST00000380469;ENST00000453689;ENST00000417508	T;T	0.66099	0.33;-0.19	5.55	5.55	0.83447	Vps16, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78710	0.4326	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;0.962	D;P	0.87578	0.998;0.786	T	0.77887	-0.2420	10	0.39692	T	0.17	-19.2306	15.0126	0.71560	0.0:0.0:1.0:0.0	.	293;293	Q9H269-2;Q9H269	.;VPS16_HUMAN	S	293;293;175;175	ENSP00000369810:G293S;ENSP00000369836:G293S	ENSP00000369810:G293S	G	+	1	0	VPS16	2790328	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	6.282000	0.72639	2.631000	0.89168	0.603000	0.83216	GGC		0.622	VPS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077658.2	NM_022575		6	13	0	0	0	1	0	6	13				
WFS1	7466	broad.mit.edu	37	4	6304157	6304157	+	Missense_Mutation	SNP	T	T	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr4:6304157T>C	ENST00000226760.1	+	8	2805	c.2635T>C	c.(2635-2637)Ttc>Ctc	p.F879L	WFS1_ENST00000503569.1_Missense_Mutation_p.F879L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	879	Poly-Phe.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GAAGTTCGCCTTCGACTTCTT	0.622																																						ENST00000226760.1																			0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21						c.(2635-2637)Ttc>Ctc		Wolfram syndrome 1 (wolframin)							51.0	50.0	51.0					4																	6304157		2203	4300	6503	SO:0001583	missense	7466				endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding	g.chr4:6304157T>C	AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.2635T>C	4.37:g.6304157T>C	ENSP00000226760:p.Phe879Leu					WFS1_ENST00000503569.1_Missense_Mutation_p.F879L	p.F879L	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN		Colorectal(103;0.0512)	8	2805	+			879			Poly-Phe.		B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	ENST00000226760.1	37	c.2635T>C	CCDS3386.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410283	0.62399	.	.	ENSG00000109501	ENST00000503569;ENST00000226760;ENST00000540337	D;D	0.94758	-3.51;-3.51	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	D	0.93749	0.8002	L	0.32530	0.975	0.54753	D	0.999989	D	0.71674	0.998	D	0.76071	0.987	D	0.90456	0.4442	10	0.02654	T	1	-41.2462	13.456	0.61199	0.0:0.0:0.0:1.0	.	879	O76024	WFS1_HUMAN	L	879;879;257	ENSP00000423337:F879L;ENSP00000226760:F879L	ENSP00000226760:F879L	F	+	1	0	WFS1	6355058	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.277000	0.78572	1.975000	0.57531	0.459000	0.35465	TTC		0.622	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206863.1			33	12	0	0	0	1	0	33	12				
COL11A1	1301	broad.mit.edu	37	1	103352425	103352425	+	Missense_Mutation	SNP	G	G	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:103352425G>A	ENST00000370096.3	-	63	5108	c.4796C>T	c.(4795-4797)aCt>aTt	p.T1599I	COL11A1_ENST00000353414.4_Missense_Mutation_p.T1560I|COL11A1_ENST00000358392.2_Missense_Mutation_p.T1611I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T1483I	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1599	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTGGTCTGAGTACCCATTGG	0.403																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(4831-4833)aCt>aTt		collagen, type XI, alpha 1							198.0	190.0	193.0					1																	103352425		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103352425G>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.4796C>T	1.37:g.103352425G>A	ENSP00000359114:p.Thr1599Ile					COL11A1_ENST00000353414.4_Missense_Mutation_p.T1560I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T1483I|COL11A1_ENST00000370096.3_Missense_Mutation_p.T1599I	p.T1611I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	63	5149	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1599			Fibrillar collagen NC1.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.4832C>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055320	0.55325	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	5.53	5.53	0.82687	Fibrillar collagen, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	H	0.95187	3.635	0.58432	D	0.999998	P;P;D;D;B	0.57571	0.49;0.578;0.98;0.97;0.435	B;B;P;P;B	0.52386	0.406;0.283;0.572;0.697;0.283	D	0.90423	0.4418	10	0.87932	D	0	.	14.9965	0.71436	0.0:0.1421:0.8579:0.0	.	1483;1560;1611;1599;819	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	I	1599;1611;1560;819;1483	ENSP00000359114:T1599I;ENSP00000351163:T1611I;ENSP00000302551:T1560I;ENSP00000426533:T1483I	ENSP00000302551:T1560I	T	-	2	0	COL11A1	103125013	1.000000	0.71417	0.945000	0.38365	0.920000	0.55202	7.884000	0.87274	2.608000	0.88229	0.313000	0.20887	ACT		0.403	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		12	38	0	0	0	1	0	12	38				
TP53	7157	broad.mit.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	rs397516437|rs28934573		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr17:7577559G>T	ENST00000269305.4	-	7	911	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000420246.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM920673	TP53	M	rs28934573	c.(721-723)tCc>tAc	Other conserved DNA damage response genes	tumor protein p53							139.0	108.0	118.0					17																	7577559		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577559G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>A	17.37:g.7577559G>T	ENSP00000269305:p.Ser241Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Missense_Mutation_p.S241Y|TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y	p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	854	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	241		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.722C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.341685	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.52501	D	0.999952	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96551	0.9408	10	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	.	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Y	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241Y;ENSP00000352610:S241Y;ENSP00000269305:S241Y;ENSP00000398846:S241Y;ENSP00000391127:S241Y;ENSP00000391478:S241Y;ENSP00000425104:S109Y;ENSP00000423862:S148Y	ENSP00000269305:S241Y	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		34	6	1	0	6.97489e-18	1	7.49429e-18	34	6				
ECSIT	51295	broad.mit.edu	37	19	11624812	11624812	+	Missense_Mutation	SNP	A	A	C			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:11624812A>C	ENST00000270517.7	-	3	456	c.321T>G	c.(319-321)atT>atG	p.I107M	ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000592312.1_De_novo_Start_InFrame|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.I107M|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Missense_Mutation_p.I107M|RN7SL833P_ENST00000498758.2_RNA	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	107					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						AGATGAAGTCAATGTGGCCCC	0.602																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(319-321)atT>atG		ECSIT signalling integrator							131.0	94.0	106.0					19																	11624812		2203	4300	6503	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11624812A>C	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.321T>G	19.37:g.11624812A>C	ENSP00000270517:p.Ile107Met					ECSIT_ENST00000592312.1_De_novo_Start_InFrame|ECSIT_ENST00000591104.1_Missense_Mutation_p.I107M|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.I107M|ECSIT_ENST00000417981.2_Intron	p.I107M	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			3	456	-			107					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.321T>G	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	a	16.64	3.180548	0.57800	.	.	ENSG00000130159	ENST00000270517;ENST00000252440	T;T	0.77489	-1.1;-1.1	5.71	-11.3	0.00108	.	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	N	0.08118	0	0.80722	D	1	B;B	0.33826	0.141;0.427	B;B	0.39617	0.132;0.305	T	0.62072	-0.6931	10	0.87932	D	0	-29.7861	12.5504	0.56223	0.3902:0.4274:0.1824:0.0	.	107;107	Q9BQ95-2;Q9BQ95	.;ECSIT_HUMAN	M	107	ENSP00000270517:I107M;ENSP00000252440:I107M	ENSP00000252440:I107M	I	-	3	3	ECSIT	11485812	0.612000	0.27000	0.819000	0.32651	0.694000	0.40290	-0.181000	0.09740	-1.210000	0.02627	-0.427000	0.05922	ATT		0.602	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		66	17	0	0	0	1	0	66	17				
PKD2L1	9033	broad.mit.edu	37	10	102054719	102054719	+	Silent	SNP	A	A	G			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr10:102054719A>G	ENST00000318222.3	-	8	1900	c.1518T>C	c.(1516-1518)ttT>ttC	p.F506F	PKD2L1_ENST00000338519.3_Silent_p.F431F|PKD2L1_ENST00000353274.3_Silent_p.F506F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	506					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGAAAGTGCTAAAGTTTTCCA	0.542																																						ENST00000318222.3																			0				NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1516-1518)ttT>ttC		polycystic kidney disease 2-like 1							126.0	123.0	124.0					10																	102054719		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102054719A>G	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1518T>C	10.37:g.102054719A>G						PKD2L1_ENST00000353274.3_Silent_p.F506F|PKD2L1_ENST00000338519.3_Silent_p.F431F	p.F506F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	8	1900	-		Colorectal(252;0.117)	506					O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.1518T>C	CCDS7492.1																																																																																				0.542	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		13	32	0	0	0	1	0	13	32				
PGBD1	84547	broad.mit.edu	37	6	28264666	28264666	+	Missense_Mutation	SNP	G	G	C	rs115946459		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:28264666G>C	ENST00000405948.2	+	5	1136	c.716G>C	c.(715-717)cGg>cCg	p.R239P	PGBD1_ENST00000259883.3_Missense_Mutation_p.R239P	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	239						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R239Q(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTCTGACTCGGAGGAACCTC	0.507																																						ENST00000405948.2																			1	Substitution - Missense(1)	p.R239Q(1)	ovary(1)	endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(715-717)cGg>cCg		piggyBac transposable element derived 1							114.0	105.0	108.0					6																	28264666		2203	4300	6503	SO:0001583	missense	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28264666G>C	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.716G>C	6.37:g.28264666G>C	ENSP00000385213:p.Arg239Pro					PGBD1_ENST00000259883.3_Missense_Mutation_p.R239P	p.R239P	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN			5	1136	+			239					Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	37	c.716G>C	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	7.186	0.590481	0.13812	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01406	4.93;4.93	4.01	-0.0146	0.13980	.	1.839010	0.03458	N	0.211816	T	0.00300	0.0009	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45234	-0.9275	10	0.30078	T	0.28	-20.8605	4.2593	0.10733	0.6877:0.2002:0.1121:0.0	.	239	Q96JS3	PGBD1_HUMAN	P	239	ENSP00000385213:R239P;ENSP00000259883:R239P	ENSP00000259883:R239P	R	+	2	0	PGBD1	28372645	0.000000	0.05858	0.068000	0.19968	0.833000	0.47200	-0.670000	0.05256	0.282000	0.22254	-0.436000	0.05848	CGG		0.507	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			15	83	0	0	0	1	0	15	83				
ROS1	6098	broad.mit.edu	37	6	117686852	117686852	+	Silent	SNP	T	T	A			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr6:117686852T>A	ENST00000368508.3	-	19	3063	c.2865A>T	c.(2863-2865)tcA>tcT	p.S955S	ROS1_ENST00000368507.3_Silent_p.S950S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	955	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAATCCTAAATGAAGACTCTT	0.388			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(2863-2865)tcA>tcT		c-ros oncogene 1 , receptor tyrosine kinase							45.0	44.0	45.0					6																	117686852		2203	4300	6503	SO:0001819	synonymous_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117686852T>A	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2865A>T	6.37:g.117686852T>A						GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.S950S	p.S955S	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	19	3063	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	955			Fibronectin type-III 4.		Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	c.2865A>T	CCDS5116.1																																																																																				0.388	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			21	4	0	0	0	1	0	21	4				
FRRS1	391059	broad.mit.edu	37	1	100181217	100181217	+	Missense_Mutation	SNP	C	C	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:100181217C>T	ENST00000414213.1	-	12	1849	c.1248G>A	c.(1246-1248)atG>atA	p.M416I	FRRS1_ENST00000492943.1_5'Flank|FRRS1_ENST00000287474.5_Missense_Mutation_p.M416I			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	416	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.					integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		TGAACATGAGCATCCGATGCA	0.418																																						ENST00000414213.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26						c.(1246-1248)atG>atA		ferric-chelate reductase 1							101.0	96.0	98.0					1																	100181217		2203	4300	6503	SO:0001583	missense	391059				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding	g.chr1:100181217C>T	AK131302	CCDS30780.1	1p21.3	2009-11-30	2006-02-22	2006-02-22	ENSG00000156869	ENSG00000156869			27622	protein-coding gene	gene with protein product		611578	"""stromal cell derived factor receptor 2 homolog (mouse)"""	SDFR2			Standard	NM_001013660		Approved	SDR2	uc001dsh.1	Q6ZNA5	OTTHUMG00000010768	ENST00000414213.1:c.1248G>A	1.37:g.100181217C>T	ENSP00000393884:p.Met416Ile					FRRS1_ENST00000287474.5_Missense_Mutation_p.M416I	p.M416I			Q6ZNA5	FRRS1_HUMAN		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)	12	1849	-		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)	416			Cytochrome b561.		A6NLN7	Missense_Mutation	SNP	ENST00000414213.1	37	c.1248G>A		.	.	.	.	.	.	.	.	.	.	C	3.629	-0.075849	0.07184	.	.	ENSG00000156869	ENST00000414213;ENST00000287474	.	.	.	5.47	1.21	0.21127	.	0.753768	0.13385	N	0.391844	T	0.06554	0.0168	N	0.02960	-0.455	0.29974	N	0.818277	B	0.09022	0.002	B	0.12837	0.008	T	0.39292	-0.9621	9	0.21014	T	0.42	-1.0111	10.0593	0.42263	0.4324:0.4555:0.1121:0.0	.	416	Q6ZNA5-2	.	I	416	.	ENSP00000287474:M416I	M	-	3	0	FRRS1	99953805	0.096000	0.21769	0.755000	0.31263	0.248000	0.25809	0.208000	0.17415	0.761000	0.33130	0.460000	0.39030	ATG		0.418	FRRS1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001013660		16	16	0	0	0	1	0	16	16				
PARP9	83666	broad.mit.edu	37	3	122247220	122247220	+	Silent	SNP	A	A	T			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:122247220A>T	ENST00000360356.2	-	11	2783	c.2556T>A	c.(2554-2556)ccT>ccA	p.P852P	PARP9_ENST00000492382.1_Silent_p.P397P|PARP9_ENST00000477522.2_Silent_p.P817P|PARP9_ENST00000471785.1_Silent_p.P817P	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	852					cell migration (GO:0016477)|double-strand break repair (GO:0006302)|regulation of response to interferon-gamma (GO:0060330)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ATTAATCAACAGGGCTGCCAC	0.453																																						ENST00000360356.2																			0				endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34						c.(2554-2556)ccT>ccA		poly (ADP-ribose) polymerase family, member 9							108.0	101.0	104.0					3																	122247220		2203	4300	6503	SO:0001819	synonymous_variant	83666				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr3:122247220A>T	AF307339	CCDS3014.1, CCDS54633.1, CCDS54634.1	3q13-q21	2010-02-16			ENSG00000138496	ENSG00000138496		"""Poly (ADP-ribose) polymerases"""	24118	protein-coding gene	gene with protein product		612065				11110709	Standard	NM_031458		Approved	BAL, BAL1	uc003efi.3	Q8IXQ6	OTTHUMG00000159522	ENST00000360356.2:c.2556T>A	3.37:g.122247220A>T						PARP9_ENST00000477522.2_Silent_p.P817P|PARP9_ENST00000471785.1_Silent_p.P817P|PARP9_ENST00000492382.1_Silent_p.P397P	p.P852P	NM_001146102.1|NM_031458.2	NP_001139574.1|NP_113646.2	Q8IXQ6	PARP9_HUMAN		GBM - Glioblastoma multiforme(114;0.0519)	11	2783	-			852					A8KA94|B2R8S9|E9PFM7|Q8TCP3|Q9BZL8|Q9BZL9	Silent	SNP	ENST00000360356.2	37	c.2556T>A	CCDS3014.1																																																																																				0.453	PARP9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355957.1	NM_031458		28	48	0	0	0	1	0	28	48				
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	GCT	-	rs149440400		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:154680586_154680588delGCT	ENST00000271915.4	-	8	2375_2377	c.2060_2062delAGC	c.(2059-2064)cagctc>ctc	p.Q687del	KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000361147.4_In_Frame_Del_p.Q382del|KCNN3_ENST00000358505.2_In_Frame_Del_p.Q374del	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	692					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	GCAGACAGGAGCTGCTGCTGCTG	0.64																																						ENST00000271915.3																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28						c.(2059-2064)ctc>c		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3																																				SO:0001651	inframe_deletion	3782					integral to membrane	calmodulin binding	g.chr1:154680586_154680588delGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.2060_2062delAGC	1.37:g.154680595_154680597delGCT	ENSP00000271915:p.Gln687del					KCNN3_ENST00000358505.2_In_Frame_Del_p.QL374del|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000361147.4_In_Frame_Del_p.QL382del	p.QL687del	NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00819)		8	2375_2377	-	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		692					B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Del	DEL	ENST00000271915.4	37	c.2060_2062delAGC	CCDS30880.1																																																																																				0.640	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249		9	325						9	325	---	---	---	---
ZBTB7B	51043	broad.mit.edu	37	1	154987310	154987312	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:154987310_154987312delCTT	ENST00000368426.3	+	3	311_313	c.174_176delCTT	c.(172-177)tacttc>tac	p.F59del	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_In_Frame_Del_p.F59del|ZBTB7B_ENST00000417934.2_In_Frame_Del_p.F93del|ZBTB7B_ENST00000292176.2_In_Frame_Del_p.F59del	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	59	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTAGCCACTACTTCAAGAAGCTT	0.65																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(172-177)tac>ta		zinc finger and BTB domain containing 7B																																				SO:0001651	inframe_deletion	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987310_154987312delCTT	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.174_176delCTT	1.37:g.154987310_154987312delCTT	ENSP00000357411:p.Phe59del					ZBTB7B_ENST00000292176.2_In_Frame_Del_p.YF58del|ZBTB7B_ENST00000417934.2_In_Frame_Del_p.YF92del|ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_In_Frame_Del_p.YF58del	p.YF58del	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	311_313	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		58			BTB.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	In_Frame_Del	DEL	ENST00000368426.3	37	c.174_176delCTT	CCDS1081.1																																																																																				0.650	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		232	51						232	51	---	---	---	---
KIF14	9928	broad.mit.edu	37	1	200522651	200522653	+	In_Frame_Del	DEL	TTC	TTC	-	rs201934562|rs200536297		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr1:200522651_200522653delTTC	ENST00000367350.4	-	30	5248_5250	c.4810_4812delGAA	c.(4810-4812)gaadel	p.E1604del		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1604	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTGTTGGTGTTCTTCTTTGGTA	0.419																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(4810-4812)del		kinesin family member 14																																				SO:0001651	inframe_deletion	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200522651_200522653delTTC	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.4810_4812delGAA	1.37:g.200522654_200522656delTTC	ENSP00000356319:p.Glu1604del						p.E1604del	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			30	5248_5250	-			1604			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	In_Frame_Del	DEL	ENST00000367350.4	37	c.4810_4812delGAA	CCDS30963.1																																																																																				0.419	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		13	29						13	29	---	---	---	---
AC012363.13	0	broad.mit.edu	37	2	121080891	121080893	+	lincRNA	DEL	CCT	CCT	-	rs568341919|rs138298647	byFrequency	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr2:121080891_121080893delCCT	ENST00000437837.1	+	0	132																											CTGCCTCCCCCCTCCTCCTCCTC	0.542																																						ENST00000437837.1																			0																																																			0							g.chr2:121080891_121080893delCCT																													2.37:g.121080900_121080902delCCT														0	132	+									RNA	DEL	ENST00000437837.1	37																																																																																						0.542	AC012363.13-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000338463.1			3	6						3	6	---	---	---	---
GNAI2	2771	broad.mit.edu	37	3	50290582	50290582	+	Frame_Shift_Del	DEL	T	T	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:50290582delT	ENST00000313601.6	+	4	814	c.430delT	c.(430-432)tcafs	p.S144fs	GNAI2_ENST00000266027.5_Frame_Shift_Del_p.S128fs|GNAI2_ENST00000451956.1_Frame_Shift_Del_p.S107fs|GNAI2_ENST00000536647.1_Frame_Shift_Del_p.S63fs|GNAI2_ENST00000440628.1_Frame_Shift_Del_p.S92fs|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000422163.1_Frame_Shift_Del_p.S128fs	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	144					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	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)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		CTTTGGCCGCTCAAGGGAATA	0.657																																						ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.(430-432)cafs		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							163.0	153.0	156.0					3																	50290582		2203	4300	6503	SO:0001589	frameshift_variant	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50290582delT	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.430delT	3.37:g.50290582delT	ENSP00000312999:p.Ser144fs					GNAI2_ENST00000422163.1_Frame_Shift_Del_p.S128fs|GNAI2_ENST00000451956.1_Frame_Shift_Del_p.S107fs|GNAI2_ENST00000440628.1_Frame_Shift_Del_p.S92fs|GNAI2_ENST00000536647.1_Frame_Shift_Del_p.S63fs|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000266027.5_Frame_Shift_Del_p.S128fs	p.S144fs	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	4	814	+			144					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Frame_Shift_Del	DEL	ENST00000313601.6	37	c.430delT	CCDS2813.1																																																																																				0.657	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070		13	232						13	232	---	---	---	---
ALG1L2	644974	broad.mit.edu	37	3	129816899	129816900	+	RNA	INS	-	-	ATG	rs200183235|rs377006553	byFrequency	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr3:129816899_129816900insATG	ENST00000507643.1	+	0	647				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										TTCCAGAAAGCATGTCAAGATG	0.589														506	0.101038	0.1195	0.0432	5008	,	,		16512	0.1508		0.0537	False		,,,				2504	0.1145					ENST00000507643.1																			0																																																			0				biosynthetic process		transferase activity, transferring glycosyl groups	g.chr3:129816899_129816900insATG	BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129816900_129816902dupATG										C9J202	AG1L2_HUMAN			0	647	+									RNA	INS	ENST00000507643.1	37																																																																																						0.589	ALG1L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357289.1	NM_001136152		3	4						3	4	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67589632	67589643	+	In_Frame_Del	DEL	ATTATATGAAGA	ATTATATGAAGA	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr5:67589632_67589643delATTATATGAAGA	ENST00000521381.1	+	11	2011_2022	c.1395_1406delATTATATGAAGA	c.(1393-1407)agattatatgaagaa>aga	p.LYEE466del	PIK3R1_ENST00000396611.1_In_Frame_Del_p.LYEE466del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.LYEE466del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.LYEE166del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.LYEE466del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.LYEE103del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.LYEE196del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	466					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.Y463_L466del(1)|p.D434_Q475del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AATATGATAGATTATATGAAGAATATACCCGC	0.288			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		4	Deletion - In frame(2)|Whole gene deletion(1)|Unknown(1)	p.Y463_L466del(1)|p.D434_Q475del(1)|p.0?(1)|p.?(1)	endometrium(2)|large_intestine(1)|lung(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1393-1407)aga>ag		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589632_67589643delATTATATGAAGA	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1395_1406delATTATATGAAGA	5.37:g.67589632_67589643delATTATATGAAGA	ENSP00000428056:p.Leu466_Glu469del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000396611.1_In_Frame_Del_p.RLYEE465del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.RLYEE102del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.RLYEE195del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.RLYEE465del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.RLYEE165del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.RLYEE465del	p.RLYEE465del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	2011_2022	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	465					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1395_1406delATTATATGAAGA	CCDS3993.1																																																																																				0.288	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		19	26						19	26	---	---	---	---
ARAP1	116985	broad.mit.edu	37	11	72425328	72425328	+	Frame_Shift_Del	DEL	A	A	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr11:72425328delA	ENST00000393609.3	-	4	750	c.548delT	c.(547-549)ttafs	p.L183fs	ARAP1_ENST00000334211.8_5'UTR|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000455638.2_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000359373.5_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000393605.3_5'Flank	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	183					actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGGGGATGATAATGATGGCAG	0.592																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(547-549)tafs		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							29.0	32.0	31.0					11																	72425328		2022	4169	6191	SO:0001589	frameshift_variant	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72425328delA	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.548delT	11.37:g.72425328delA	ENSP00000377233:p.Leu183fs					ARAP1_ENST00000455638.2_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000429686.1_5'UTR|ARAP1_ENST00000426523.1_5'UTR|ARAP1_ENST00000393609.3_Frame_Shift_Del_p.L183fs|ARAP1_ENST00000334211.8_5'UTR	p.L183fs			Q96P48	ARAP1_HUMAN			4	1399	-			183					A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Frame_Shift_Del	DEL	ENST00000393609.3	37	c.548delT	CCDS41687.1																																																																																				0.592	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		2	4						2	4	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81471942	81471942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr12:81471942delG	ENST00000548058.1	+	1	953	c.43delG	c.(43-45)gggfs	p.G16fs	ACSS3_ENST00000261206.3_Frame_Shift_Del_p.G16fs			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	16						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CACCAGCGCCGGGGGGCTCGG	0.697																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(43-45)ggfs		acyl-CoA synthetase short-chain family member 3				8,3796		1,6,1895	4.0	5.0	5.0			-2.4	0.6	12		5	16,7448		3,10,3719	no	frameshift	ACSS3	NM_024560.2		4,16,5614	A1A1,A1R,RR		0.2144,0.2103,0.213			81471942	24,11244	2063	4026	6089	SO:0001589	frameshift_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81471942delG		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.43delG	12.37:g.81471942delG	ENSP00000449535:p.Gly16fs					ACSS3_ENST00000261206.3_Frame_Shift_Del_p.G16fs	p.G16fs			Q9H6R3	ACSS3_HUMAN			1	953	+			16					Q8NC66	Frame_Shift_Del	DEL	ENST00000548058.1	37	c.43delG	CCDS9022.1																																																																																				0.697	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		2	4						2	4	---	---	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del|RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	ENST00000554752.2																			1	Deletion - In frame(1)	p.E38delE(1)	ovary(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46						c.(112-117)gcg>g		mitogen-activated protein kinase kinase kinase 9																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del|MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del	p.EA38del			P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	112_114	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			4	4						4	4	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25438450	25438451	+	RNA	INS	-	-	TGG			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr15:25438450_25438451insTGG	ENST00000424208.1	+	0	1309_1310				SNHG14_ENST00000456576.1_RNA|SNORD115-12_ENST00000362583.1_RNA|SNHG14_ENST00000414175.1_RNA|SNORD115-14_ENST00000363090.1_RNA|SNHG14_ENST00000363358.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		ATGCGCCGGGAAGGACGTGCCC	0.545																																						ENST00000424208.1																			0																																																			0							g.chr15:25438450_25438451insTGG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25438450_25438451insTGG						SNHG14_ENST00000414175.1_RNA		NR_003305.1						0	1309_1310	+									RNA	INS	ENST00000424208.1	37																																																																																						0.545	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			16	493						16	493	---	---	---	---
TPSD1	23430	broad.mit.edu	37	16	1311513	1311514	+	IGR	INS	-	-	GGCA	rs373068358|rs57292543|rs3085832	byFrequency	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:1311513_1311514insGGCA	ENST00000397534.2	+	0	896				PRSS29P_ENST00000568091.1_lincRNA			Q9BZJ3	TRYD_HUMAN	tryptase delta 1							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GGTGGGAGCAGGGCAGGCAGGC	0.708														2689	0.536941	0.4463	0.5159	5008	,	,		14106	0.8403		0.3648	False		,,,				2504	0.5389					ENST00000568091.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:1311513_1311514insGGCA	AF206664	CCDS10432.1	16p13.3	2008-07-29			ENSG00000095917	ENSG00000095917	3.4.21.59		14118	protein-coding gene	gene with protein product	"""mMCP-7-like II"", ""mMCP-7-like I"", ""MMCP-7-LIKE-2"""	609272				9920877	Standard	NM_012217		Approved		uc002clb.1	Q9BZJ3	OTTHUMG00000128511		16.37:g.1311518_1311521dupGGCA														0	1353	-								O95824|Q8TDI6|Q96L36|Q96RZ5|Q9H2Y6|Q9UQI8	RNA	INS	ENST00000397534.2	37																																																																																						0.708	TPSD1-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000250376.2			3	5						3	5	---	---	---	---
PKD1L2	114780	broad.mit.edu	37	16	81183625	81183625	+	RNA	DEL	T	T	-	rs537660277|rs5818322|rs10617579	byFrequency	TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:81183625delT	ENST00000525539.1	-	0	4553				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTGTTCACACttttttttttt	0.468																																						ENST00000525539.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2																																						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81183625delT	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81183625delT						PKD1L2_ENST00000533478.1_RNA		NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN			0	4553	-								Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	DEL	ENST00000525539.1	37																																																																																						0.468	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			2	4						2	4	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89351717	89351728	+	In_Frame_Del	DEL	CGACGTGTCTGA	CGACGTGTCTGA	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr16:89351717_89351728delCGACGTGTCTGA	ENST00000301030.4	-	9	1682_1693	c.1222_1233delTCAGACACGTCG	c.(1222-1233)tcagacacgtcgdel	p.SDTS408del	ANKRD11_ENST00000378330.2_In_Frame_Del_p.SDTS408del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	408					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCTCCTCGTCCGACGTGTCTGACAGGATACGA	0.462																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(1222-1233)del		ankyrin repeat domain 11																																				SO:0001651	inframe_deletion	29123					nucleus		g.chr16:89351717_89351728delCGACGTGTCTGA	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.1222_1233delTCAGACACGTCG	16.37:g.89351717_89351728delCGACGTGTCTGA	ENSP00000301030:p.Ser408_Ser411del					ANKRD11_ENST00000378330.2_In_Frame_Del_p.SDTS408del	p.SDTS408del	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	1682_1693	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	408					Q6NTG1|Q6QMF8	In_Frame_Del	DEL	ENST00000301030.4	37	c.1222_1233delTCAGACACGTCG	CCDS32513.1																																																																																				0.462	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		22	33						22	33	---	---	---	---
RP11-53I6.2	0	broad.mit.edu	37	18	29656287	29656288	+	RNA	INS	-	-	T	rs566452118		TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr18:29656287_29656288insT	ENST00000583184.1	+	0	539																											ttgtttttttgttttttttttg	0.441																																						ENST00000583184.1																			0																																																			0							g.chr18:29656287_29656288insT																													18.37:g.29656297_29656297dupT														0	539	+									RNA	INS	ENST00000583184.1	37																																																																																						0.441	RP11-53I6.2-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000447730.1			3	6						3	6	---	---	---	---
ATF5	22809	broad.mit.edu	37	19	50436066	50436068	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:50436066_50436068delCTT	ENST00000423777.2	+	3	943_945	c.566_568delCTT	c.(565-570)ccttct>cct	p.S190del	CTC-326K19.6_ENST00000451973.1_Intron|ATF5_ENST00000595125.1_In_Frame_Del_p.S190del|MIR4751_ENST00000578027.1_RNA	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	190	Interaction with PTP4A1. {ECO:0000250}.|Poly-Pro.				multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|olfactory bulb interneuron development (GO:0021891)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription corepressor activity (GO:0003714)			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	Pseudoephedrine(DB00852)	CCCCCTCCTCCTTCTCCACCTCA	0.64																																					GBM(48;768 989 9196 9511 26329)	ENST00000423777.2																			0				NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7						c.(565-570)cct>c		activating transcription factor 5																																				SO:0001651	inframe_deletion	22809				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:50436066_50436068delCTT	AF101388	CCDS12789.1	19q13.33	2013-09-20			ENSG00000169136	ENSG00000169136		"""basic leucine zipper proteins"""	790	protein-coding gene	gene with protein product		606398				10373550	Standard	NM_012068		Approved		uc002prd.3	Q9Y2D1	OTTHUMG00000183065	ENST00000423777.2:c.566_568delCTT	19.37:g.50436066_50436068delCTT	ENSP00000396954:p.Ser190del					ATF5_ENST00000595125.1_In_Frame_Del_p.PS189del|CTC-326K19.6_ENST00000451973.1_Intron	p.PS189del	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)	3	943_945	+		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	189			Interaction with PTP4A1 (By similarity).|Poly-Pro.		B3KND3|Q9BSA1|Q9UNQ3	In_Frame_Del	DEL	ENST00000423777.2	37	c.566_568delCTT	CCDS12789.1																																																																																				0.640	ATF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464915.2			11	18						11	18	---	---	---	---
BRSK1	84446	broad.mit.edu	37	19	55816083	55816083	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QN-A5NN-01A-11D-A28R-08	TCGA-QN-A5NN-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abcd4890-6e74-475f-aa72-07c9da4ee26d	4ebb48b7-7795-477b-86b2-85ad659c3abe	g.chr19:55816083delC	ENST00000309383.1	+	14	1789	c.1512delC	c.(1510-1512)ggcfs	p.G504fs	BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Frame_Shift_Del_p.G199fs|BRSK1_ENST00000590333.1_Frame_Shift_Del_p.G520fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	504	Pro-rich.				axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CCCTGCCCGGCCCCCCAGGCT	0.771																																						ENST00000309383.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48						c.(1510-1512)ggfs		BR serine/threonine kinase 1				6,1604		3,0,802	1.0	2.0	2.0			4.0	0.8	19		2	13,3989		3,7,1991	no	frameshift	BRSK1	NM_032430.1		6,7,2793	A1A1,A1R,RR		0.3248,0.3727,0.3386			55816083	19,5593	933	2252	3185	SO:0001589	frameshift_variant	84446				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	g.chr19:55816083delC	AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1512delC	19.37:g.55816083delC	ENSP00000310649:p.Gly504fs					BRSK1_ENST00000590333.1_Frame_Shift_Del_p.G520fs|BRSK1_ENST00000326848.7_Frame_Shift_Del_p.G199fs|BRSK1_ENST00000588584.1_3'UTR	p.G504fs	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)	14	1789	+		Renal(1328;0.245)	504			Pro-rich.		F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Frame_Shift_Del	DEL	ENST00000309383.1	37	c.1512delC	CCDS12921.1																																																																																				0.771	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452787.1	NM_032430		3	3						3	3	---	---	---	---
