#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRAMEF4	400735	broad.mit.edu	37	1	12943166	12943166	+	Missense_Mutation	SNP	C	C	T	rs557623677		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:12943166C>T	ENST00000235349.5	-	2	120	c.50G>A	c.(49-51)cGg>cAg	p.R17Q		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	17					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.R17Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TAGCAGGCTCCGCCCTGCAAG	0.562																																						uc001aun.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(49-51)CGG>CAG		PRAME family member 4							131.0	136.0	134.0					1																	12943166		2185	4284	6469	SO:0001583	missense	400735							g.chr1:12943166C>T		CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.50G>A	1.37:g.12943166C>T	ENSP00000235349:p.Arg17Gln						p.R17Q	NM_001009611	NP_001009611	O60810	PRAM4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	121	-	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	17					Q5LJB5	Missense_Mutation	SNP	ENST00000235349.5	37	c.50G>A	CCDS30592.1	.	.	.	.	.	.	.	.	.	.	c	0.006	-2.089601	0.00367	.	.	ENSG00000243073	ENST00000235349	T	0.04406	3.63	1.48	-2.96	0.05547	.	0.958104	0.08628	N	0.917481	T	0.01254	0.0041	N	0.01009	-1.055	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44251	-0.9340	10	0.02654	T	1	.	5.8318	0.18584	0.0:0.3463:0.0:0.6537	.	17	O60810	PRAM4_HUMAN	Q	17	ENSP00000235349:R17Q	ENSP00000235349:R17Q	R	-	2	0	PRAMEF4	12865753	0.000000	0.05858	0.002000	0.10522	0.014000	0.08584	-3.025000	0.00640	-0.932000	0.03742	-1.540000	0.00911	CGG		PASS	0.562	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005518.1	NM_001009611		151	280	151	280	---	---	---	---
CYP4A22	284541	broad.mit.edu	37	1	47607784	47607784	+	Nonsense_Mutation	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:47607784C>G	ENST00000371891.3	+	4	418	c.387C>G	c.(385-387)taC>taG	p.Y129*	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Nonsense_Mutation_p.Y129*|CYP4A22_ENST00000294337.3_Nonsense_Mutation_p.Y129*|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	129						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.Y129*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTTAGGGTACGGCTTGCTCC	0.537																																					Pancreas(88;1240 1470 2099 14214 37557)	uc001cqv.1																			1	Substitution - Nonsense(1)		lung(1)	skin(2)|ovary(1)|breast(1)	4						c.(385-387)TAC>TAG		cytochrome P450, family 4, subfamily A,							99.0	83.0	88.0					1																	47607784		2203	4300	6503	SO:0001587	stop_gained	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47607784C>G		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.387C>G	1.37:g.47607784C>G	ENSP00000360958:p.Tyr129*					CYP4A22_uc009vyo.2_Nonsense_Mutation_p.Y129*|CYP4A22_uc009vyp.2_Nonsense_Mutation_p.Y129*	p.Y129*	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN			4	438	+			129					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Nonsense_Mutation	SNP	ENST00000371891.3	37	c.387C>G	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	c	16.43	3.121701	0.56613	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	.	.	.	1.7	-3.39	0.04868	.	0.988277	0.08245	N	0.975493	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	0.9785	0.01431	0.4461:0.2262:0.1138:0.2139	.	.	.	.	X	129	.	ENSP00000294337:Y129X	Y	+	3	2	CYP4A22	47380371	0.000000	0.05858	0.031000	0.17742	0.673000	0.39480	-3.856000	0.00349	-1.380000	0.02115	0.195000	0.17529	TAC		PASS	0.537	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		13	50	13	50	---	---	---	---
ZYG11B	79699	broad.mit.edu	37	1	53262037	53262037	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:53262037G>T	ENST00000294353.6	+	7	1553	c.1408G>T	c.(1408-1410)Gct>Tct	p.A470S	ZYG11B_ENST00000443756.2_Missense_Mutation_p.A470S|ZYG11B_ENST00000545132.1_Missense_Mutation_p.A470S	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	470								p.A470S(1)		breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						GATGGCAGTTGCTATCATTTC	0.428																																						uc001cuj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|pancreas(1)	4						c.(1408-1410)GCT>TCT		zyg-11 homolog B							83.0	77.0	79.0					1																	53262037		2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53262037G>T	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.1408G>T	1.37:g.53262037G>T	ENSP00000294353:p.Ala470Ser					ZYG11B_uc009vzg.2_RNA|ZYG11B_uc010onj.1_Missense_Mutation_p.A461S|ZYG11B_uc009vzh.2_5'Flank	p.A470S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN			7	1603	+			470					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.1408G>T	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044758	0.55110	.	.	ENSG00000162378	ENST00000443756;ENST00000545132;ENST00000294353	T;T;T	0.40476	1.03;1.03;1.03	5.43	5.43	0.79202	Armadillo-like helical (1);Armadillo-type fold (1);	0.101254	0.64402	D	0.000002	T	0.49643	0.1569	L	0.35542	1.07	0.80722	D	1	D;B	0.61697	0.99;0.006	P;B	0.59825	0.864;0.017	T	0.26815	-1.0092	10	0.16896	T	0.51	.	19.2495	0.93917	0.0:0.0:1.0:0.0	.	470;470	B4DK95;Q9C0D3	.;ZY11B_HUMAN	S	470	ENSP00000400522:A470S;ENSP00000441315:A470S;ENSP00000294353:A470S	ENSP00000294353:A470S	A	+	1	0	ZYG11B	53034625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.660000	0.68018	2.544000	0.85801	0.563000	0.77884	GCT		PASS	0.428	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	NM_024646		13	63	13	63	---	---	---	---
ERICH3	127254	broad.mit.edu	37	1	75037416	75037416	+	Silent	SNP	T	T	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:75037416T>A	ENST00000326665.5	-	14	4196	c.3978A>T	c.(3976-3978)acA>acT	p.T1326T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1326	Glu-rich.							p.T1326T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CATTCTTTTGTGTGTTTCCTT	0.557																																						uc001dgg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	5						c.(3976-3978)ACA>ACT		hypothetical protein LOC127254							282.0	256.0	265.0					1																	75037416		2203	4300	6503	SO:0001819	synonymous_variant	127254							g.chr1:75037416T>A																												ENST00000326665.5:c.3978A>T	1.37:g.75037416T>A							p.T1326T	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN			14	4197	-			1326			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Silent	SNP	ENST00000326665.5	37	c.3978A>T	CCDS30755.1																																																																																				PASS	0.557	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			119	237	119	237	---	---	---	---
BTBD8	284697	broad.mit.edu	37	1	92613244	92613244	+	Missense_Mutation	SNP	G	G	T	rs150938488		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:92613244G>T	ENST00000342818.3	+	9	1259	c.1023G>T	c.(1021-1023)tgG>tgT	p.W341C	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	341						nucleus (GO:0005634)		p.W341C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TTAACAGGTGGATTGTAAAGC	0.289																																						uc001doo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1021-1023)TGG>TGT		BTB (POZ) domain containing 8							81.0	82.0	82.0					1																	92613244		2201	4300	6501	SO:0001583	missense	284697					nucleus		g.chr1:92613244G>T	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.1023G>T	1.37:g.92613244G>T	ENSP00000343686:p.Trp341Cys					BTBD8_uc010otc.1_RNA	p.W341C	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	9	1290	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	341					Q6V9S5	Missense_Mutation	SNP	ENST00000342818.3	37	c.1023G>T	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.570059	0.28003	.	.	ENSG00000189195	ENST00000342818	T	0.65732	-0.17	5.14	2.03	0.26663	.	0.337858	0.26176	N	0.025896	T	0.32971	0.0847	L	0.39898	1.24	0.80722	D	1	B	0.14012	0.009	B	0.14023	0.01	T	0.15607	-1.0431	10	0.45353	T	0.12	0.2762	10.1504	0.42788	0.0:0.2694:0.5801:0.1505	.	341	Q5XKL5	BTBD8_HUMAN	C	341	ENSP00000343686:W341C	ENSP00000343686:W341C	W	+	3	0	BTBD8	92385832	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.932000	0.40143	0.201000	0.20466	0.563000	0.77884	TGG		PASS	0.289	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242		12	35	12	35	---	---	---	---
TRMT13	54482	broad.mit.edu	37	1	100614189	100614189	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:100614189G>C	ENST00000370141.2	+	11	1265	c.1259G>C	c.(1258-1260)aGt>aCt	p.S420T		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	420					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.S420T(1)									AGGCTTCTTAGTGTTGAAGAA	0.318																																						uc001dsv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1258-1260)AGT>ACT		coiled-coil domain containing 76							62.0	67.0	65.0					1																	100614189		2203	4300	6503	SO:0001583	missense	54482				tRNA processing		metal ion binding|methyltransferase activity	g.chr1:100614189G>C	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.1259G>C	1.37:g.100614189G>C	ENSP00000359160:p.Ser420Thr					CCDC76_uc010ouf.1_RNA|CCDC76_uc009wea.2_Missense_Mutation_p.V276L	p.S420T	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)	11	1278	+		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	420					Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.1259G>C	CCDS765.1	.	.	.	.	.	.	.	.	.	.	G	2.569	-0.300096	0.05532	.	.	ENSG00000122435	ENST00000370141	T	0.42513	0.97	5.82	4.89	0.63831	Methyltransferase TRM13 (1);	0.332646	0.36134	N	0.002770	T	0.07683	0.0193	N	0.03917	-0.325	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21930	-1.0231	10	0.02654	T	1	-7.516	16.6009	0.84815	0.0:0.7236:0.2764:0.0	.	420	Q9NUP7	TRM13_HUMAN	T	420	ENSP00000359160:S420T	ENSP00000359160:S420T	S	+	2	0	CCDC76	100386777	0.997000	0.39634	1.000000	0.80357	0.942000	0.58702	1.439000	0.35013	1.413000	0.46997	-0.282000	0.10007	AGT		PASS	0.318	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		39	60	39	60	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103480073	103480073	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:103480073C>T	ENST00000370096.3	-	13	1878	c.1566G>A	c.(1564-1566)caG>caA	p.Q522Q	COL11A1_ENST00000353414.4_Silent_p.Q483Q|COL11A1_ENST00000358392.2_Silent_p.Q534Q|COL11A1_ENST00000512756.1_Silent_p.Q406Q	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	522	Telopeptide.				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)	p.Q534Q(1)|p.Q522Q(1)		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)		TTACCCGAGCCTGCTGAAGAA	0.423																																						uc001dul.2																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(1564-1566)CAG>CAA		alpha 1 type XI collagen isoform A							102.0	85.0	91.0					1																	103480073		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:103480073C>T	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.1566G>A	1.37:g.103480073C>T						COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.Q534Q|COL11A1_uc001dun.2_Silent_p.Q483Q|COL11A1_uc009weh.2_Silent_p.Q406Q	p.Q522Q	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	13	1884	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	522			Telopeptide.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.1566G>A	CCDS778.1																																																																																				PASS	0.423	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	24	11	24	---	---	---	---
PHGDH	26227	broad.mit.edu	37	1	120279815	120279815	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:120279815G>A	ENST00000369409.4	+	8	1007	c.871G>A	c.(871-873)Gct>Act	p.A291T	PHGDH_ENST00000369407.3_Missense_Mutation_p.A257T	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	291					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)	p.A291T(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		CACCAAGGAGGCTCAGAGCCG	0.597																																						uc001ehz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(871-873)GCT>ACT		phosphoglycerate dehydrogenase	NADH(DB00157)						60.0	57.0	58.0					1																	120279815		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120279815G>A	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.871G>A	1.37:g.120279815G>A	ENSP00000358417:p.Ala291Thr					PHGDH_uc009whm.2_Missense_Mutation_p.A189T|PHGDH_uc001eia.2_Missense_Mutation_p.A291T|PHGDH_uc009whn.2_Missense_Mutation_p.A291T|PHGDH_uc001eib.2_Missense_Mutation_p.A257T	p.A291T	NM_006623	NP_006614	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	8	1098	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	291					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.871G>A	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	36	5.963009	0.97151	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.87103	-2.21;-2.21	5.41	5.41	0.78517	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.91287	0.7253	L	0.59436	1.845	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.998;0.998;0.999;0.998	D	0.92057	0.5653	10	0.87932	D	0	-11.8174	17.7611	0.88465	0.0:0.0:1.0:0.0	.	163;257;257;164;291	Q9UMY2;B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;.;SERA_HUMAN	T	291;164;257	ENSP00000358417:A291T;ENSP00000358415:A257T	ENSP00000358415:A257T	A	+	1	0	PHGDH	120081338	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.426000	0.97469	2.537000	0.85549	0.561000	0.74099	GCT		PASS	0.597	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623		94	122	94	122	---	---	---	---
PPIAL4G	644591	broad.mit.edu	37	1	143767794	143767794	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:143767794G>A	ENST00000419275.1	-	1	87	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	19	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				protein folding (GO:0006457)	cytoplasm (GO:0005737)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.R19C(1)|p.R19S(1)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						ATGGAGATGCGGCCCAAGGGC	0.498																																						uc001ejt.2																			2	Substitution - Missense(2)		lung(2)		0						c.(55-57)CGC>TGC		peptidylprolyl isomerase A (cyclophilin A)-like							152.0	141.0	145.0					1																	143767794		1568	3579	5147	SO:0001583	missense	644591				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	g.chr1:143767794G>A		CCDS41375.1, CCDS41375.2	1q21.1	2010-06-03			ENSG00000236334	ENSG00000236334			33996	protein-coding gene	gene with protein product							Standard	NM_001123068		Approved		uc001ejt.3	A2BFH1	OTTHUMG00000013629	ENST00000419275.1:c.55C>T	1.37:g.143767794G>A	ENSP00000393845:p.Arg19Cys						p.R19C	NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN			1	88	-			19			PPIase cyclophilin-type.		A1L431	Missense_Mutation	SNP	ENST00000419275.1	37	c.55C>T	CCDS41375.1	.	.	.	.	.	.	.	.	.	.	.	2.773	-0.255298	0.05829	.	.	ENSG00000236334	ENST00000419275	T	0.51817	0.69	0.523	-1.05	0.10036	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (3);Cyclophilin-like (1);	0.299102	0.29438	N	0.012149	T	0.32071	0.0817	H	0.96489	3.83	0.28365	N	0.92025	B	0.24882	0.113	B	0.24701	0.055	T	0.36212	-0.9757	9	0.38643	T	0.18	.	.	.	.	.	19	A2BFH1	PAL4G_HUMAN	C	19	ENSP00000393845:R19C	ENSP00000393845:R19C	R	-	1	0	PPIAL4G	142559317	0.279000	0.24239	0.010000	0.14722	0.039000	0.13416	0.791000	0.26915	-1.260000	0.02465	-0.515000	0.04445	CGC		PASS	0.498	PPIAL4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037969.1	NM_001123068		11	662	11	662	---	---	---	---
SEC22B	9554	broad.mit.edu	37	1	145109536	145109536	+	RNA	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:145109536G>A	ENST00000453618.1	+	0	525							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ACATTATTGAGCAGGGGGTGT	0.403																																						uc001eml.1																			0					0						c.(196-198)GAG>GAA		SEC22 vesicle trafficking protein homolog B							305.0	288.0	293.0					1																	145109536		1995	4180	6175			9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109536G>A	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109536G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron	p.E66E	NM_004892	NP_004883	O75396	SC22B_HUMAN			5	338	+			66			Longin.|Cytoplasmic (Potential).		A8K1G0	Silent	SNP	ENST00000453618.1	37	c.198G>A																																																																																					PASS	0.403	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		23	756	23	756	---	---	---	---
HIST2H3D	653604	broad.mit.edu	37	1	149785213	149785213	+	Silent	SNP	G	G	A	rs370477823		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:149785213G>A	ENST00000331491.1	-	1	23	c.24C>T	c.(22-24)gcC>gcT	p.A8A	HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	8					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A8A(1)		biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						TCGACTTGCGGGCAGTCTGCT	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16824	0.0		0.0	False		,,,				2504	0.0					uc010pbl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(22-24)GCC>GCT		histone cluster 2, H3d		G		1,3113		0,1,1556	28.0	29.0	29.0		24	-4.2	0.9	1		29	0,7108		0,0,3554	no	coding-synonymous	HIST2H3D	NM_001123375.2		0,1,5110	AA,AG,GG		0.0,0.0321,0.0098		8/137	149785213	1,10221	1557	3554	5111	SO:0001819	synonymous_variant	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785213G>A	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.24C>T	1.37:g.149785213G>A						HIST2H2BF_uc010pbj.1_5'Flank|HIST2H2BF_uc010pbk.1_5'Flank|HIST2H2BF_uc001esr.2_5'Flank	p.A8A	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN			1	24	-			8					A2BDF6|A6NFS4|Q6B053	Silent	SNP	ENST00000331491.1	37	c.24C>T	CCDS41388.1																																																																																				PASS	0.602	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		26	62	26	62	---	---	---	---
FAM63A	55793	broad.mit.edu	37	1	150971905	150971905	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:150971905C>T	ENST00000361936.5	-	8	1875	c.921G>A	c.(919-921)aaG>aaA	p.K307K	FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000493834.2_Silent_p.K212K|FAM63A_ENST00000361738.6_Silent_p.K355K|FAM63A_ENST00000312210.5_Silent_p.K165K	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	307						extracellular vesicular exosome (GO:0070062)		p.K307K(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTCACCCTCCTTAGCAGCTG	0.557																																						uc001ewf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(919-921)AAG>AAA		hypothetical protein LOC55793 isoform 1							199.0	189.0	193.0					1																	150971905		2203	4300	6503	SO:0001819	synonymous_variant	55793						protein binding	g.chr1:150971905C>T	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.921G>A	1.37:g.150971905C>T						FAM63A_uc001ewc.2_Silent_p.K165K|FAM63A_uc010pcm.1_Silent_p.K212K|FAM63A_uc001ewd.2_Silent_p.K165K|FAM63A_uc001ewe.2_Silent_p.K141K|FAM63A_uc010pcn.1_Silent_p.K355K|FAM63A_uc001ewg.2_Silent_p.K307K	p.K307K	NM_018379	NP_001156731	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	2605	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		307					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Silent	SNP	ENST00000361936.5	37	c.921G>A	CCDS976.1																																																																																				PASS	0.557	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379		243	393	243	393	---	---	---	---
CRTC2	200186	broad.mit.edu	37	1	153920731	153920731	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:153920731C>G	ENST00000368633.1	-	14	2063	c.1936G>C	c.(1936-1938)Gct>Cct	p.A646P	DENND4B_ENST00000361217.4_5'Flank|CRTC2_ENST00000368630.3_Missense_Mutation_p.A326P	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	646					gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|histone H3-K9 acetylation (GO:0043970)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)	p.A646P(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCCAATCCAGCTGCTGACACC	0.597																																						uc010ped.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1936-1938)GCT>CCT		CREB regulated transcription coactivator 2							100.0	99.0	99.0					1																	153920731		2203	4300	6503	SO:0001583	missense	200186				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:153920731C>G	AY360172	CCDS30875.1	1q21.3	2008-02-05			ENSG00000160741	ENSG00000160741			27301	protein-coding gene	gene with protein product		608972				14506290, 14536081	Standard	NM_181715		Approved	TORC2	uc021pab.1	Q53ET0	OTTHUMG00000037156	ENST00000368633.1:c.1936G>C	1.37:g.153920731C>G	ENSP00000357622:p.Ala646Pro					DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.3_RNA|CRTC2_uc001fdf.3_Missense_Mutation_p.A182P	p.A646P	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		14	2006	-	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		646					Q6UUV8|Q7Z3X7|Q8N332	Missense_Mutation	SNP	ENST00000368633.1	37	c.1936G>C	CCDS30875.1	.	.	.	.	.	.	.	.	.	.	C	8.300	0.819668	0.16607	.	.	ENSG00000160741	ENST00000368630;ENST00000368633	T;T	0.45668	0.89;2.7	4.44	2.47	0.30058	Transducer of regulated CREB activity, C-terminal (1);	0.408220	0.20834	N	0.084832	T	0.15522	0.0374	N	0.19112	0.55	0.23784	N	0.996852	B;P	0.48998	0.395;0.918	B;P	0.49140	0.29;0.601	T	0.03922	-1.0992	10	0.51188	T	0.08	-0.5081	4.9422	0.13971	0.2173:0.6715:0.0:0.1112	.	646;326	Q53ET0;Q5T4K5	CRTC2_HUMAN;.	P	326;646	ENSP00000357619:A326P;ENSP00000357622:A646P	ENSP00000357619:A326P	A	-	1	0	CRTC2	152187355	0.019000	0.18553	0.440000	0.26846	0.951000	0.60555	0.132000	0.15891	0.449000	0.26747	0.462000	0.41574	GCT		PASS	0.597	CRTC2-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090272.3	NM_181715		64	356	64	356	---	---	---	---
NTRK1	4914	broad.mit.edu	37	1	156845314	156845314	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:156845314C>A	ENST00000524377.1	+	12	1398	c.1357C>A	c.(1357-1359)Ccg>Acg	p.P453T	NTRK1_ENST00000358660.3_Missense_Mutation_p.P447T|NTRK1_ENST00000392302.2_Missense_Mutation_p.P417T|NTRK1_ENST00000368196.3_Missense_Mutation_p.P447T	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	453					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|axon guidance (GO:0007411)|axonogenesis involved in innervation (GO:0060385)|B cell differentiation (GO:0030183)|cellular response to nerve growth factor stimulus (GO:1990090)|cellular response to nicotine (GO:0071316)|circadian rhythm (GO:0007623)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|developmental programmed cell death (GO:0010623)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory nerve development (GO:0021553)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of angiogenesis (GO:0045766)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|response to activity (GO:0014823)|response to axon injury (GO:0048678)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to hydrostatic pressure (GO:0051599)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|Sertoli cell development (GO:0060009)|small GTPase mediated signal transduction (GO:0007264)|sympathetic nervous system development (GO:0048485)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P453T(1)|p.P417T(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Amitriptyline(DB00321)|Imatinib(DB00619)|Regorafenib(DB08896)	CTCTCTAGGCCCGGCTGTGCT	0.637			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)																												uc001fqh.1				Dom	yes		1	1q21-q22	4914	T	"""neurotrophic tyrosine kinase, receptor, type 1"""			E	TPM3|TPR|TFG		papillary thyroid		2	Substitution - Missense(2)		lung(2)	lung(9)|ovary(6)|stomach(1)|central_nervous_system(1)	17						c.(1357-1359)CCG>ACG		neurotrophic tyrosine kinase, receptor, type 1	Imatinib(DB00619)						72.0	73.0	73.0					1																	156845314		2203	4300	6503	SO:0001583	missense	4914				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr1:156845314C>A	Y09028	CCDS1161.1, CCDS30890.1, CCDS30891.1	1q21-q22	2014-09-17			ENSG00000198400	ENSG00000198400	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8031	protein-coding gene	gene with protein product	"""high affinity nerve growth factor receptor"""	191315				2869410	Standard	NM_001007792		Approved	TRK, TRKA, MTC	uc001fqh.1	P04629	OTTHUMG00000041304	ENST00000524377.1:c.1357C>A	1.37:g.156845314C>A	ENSP00000431418:p.Pro453Thr	TSP Lung(10;0.080)				NTRK1_uc001fqf.1_Missense_Mutation_p.P417T|NTRK1_uc009wsi.1_Missense_Mutation_p.P152T|NTRK1_uc001fqi.1_Missense_Mutation_p.P447T|NTRK1_uc009wsk.1_Missense_Mutation_p.P447T	p.P453T	NM_002529	NP_002520	P04629	NTRK1_HUMAN			12	1413	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		453			Cytoplasmic (Potential).		B2R6T5|B7ZM34|P08119|Q15655|Q15656|Q5D056|Q5VZS2|Q7Z5C3|Q9UIU7	Missense_Mutation	SNP	ENST00000524377.1	37	c.1357C>A	CCDS1161.1	.	.	.	.	.	.	.	.	.	.	C	9.807	1.182012	0.21787	.	.	ENSG00000198400	ENST00000392302;ENST00000368196;ENST00000524377;ENST00000358660	T;T;T;T	0.76448	-1.0;-1.0;-1.01;-1.02	4.64	3.71	0.42584	.	0.264911	0.27113	N	0.020862	T	0.50752	0.1634	L	0.39898	1.24	0.31745	N	0.63526	B;B;B;B	0.21905	0.002;0.031;0.041;0.062	B;B;B;B	0.23574	0.004;0.047;0.037;0.036	T	0.47509	-0.9112	10	0.49607	T	0.09	.	6.8417	0.23967	0.0:0.5598:0.3474:0.0928	.	447;447;453;417	A8K3Z4;P04629-2;P04629;A6NF12	.;.;NTRK1_HUMAN;.	T	417;447;453;447	ENSP00000376120:P417T;ENSP00000357179:P447T;ENSP00000431418:P453T;ENSP00000351486:P447T	ENSP00000351486:P447T	P	+	1	0	NTRK1	155111938	0.648000	0.27313	0.541000	0.28102	0.414000	0.31173	1.114000	0.31196	1.137000	0.42214	0.462000	0.41574	CCG		PASS	0.637	NTRK1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392279.1	NM_002529		99	146	99	146	---	---	---	---
ARHGEF11	9826	broad.mit.edu	37	1	156933370	156933370	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:156933370G>A	ENST00000361409.2	-	11	1602	c.860C>T	c.(859-861)cCa>cTa	p.P287L	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.P327L	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	287					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P327L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAAAGGCTTTGGGCTTTGATC	0.423																																						uc001fqo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pleura(1)|lung(1)|kidney(1)|pancreas(1)	9						c.(859-861)CCA>CTA		Rho guanine nucleotide exchange factor (GEF) 11							81.0	93.0	89.0					1																	156933370		2203	4300	6503	SO:0001583	missense	9826				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:156933370G>A	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.860C>T	1.37:g.156933370G>A	ENSP00000354644:p.Pro287Leu					ARHGEF11_uc001fqn.2_Missense_Mutation_p.P327L	p.P287L	NM_014784	NP_055599	O15085	ARHGB_HUMAN			11	1900	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		287					D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	ENST00000361409.2	37	c.860C>T	CCDS1162.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624898	0.46840	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	T;T	0.66280	-0.2;-0.19	5.46	4.55	0.56014	.	0.419385	0.20503	N	0.091042	T	0.20981	0.0505	L	0.27053	0.805	0.80722	D	1	B;B	0.34399	0.323;0.452	B;B	0.29598	0.048;0.104	T	0.18967	-1.0320	10	0.02654	T	1	-0.1014	10.1737	0.42927	0.0771:0.1754:0.7475:0.0	.	287;327	O15085;O15085-2	ARHGB_HUMAN;.	L	327;287	ENSP00000357177:P327L;ENSP00000354644:P287L	ENSP00000354644:P287L	P	-	2	0	ARHGEF11	155199994	0.994000	0.37717	1.000000	0.80357	0.961000	0.63080	1.879000	0.39618	1.300000	0.44818	-0.150000	0.13652	CCA		PASS	0.423	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236		14	246	14	246	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167095218	167095218	+	Missense_Mutation	SNP	G	G	C	rs267598150		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:167095218G>C	ENST00000361200.2	+	6	1016	c.850G>C	c.(850-852)Gag>Cag	p.E284Q	DUSP27_ENST00000443333.1_Missense_Mutation_p.E284Q|DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Missense_Mutation_p.E284Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	284					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E284Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGAGAGAGAAGAGGACTATGG	0.617																																						uc001geb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(850-852)GAG>CAG		dual specificity phosphatase 27							57.0	59.0	58.0					1																	167095218		2203	4300	6503	SO:0001583	missense	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095218G>C	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.850G>C	1.37:g.167095218G>C	ENSP00000354483:p.Glu284Gln						p.E284Q	NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN			5	850	+			284					A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	c.850G>C	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126378	0.37533	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03386	3.95;3.95;3.95	5.45	3.45	0.39498	.	0.411080	0.20739	N	0.086571	T	0.01489	0.0048	L	0.32530	0.975	0.33367	D	0.573098	B	0.18013	0.025	B	0.12837	0.008	T	0.40590	-0.9555	10	0.46703	T	0.11	-16.3947	13.0387	0.58887	0.0697:0.1896:0.7406:0.0	.	284	Q5VZP5	DUS27_HUMAN	Q	284	ENSP00000354483:E284Q;ENSP00000271385:E284Q;ENSP00000404874:E284Q	ENSP00000271385:E284Q	E	+	1	0	DUSP27	165361842	0.990000	0.36364	0.927000	0.36925	0.700000	0.40528	1.994000	0.40757	1.288000	0.44600	0.643000	0.83706	GAG		PASS	0.617	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		23	113	23	113	---	---	---	---
TNFSF4	7292	broad.mit.edu	37	1	173155730	173155730	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:173155730G>A	ENST00000281834.3	-	3	613	c.477C>T	c.(475-477)tcC>tcT	p.S159S	TNFSF4_ENST00000367718.1_Silent_p.S109S|TNFSF4_ENST00000488053.1_5'Flank	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	159					acute inflammatory response (GO:0002526)|CD4-positive, alpha-beta T cell costimulation (GO:0035783)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nitrogen dioxide (GO:0035714)|cellular response to prostaglandin E stimulus (GO:0071380)|chemokine (C-C motif) ligand 11 production (GO:0071954)|cholesterol metabolic process (GO:0008203)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|memory T cell activation (GO:0035709)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell activation (GO:0050871)|positive regulation of CD4-positive, alpha-beta T cell costimulation (GO:1900281)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-4-dependent isotype switching to IgE isotypes (GO:2000572)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of memory T cell activation (GO:2000568)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T-helper 2 cell activation (GO:2000570)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of type 2 immune response (GO:0002830)|regulation of adaptive immune response (GO:0002819)|regulation of inflammatory response (GO:0050727)|response to nitrogen dioxide (GO:0035713)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|T-helper 2 cell activation (GO:0035712)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)|tumor necrosis factor receptor superfamily binding (GO:0032813)	p.S159S(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						AGTCATCCAGGGAGGTATTGT	0.448																																						uc001giw.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(475-477)TCC>TCT		tumor necrosis factor (ligand) superfamily,							92.0	84.0	87.0					1																	173155730		2203	4300	6503	SO:0001819	synonymous_variant	7292				acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity	g.chr1:173155730G>A	D90224	CCDS1306.1, CCDS72985.1	1q25	2008-07-31	2008-07-31		ENSG00000117586	ENSG00000117586		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11934	protein-coding gene	gene with protein product		603594	"""tax-transcriptionally activated glycoprotein 1, 34kD"""	TXGP1		1996093, 8076595	Standard	XM_005245475		Approved	OX-40L, gp34, CD252	uc001giw.3	P23510	OTTHUMG00000034838	ENST00000281834.3:c.477C>T	1.37:g.173155730G>A						TNFSF4_uc001giv.2_Silent_p.S109S	p.S159S	NM_003326	NP_003317	P23510	TNFL4_HUMAN			3	633	-			159			Extracellular (Potential).		Q5JZA5|Q8IV74|Q9HCN9	Silent	SNP	ENST00000281834.3	37	c.477C>T	CCDS1306.1																																																																																				PASS	0.448	TNFSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084271.1			23	216	23	216	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196884210	196884210	+	Intron	SNP	G	G	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:196884210G>C	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Missense_Mutation_p.Q117H|CFHR4_ENST00000367416.2_Missense_Mutation_p.Q493H|CFHR4_ENST00000367418.2_Missense_Mutation_p.Q247H|CFHR4_ENST00000251424.4_Missense_Mutation_p.Q247H			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.Q493H(1)|p.Q247H(1)		large_intestine(2)|ovary(1)|skin(3)	6						ATGAACTTCAGGGTTCTAATT	0.403																																						uc001gto.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(739-741)CAG>CAC		complement factor H-related 4 precursor							205.0	205.0	205.0					1																	196884210		2201	4298	6499	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196884210G>C	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34375G>C	1.37:g.196884210G>C						CFHR4_uc009wyy.2_Missense_Mutation_p.Q493H|CFHR4_uc001gtp.2_Missense_Mutation_p.Q494H	p.Q247H	NM_006684	NP_006675	Q92496	FHR4_HUMAN			5	810	+			247			Sushi 4.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.741G>C		.	.	.	.	.	.	.	.	.	.	G	14.49	2.551482	0.45487	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.66280	-0.2;-0.2;-0.2	2.9	-2.76	0.05896	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67306	0.2879	M	0.67625	2.065	0.09310	N	1	D;D;D	0.71674	0.994;0.998;0.998	P;D;D	0.71414	0.885;0.971;0.973	T	0.56360	-0.7992	9	0.46703	T	0.11	.	0.9465	0.01366	0.2417:0.1744:0.4066:0.1773	.	493;494;247	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	H	493;247;247;247	ENSP00000356386:Q493H;ENSP00000356388:Q247H;ENSP00000251424:Q247H	ENSP00000251424:Q247H	Q	+	3	2	CFHR4	195150833	0.111000	0.22076	0.000000	0.03702	0.533000	0.34776	0.034000	0.13776	-0.749000	0.04747	-0.694000	0.03704	CAG		PASS	0.403	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		122	251	122	251	---	---	---	---
ATF3	467	broad.mit.edu	37	1	212788511	212788511	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:212788511C>A	ENST00000341491.4	+	2	413	c.148C>A	c.(148-150)Cag>Aag	p.Q50K	RN7SL512P_ENST00000578962.1_RNA|ATF3_ENST00000366983.1_Missense_Mutation_p.Q50K|ATF3_ENST00000492118.1_Intron|ATF3_ENST00000366987.2_Missense_Mutation_p.Q50K|ATF3_ENST00000366985.1_5'UTR|ATF3_ENST00000336937.4_Missense_Mutation_p.Q21K	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3	50					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II 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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.Q50K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	GTTTGCCATCCAGAACAAGCA	0.572																																						uc001hjf.2																			2	Substitution - Missense(2)		lung(2)		0						c.(148-150)CAG>AAG		activating transcription factor 3 isoform 1							101.0	86.0	91.0					1																	212788511		2203	4300	6503	SO:0001583	missense	467					nucleolus	identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr1:212788511C>A	L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"""basic leucine zipper proteins"""	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.148C>A	1.37:g.212788511C>A	ENSP00000344352:p.Gln50Lys					ATF3_uc001hjj.2_Missense_Mutation_p.Q50K|ATF3_uc009xdg.1_RNA|ATF3_uc001hjh.2_Missense_Mutation_p.Q50K|ATF3_uc001hji.2_Missense_Mutation_p.Q50K|ATF3_uc010ptg.1_RNA	p.Q50K	NM_001030287	NP_001025458	P18847	ATF3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	2	281	+			50					Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	Missense_Mutation	SNP	ENST00000341491.4	37	c.148C>A	CCDS1506.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.551564	0.86127	.	.	ENSG00000162772	ENST00000366981;ENST00000366987;ENST00000341491;ENST00000366983;ENST00000336937	T;T;T;T;T	0.80480	0.43;0.43;0.43;-0.25;-1.38	6.06	6.06	0.98353	.	0.052267	0.85682	D	0.000000	D	0.82536	0.5058	L	0.29908	0.895	0.80722	D	1	D;D;P	0.60575	0.97;0.988;0.816	P;P;B	0.54759	0.681;0.76;0.269	D	0.83707	0.0185	10	0.87932	D	0	0.8493	20.6397	0.99537	0.0:1.0:0.0:0.0	.	50;50;50	Q7Z567;Q8WYM6;P18847	.;.;ATF3_HUMAN	K	50;50;50;50;21	ENSP00000355948:Q50K;ENSP00000355954:Q50K;ENSP00000344352:Q50K;ENSP00000355950:Q50K;ENSP00000336908:Q21K	ENSP00000336908:Q21K	Q	+	1	0	ATF3	210855134	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.587000	0.82613	2.880000	0.98712	0.650000	0.86243	CAG		PASS	0.572	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089296.1	NM_001674		5	218	5	218	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215848479	215848479	+	Silent	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:215848479T>C	ENST00000307340.3	-	63	13160	c.12774A>G	c.(12772-12774)acA>acG	p.T4258T	USH2A_ENST00000366943.2_Silent_p.T4258T	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4258	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T4258T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCTTGCAATGTCCTCACCA	0.448										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12772-12774)ACA>ACG		usherin isoform B							92.0	85.0	87.0					1																	215848479		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848479T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12774A>G	1.37:g.215848479T>C		HNSCC(13;0.011)					p.T4258T	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13161	-			4258			Extracellular (Potential).|Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.12774A>G	CCDS31025.1																																																																																				PASS	0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		48	73	48	73	---	---	---	---
URB2	9816	broad.mit.edu	37	1	229770687	229770687	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:229770687G>A	ENST00000258243.2	+	4	463	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	109						aggresome (GO:0016235)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.E109E(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GAGTAGCTGAGTTCTCTCTTT	0.413																																						uc001hts.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(325-327)GAG>GAA		URB2 ribosome biogenesis 2 homolog							49.0	48.0	48.0					1																	229770687		2203	4300	6503	SO:0001819	synonymous_variant	9816					nucleolus		g.chr1:229770687G>A	D50923	CCDS31052.1	1q42.13	2009-11-06	2008-10-01	2008-10-01	ENSG00000135763	ENSG00000135763			28967	protein-coding gene	gene with protein product	"""nucleolar preribosomal-associated protein 1"""		"""KIAA0133"""	KIAA0133		8590280	Standard	NM_014777		Approved	NPA2, NET10	uc001hts.1	Q14146	OTTHUMG00000039464	ENST00000258243.2:c.327G>A	1.37:g.229770687G>A						URB2_uc009xfd.1_Silent_p.E109E	p.E109E	NM_014777	NP_055592	Q14146	URB2_HUMAN			4	463	+			109					Q5VYC9	Silent	SNP	ENST00000258243.2	37	c.327G>A	CCDS31052.1																																																																																				PASS	0.413	URB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095232.1	NM_014777		9	121	9	121	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237936937	237936937	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:237936937G>T	ENST00000366574.2	+	87	12081	c.11764G>T	c.(11764-11766)Gag>Tag	p.E3922*	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E3906*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E3928*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3922					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.E3920*(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACTCTTACAGAGTATATTCA	0.353																																						uc001hyl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(11764-11766)GAG>TAG		cardiac muscle ryanodine receptor							82.0	78.0	79.0					1																	237936937		1845	4090	5935	SO:0001587	stop_gained	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237936937G>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11764G>T	1.37:g.237936937G>T	ENSP00000355533:p.Glu3922*					RYR2_uc010pya.1_Nonsense_Mutation_p.E337*	p.E3922*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		87	11884	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	3922					Q15411|Q546N8|Q5T3P2	Nonsense_Mutation	SNP	ENST00000366574.2	37	c.11764G>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	53	21.548227	0.99941	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	.	.	.	5.04	5.04	0.67666	.	0.000000	0.64402	U	0.000011	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.5542	18.7632	0.91862	0.0:0.0:1.0:0.0	.	.	.	.	X	3922;3928;3906;896	.	ENSP00000353174:E3928X	E	+	1	0	RYR2	236003560	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.493000	0.84123	0.579000	0.79373	GAG		PASS	0.353	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		7	18	7	18	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240371436	240371436	+	Silent	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:240371436T>C	ENST00000319653.9	+	5	3554	c.3324T>C	c.(3322-3324)ccT>ccC	p.P1108P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1108	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.P1251P(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGGGCATACCTCCTCCGCCCC	0.731																																						uc010pyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(3322-3324)CCT>CCC		formin 2							8.0	11.0	10.0					1																	240371436		2057	4147	6204	SO:0001819	synonymous_variant	56776				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	g.chr1:240371436T>C	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3324T>C	1.37:g.240371436T>C						FMN2_uc010pye.1_Silent_p.P1112P	p.P1108P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3549	+	Ovarian(103;0.127)	all_cancers(173;0.013)	1108			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.3324T>C	CCDS31069.2																																																																																				PASS	0.731	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		3	23	3	23	---	---	---	---
AHCTF1	25909	broad.mit.edu	37	1	247053361	247053361	+	Splice_Site	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:247053361T>C	ENST00000391829.2	-	17	2174	c.2051A>G	c.(2050-2052)gAt>gGt	p.D684G	AHCTF1_ENST00000326225.3_Splice_Site_p.D693G|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Splice_Site_p.D719G			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	684	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D684G(1)		NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CACAGAATCATCTAGATTTTT	0.338																																					Colon(145;197 1800 4745 15099 26333)	uc001ibu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(2050-2052)GAT>GGT		transcription factor ELYS							91.0	98.0	95.0					1																	247053361		2203	4300	6503	SO:0001630	splice_region_variant	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247053361T>C		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2051-1A>G	1.37:g.247053361T>C						AHCTF1_uc001ibv.1_Missense_Mutation_p.D693G|AHCTF1_uc009xgs.1_5'UTR	p.D684G	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		16	2058	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	684			Necessary for cytoplasmic localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.2051A>G		.	.	.	.	.	.	.	.	.	.	T	20.4	3.992204	0.74703	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.39056	1.1;1.1;1.1	5.7	5.7	0.88788	.	0.056698	0.64402	D	0.000002	T	0.65196	0.2668	M	0.73598	2.24	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.976	T	0.66662	-0.5867	10	0.48119	T	0.1	.	15.9705	0.80013	0.0:0.0:0.0:1.0	.	719;684	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	G	719;693;684	ENSP00000355464:D719G;ENSP00000355465:D693G;ENSP00000375705:D684G	ENSP00000355465:D693G	D	-	2	0	AHCTF1	245119984	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	6.436000	0.73417	2.161000	0.67846	0.482000	0.46254	GAT		PASS	0.338	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446	Missense_Mutation	26	144	26	144	---	---	---	---
TRIM58	25893	broad.mit.edu	37	1	248031301	248031301	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:248031301C>T	ENST00000366481.3	+	5	855	c.807C>T	c.(805-807)atC>atT	p.I269I	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	269						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.I269I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGAACATCCCCATGGAAC	0.532																																						uc001ido.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(805-807)ATC>ATT		tripartite motif-containing 58							103.0	94.0	97.0					1																	248031301		2203	4300	6503	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248031301C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.807C>T	1.37:g.248031301C>T						OR2W3_uc001idp.1_5'UTR	p.I269I	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		5	855	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	269					Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.807C>T	CCDS1636.1																																																																																				PASS	0.532	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		19	44	19	44	---	---	---	---
OR2M5	127059	broad.mit.edu	37	1	248308992	248308992	+	Silent	SNP	C	C	T	rs529569358	byFrequency	TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:248308992C>T	ENST00000366476.1	+	1	543	c.543C>T	c.(541-543)ttC>ttT	p.F181F		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F181F(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCTGTGACTTCCCTTCCCTAC	0.423																																						uc010pze.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|kidney(1)	3						c.(541-543)TTC>TTT		olfactory receptor, family 2, subfamily M,							299.0	281.0	287.0					1																	248308992		2203	4300	6503	SO:0001819	synonymous_variant	127059				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248308992C>T		CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.543C>T	1.37:g.248308992C>T							p.F181F	NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0388)		1	543	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		181			Extracellular (Potential).			Silent	SNP	ENST00000366476.1	37	c.543C>T	CCDS31105.1																																																																																				PASS	0.423	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097343.1	NM_001004690		95	754	95	754	---	---	---	---
OR2T12	127064	broad.mit.edu	37	1	248458744	248458744	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr1:248458744A>T	ENST00000317996.1	-	1	136	c.137T>A	c.(136-138)cTg>cAg	p.L46Q		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L46Q(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			CCAGTGAATCAGGAGAATCAT	0.527																																						uc010pzj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(136-138)CTG>CAG		olfactory receptor, family 2, subfamily T,							101.0	86.0	91.0					1																	248458744		2203	4300	6503	SO:0001583	missense	127064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248458744A>T	BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.137T>A	1.37:g.248458744A>T	ENSP00000324583:p.Leu46Gln						p.L46Q	NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0201)		1	137	-	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		46			Helical; Name=1; (Potential).			Missense_Mutation	SNP	ENST00000317996.1	37	c.137T>A	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	a	13.59	2.282907	0.40394	.	.	ENSG00000177201	ENST00000317996	T	0.03035	4.07	1.55	1.55	0.23275	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28612	U	0.014725	T	0.24160	0.0585	H	0.98089	4.145	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.11251	-1.0595	10	0.87932	D	0	.	5.5082	0.16866	0.8332:0.0:0.1668:0.0	.	46	Q8NG77	O2T12_HUMAN	Q	46	ENSP00000324583:L46Q	ENSP00000324583:L46Q	L	-	2	0	OR2T12	246525367	0.000000	0.05858	0.047000	0.18901	0.174000	0.22865	-0.270000	0.08584	0.540000	0.28808	0.147000	0.16070	CTG		PASS	0.527	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1	NM_001004692		35	238	35	238	---	---	---	---
RDH14	57665	broad.mit.edu	37	2	18736983	18736983	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:18736983C>T	ENST00000381249.3	-	2	592	c.485G>A	c.(484-486)gGa>gAa	p.G162E	NT5C1B-RDH14_ENST00000532967.1_3'UTR|RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1	Q9HBH5	RDH14_HUMAN	retinol dehydrogenase 14 (all-trans/9-cis/11-cis)	162					osteoblast differentiation (GO:0001649)	endoplasmic reticulum (GO:0005783)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.G162E(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)				Vitamin A(DB00162)	ATGGTTCACTCCGAACTGCAT	0.458																																						uc010exr.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1426-1428)GGA>GAA		5' nucleotidase, cytosolic IB isoform 2							103.0	111.0	108.0					2																	18736983		2203	4300	6503	SO:0001583	missense	93034				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr2:18736983C>T	AF237952	CCDS1693.1	2p24.2	2011-09-14	2006-05-09		ENSG00000240857	ENSG00000240857	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19979	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 4"""		"""retinol dehydrogenase 14 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_020905		Approved	PAN2, SDR7C4		Q9HBH5	OTTHUMG00000090705	ENST00000381249.3:c.485G>A	2.37:g.18736983C>T	ENSP00000370648:p.Gly162Glu					NT5C1B_uc002rcy.2_3'UTR|RDH14_uc002rcx.3_Missense_Mutation_p.G162E	p.G476E	NM_033253	NP_150278	Q96P26	5NT1B_HUMAN			9	1531	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)	Error:Variant_position_missing_in_Q96P26_after_alignment						Missense_Mutation	SNP	ENST00000381249.3	37	c.1427G>A	CCDS1693.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076756	0.76415	.	.	ENSG00000240857;ENSG00000250741	ENST00000381249;ENST00000444297	T;T	0.20332	2.08;2.08	5.45	5.45	0.79879	NAD(P)-binding domain (1);	.	.	.	.	T	0.39462	0.1079	L	0.42529	1.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.11518	-1.0584	9	0.87932	D	0	.	15.6304	0.76904	0.0:0.8626:0.1374:0.0	.	476;162	C9J2C7;Q9HBH5	.;RDH14_HUMAN	E	162;476	ENSP00000370648:G162E;ENSP00000412639:G476E	ENSP00000412639:G476E	G	-	2	0	NT5C1B-RDH14;RDH14	18600464	0.995000	0.38212	1.000000	0.80357	0.981000	0.71138	3.252000	0.51461	2.569000	0.86673	0.655000	0.94253	GGA		PASS	0.458	RDH14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207394.1			105	201	105	201	---	---	---	---
CAD	790	broad.mit.edu	37	2	27459695	27459695	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:27459695C>T	ENST00000403525.1	+	26	4348	c.4204C>T	c.(4204-4206)Ccg>Tcg	p.P1402S	CAD_ENST00000264705.4_Missense_Mutation_p.P1465S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.P1465S(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGCGACTGCCGGGTAAGTC	0.577																																						uc002rji.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(4393-4395)CCG>TCG		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						107.0	104.0	105.0					2																	27459695		2203	4300	6503	SO:0001583	missense	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27459695C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4204C>T	2.37:g.27459695C>T	ENSP00000384510:p.Pro1402Ser					CAD_uc010eyw.2_Missense_Mutation_p.P1402S	p.P1465S	NM_004341	NP_004332	P27708	PYR1_HUMAN			27	4555	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1465			DHOase (dihydroorotase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	ENST00000403525.1	37	c.4393C>T		.	.	.	.	.	.	.	.	.	.	C	37	6.014064	0.97200	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.87103	-2.21;-2.21	5.58	5.58	0.84498	Methylglyoxal synthase-like domain (1);Amidohydrolase 1 (1);	0.000000	0.85682	D	0.000000	D	0.95557	0.8556	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96414	0.9306	10	0.72032	D	0.01	0.0196	18.128	0.89592	0.0:1.0:0.0:0.0	.	1402;1465	F8VPD4;P27708	.;PYR1_HUMAN	S	1465;1402	ENSP00000264705:P1465S;ENSP00000384510:P1402S	ENSP00000264705:P1465S	P	+	1	0	CAD	27313199	1.000000	0.71417	0.577000	0.28562	0.794000	0.44872	7.112000	0.77086	2.622000	0.88805	0.561000	0.74099	CCG		PASS	0.577	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			5	401	5	401	---	---	---	---
CLEC4F	165530	broad.mit.edu	37	2	71036442	71036442	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:71036442G>A	ENST00000272367.2	-	7	1807	c.1731C>T	c.(1729-1731)ttC>ttT	p.F577F	CLEC4F_ENST00000426626.1_Intron	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	577	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.F577F(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GGGTGTCTATGAAGCTGCAAG	0.527																																					Colon(107;10 2157 6841 26035)	uc002shf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)	5						c.(1729-1731)TTC>TTT		C-type lectin, superfamily member 13							76.0	72.0	73.0					2																	71036442		2203	4300	6503	SO:0001819	synonymous_variant	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71036442G>A	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1731C>T	2.37:g.71036442G>A						CLEC4F_uc010yqv.1_Intron	p.F577F	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			7	1808	-			577			Extracellular (Potential).|C-type lectin.		A4QPA5	Silent	SNP	ENST00000272367.2	37	c.1731C>T	CCDS1910.1																																																																																				PASS	0.527	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		44	69	44	69	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79350070	79350070	+	Missense_Mutation	SNP	C	C	T	rs267599471		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:79350070C>T	ENST00000233735.1	+	5	528	c.425C>T	c.(424-426)tCa>tTa	p.S142L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	142	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)	p.S142L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						AGCCTGACCTCAAGCACAGGT	0.567																																						uc002snz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(424-426)TCA>TTA		regenerating islet-derived 1 alpha precursor							92.0	85.0	87.0					2																	79350070		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79350070C>T		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.425C>T	2.37:g.79350070C>T	ENSP00000233735:p.Ser142Leu					REG1A_uc010ysd.1_Missense_Mutation_p.S142L	p.S142L	NM_002909	NP_002900	P05451	REG1A_HUMAN			5	528	+			142			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.425C>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	12.75	2.030927	0.35797	.	.	ENSG00000115386	ENST00000233735	T	0.19669	2.13	2.93	0.893	0.19236	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.517332	0.14542	N	0.313209	T	0.28267	0.0698	L	0.60845	1.875	0.09310	N	1	D	0.69078	0.997	P	0.61800	0.894	T	0.19877	-1.0292	10	0.10902	T	0.67	.	4.6226	0.12463	0.3123:0.4828:0.2049:0.0	.	142	P05451	REG1A_HUMAN	L	142	ENSP00000233735:S142L	ENSP00000233735:S142L	S	+	2	0	REG1A	79203578	0.000000	0.05858	0.013000	0.15412	0.437000	0.31866	-0.790000	0.04604	0.048000	0.15891	0.557000	0.71058	TCA		PASS	0.567	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		50	182	50	182	---	---	---	---
STARD7	56910	broad.mit.edu	37	2	96873906	96873906	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:96873906C>A	ENST00000337288.5	-	1	650	c.267G>T	c.(265-267)agG>agT	p.R89S	AC012307.3_ENST00000446816.1_RNA	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	89						mitochondrion (GO:0005739)	lipid binding (GO:0008289)	p.R14S(1)|p.R89S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CCTCCTGGATCCTCTCCTCGT	0.687																																						uc002svm.3																			2	Substitution - Missense(2)		lung(2)		0						c.(265-267)AGG>AGT		START domain containing 7 precursor							29.0	28.0	28.0					2																	96873906		2203	4300	6503	SO:0001583	missense	56910					mitochondrion		g.chr2:96873906C>A	AF270647	CCDS2017.2	2p11.1	2011-09-12	2007-08-16		ENSG00000084090	ENSG00000084090		"""StAR-related lipid transfer (START) domain containing"""	18063	protein-coding gene	gene with protein product			"""START domain containing 7"""				Standard	NM_020151		Approved	GTT1	uc002svm.4	Q9NQZ5	OTTHUMG00000130457	ENST00000337288.5:c.267G>T	2.37:g.96873906C>A	ENSP00000338030:p.Arg89Ser					LOC285033_uc002svn.2_5'Flank|LOC285033_uc002svo.2_5'Flank	p.R89S	NM_020151	NP_064536	Q9NQZ5	STAR7_HUMAN			1	668	-			89			Potential.		D3DXG9|Q53T44|Q6GU43|Q969M6	Missense_Mutation	SNP	ENST00000337288.5	37	c.267G>T	CCDS2017.2	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332246	0.81801	.	.	ENSG00000084090	ENST00000337288	T	0.42131	0.98	4.57	1.73	0.24493	.	0.181058	0.46145	D	0.000309	T	0.38957	0.1060	L	0.47190	1.495	0.37432	D	0.914086	D	0.53151	0.958	P	0.50082	0.63	T	0.35475	-0.9787	10	0.56958	D	0.05	-21.7829	4.9873	0.14196	0.0:0.6352:0.1721:0.1927	.	89	Q9NQZ5	STAR7_HUMAN	S	89	ENSP00000338030:R89S	ENSP00000338030:R89S	R	-	3	2	STARD7	96237633	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	1.407000	0.34657	0.163000	0.19507	0.655000	0.94253	AGG		PASS	0.687	STARD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252848.2			13	44	13	44	---	---	---	---
C2orf40	84417	broad.mit.edu	37	2	106694236	106694236	+	Missense_Mutation	SNP	A	A	T	rs573510498		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:106694236A>T	ENST00000238044.3	+	4	410	c.301A>T	c.(301-303)Atc>Ttc	p.I101F	C2orf40_ENST00000409944.1_Missense_Mutation_p.I65F	NM_032411.2	NP_115787.1	Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	101					cellular senescence (GO:0090398)|cyclin catabolic process (GO:0008054)|G1 to G0 transition (GO:0070314)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)		p.I101F(1)		lung(7)|urinary_tract(1)	8						TGAAGATGACATCACCTATTG	0.423																																						uc010fjf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)ATC>TTC		esophageal cancer related gene 4 protein							131.0	124.0	126.0					2																	106694236		2203	4300	6503	SO:0001583	missense	84417					extracellular region|transport vesicle		g.chr2:106694236A>T	BC021742	CCDS2072.1	2q12.2	2014-01-28			ENSG00000119147	ENSG00000119147			24642	protein-coding gene	gene with protein product	"""esophageal cancer related gene 4 protein"""	611752				12800218	Standard	NM_032411		Approved	ECRG4, augurin	uc010fjf.3	Q9H1Z8	OTTHUMG00000130921	ENST00000238044.3:c.301A>T	2.37:g.106694236A>T	ENSP00000238044:p.Ile101Phe						p.I101F	NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN			4	409	+			101					D3DVK2	Missense_Mutation	SNP	ENST00000238044.3	37	c.301A>T	CCDS2072.1	.	.	.	.	.	.	.	.	.	.	A	9.809	1.182519	0.21870	.	.	ENSG00000119147	ENST00000409944;ENST00000238044;ENST00000437659	T;T;T	0.48201	0.82;0.82;0.82	5.4	-4.84	0.03151	.	0.539960	0.19940	N	0.102669	T	0.34077	0.0885	L	0.47716	1.5	0.09310	N	1	B	0.26258	0.145	B	0.26969	0.075	T	0.24905	-1.0147	10	0.62326	D	0.03	-13.5923	9.1635	0.37037	0.2159:0.0947:0.5959:0.0936	.	101	Q9H1Z8	AUGN_HUMAN	F	65;101;103	ENSP00000386421:I65F;ENSP00000238044:I101F;ENSP00000388664:I103F	ENSP00000238044:I101F	I	+	1	0	C2orf40	106060668	0.000000	0.05858	0.022000	0.16811	0.381000	0.30169	-1.656000	0.01980	-0.858000	0.04110	-0.899000	0.02877	ATC		PASS	0.423	C2orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253515.2	NM_032411		29	207	29	207	---	---	---	---
EPB41L5	57669	broad.mit.edu	37	2	120889225	120889225	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:120889225G>T	ENST00000263713.5	+	18	1747	c.1533G>T	c.(1531-1533)caG>caT	p.Q511H	EPB41L5_ENST00000443902.2_Missense_Mutation_p.Q511H|EPB41L5_ENST00000452780.1_Missense_Mutation_p.Q511H	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	511					actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)		p.Q511H(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AGCTCAAACAGCTTGAGATGG	0.443																																						uc002tmg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1531-1533)CAG>CAT		erythrocyte membrane protein band 4.1 like 5							95.0	93.0	93.0					2																	120889225		2203	4300	6503	SO:0001583	missense	57669					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr2:120889225G>T	AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.1533G>T	2.37:g.120889225G>T	ENSP00000263713:p.Gln511His					EPB41L5_uc010fll.2_Missense_Mutation_p.Q511H|EPB41L5_uc010flm.2_Missense_Mutation_p.Q315H	p.Q511H	NM_020909	NP_065960	Q9HCM4	E41L5_HUMAN			18	1659	+			511					Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	ENST00000263713.5	37	c.1533G>T	CCDS2130.1	.	.	.	.	.	.	.	.	.	.	G	9.210	1.030806	0.19590	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000452780	D;D;D	0.82433	-1.6;-1.61;-1.6	5.35	0.0131	0.14094	.	0.714397	0.12785	N	0.439311	T	0.59335	0.2186	N	0.04880	-0.145	0.25913	N	0.983214	B;B;B	0.10296	0.003;0.001;0.002	B;B;B	0.13407	0.009;0.003;0.003	T	0.49031	-0.8981	10	0.48119	T	0.1	.	0.8591	0.01189	0.1857:0.1611:0.3379:0.3153	.	511;511;511	Q9HCM4-3;Q9HCM4-4;Q9HCM4	.;.;E41L5_HUMAN	H	511	ENSP00000263713:Q511H;ENSP00000393856:Q511H;ENSP00000390439:Q511H	ENSP00000263713:Q511H	Q	+	3	2	EPB41L5	120605695	0.378000	0.25114	0.929000	0.37066	0.993000	0.82548	-0.644000	0.05415	0.039000	0.15632	0.644000	0.83932	CAG		PASS	0.443	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254230.2	NM_020909		14	137	14	137	---	---	---	---
POTEE	445582	broad.mit.edu	37	2	132010529	132010529	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:132010529C>T	ENST00000356920.5	+	13	1729	c.1635C>T	c.(1633-1635)caC>caT	p.H545H	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	545					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.H545Q(1)|p.H545H(1)									TGAAGAAGCACGGAAGTACTC	0.393																																						uc002tsn.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(1633-1635)CAC>CAT		protein expressed in prostate, ovary, testis,							83.0	75.0	78.0					2																	132010529		2166	4230	6396	SO:0001819	synonymous_variant	445582						ATP binding	g.chr2:132010529C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.1635C>T	2.37:g.132010529C>T						PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.H145H|POTEE_uc002tsl.2_Silent_p.H127H|POTEE_uc010fmy.1_Silent_p.H9H	p.H545H	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN			13	1687	+			545					Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	ENST00000356920.5	37	c.1635C>T	CCDS46414.1																																																																																				PASS	0.393	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		14	153	14	153	---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135884226	135884226	+	Splice_Site	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:135884226G>T	ENST00000264158.8	+	11	1016	c.973G>T	c.(973-975)Ggt>Tgt	p.G325C	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Splice_Site_p.G325C|RAB3GAP1_ENST00000539493.1_Splice_Site_p.G281C	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	325					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.G325C(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		GTGTTTGCTAGGTAAGGTATA	0.373																																						uc002tuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(973-975)GGT>TGT		RAB3 GTPase-activating protein							189.0	180.0	183.0					2																	135884226		2203	4300	6503	SO:0001630	splice_region_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135884226G>T	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.973+1G>T	2.37:g.135884226G>T						RAB3GAP1_uc010fnf.2_Missense_Mutation_p.G325C|RAB3GAP1_uc010fng.2_Missense_Mutation_p.G150C|RAB3GAP1_uc010fnh.1_RNA	p.G325C	NM_012233	NP_036365	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	11	998	+			325					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.973G>T	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571039	0.86542	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.72051	-0.62;-0.62;-0.62	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.80380	0.4612	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.998	D;P	0.62955	0.909;0.871	T	0.81104	-0.1084	10	0.62326	D	0.03	-16.7967	14.2752	0.66175	0.0707:0.0:0.9293:0.0	.	325;325	C9J837;Q15042	.;RB3GP_HUMAN	C	325;281;325	ENSP00000264158:G325C;ENSP00000444306:G281C;ENSP00000411418:G325C	ENSP00000264158:G325C	G	+	1	0	RAB3GAP1	135600696	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.496000	0.81526	2.760000	0.94817	0.655000	0.94253	GGT		PASS	0.373	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233	Missense_Mutation	85	249	85	249	---	---	---	---
CXCR4	7852	broad.mit.edu	37	2	136873271	136873271	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:136873271T>C	ENST00000241393.3	-	2	331	c.227A>G	c.(226-228)tAc>tGc	p.Y76C	CXCR4_ENST00000409817.1_Missense_Mutation_p.Y80C|CXCR4_ENST00000466288.1_5'UTR	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	76					activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)	p.Y80C(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	GTGCAGCCTGTACTTGTCCGT	0.507																																						uc002tuz.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)	3						c.(226-228)TAC>TGC		chemokine (C-X-C motif) receptor 4 isoform b	Framycetin(DB00452)						184.0	175.0	178.0					2																	136873271		2203	4300	6503	SO:0001583	missense	7852				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding	g.chr2:136873271T>C	AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.227A>G	2.37:g.136873271T>C	ENSP00000241393:p.Tyr76Cys					CXCR4_uc002tuy.2_Missense_Mutation_p.Y80C|CXCR4_uc010fnk.2_Missense_Mutation_p.Y61C	p.Y76C	NM_003467	NP_003458	P61073	CXCR4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.155)	2	322	-			76			Cytoplasmic.		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	ENST00000241393.3	37	c.227A>G	CCDS46420.1	.	.	.	.	.	.	.	.	.	.	T	18.03	3.531591	0.64972	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.75704	-0.96;-0.96	5.69	5.69	0.88448	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.87224	0.6124	M	0.82923	2.615	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.97110	0.93;1.0	D	0.89120	0.3502	10	0.87932	D	0	.	15.9544	0.79871	0.0:0.0:0.0:1.0	.	76;80	P61073;P61073-2	CXCR4_HUMAN;.	C	80;76	ENSP00000386884:Y80C;ENSP00000241393:Y76C	ENSP00000241393:Y76C	Y	-	2	0	CXCR4	136589741	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.170000	0.68504	0.533000	0.62120	TAC		PASS	0.507	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331732.1			53	255	53	255	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170002329	170002329	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:170002329C>T	ENST00000263816.3	-	70	13201	c.12916G>A	c.(12916-12918)Gag>Aag	p.E4306K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4306					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.E4306K(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AGCGTTTTCTCTTTCTTTCCT	0.393																																						uc002ues.2																			1	Substitution - Missense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(12916-12918)GAG>AAG		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						106.0	98.0	101.0					2																	170002329		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170002329C>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.12916G>A	2.37:g.170002329C>T	ENSP00000263816:p.Glu4306Lys						p.E4306K	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	70	13129	-			4306			Extracellular (Potential).		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.12916G>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	C	6.888	0.533306	0.13188	.	.	ENSG00000081479	ENST00000263816	D	0.90955	-2.76	5.38	4.51	0.55191	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.257286	0.38164	N	0.001794	D	0.84584	0.5504	L	0.35487	1.065	0.80722	D	1	P	0.44195	0.828	B	0.44085	0.44	T	0.82133	-0.0608	10	0.05721	T	0.95	.	12.8256	0.57718	0.0:0.924:0.0:0.076	.	4306	P98164	LRP2_HUMAN	K	4306	ENSP00000263816:E4306K	ENSP00000263816:E4306K	E	-	1	0	LRP2	169710575	1.000000	0.71417	0.980000	0.43619	0.402000	0.30811	3.274000	0.51631	1.415000	0.47037	0.655000	0.94253	GAG		PASS	0.393	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		28	100	28	100	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170038679	170038679	+	Nonsense_Mutation	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:170038679A>T	ENST00000263816.3	-	51	10281	c.9996T>A	c.(9994-9996)taT>taA	p.Y3332*	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3332					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.Y3332*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GACAATACCCATATTGAGGGT	0.507																																						uc002ues.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(9994-9996)TAT>TAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						162.0	147.0	152.0					2																	170038679		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170038679A>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9996T>A	2.37:g.170038679A>T	ENSP00000263816:p.Tyr3332*						p.Y3332*	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	51	10209	-			3332			Extracellular (Potential).		O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.9996T>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	A	53	21.041363	0.99936	.	.	ENSG00000081479	ENST00000263816;ENST00000536293	.	.	.	5.81	2.15	0.27550	.	0.473519	0.24265	N	0.040041	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.7819	0.08684	0.5401:0.0:0.2031:0.2568	.	.	.	.	X	3332;27	.	ENSP00000263816:Y3332X	Y	-	3	2	LRP2	169746925	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	1.499000	0.35671	0.437000	0.26423	0.533000	0.62120	TAT		PASS	0.507	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		65	172	65	172	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170127502	170127502	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:170127502G>A	ENST00000263816.3	-	16	2517	c.2232C>T	c.(2230-2232)gtC>gtT	p.V744V	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	744					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.V744V(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AATCAATCCCGACAAAGAAAG	0.418																																						uc002ues.2																			1	Substitution - coding silent(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(2230-2232)GTC>GTT		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						128.0	114.0	119.0					2																	170127502		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170127502G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2232C>T	2.37:g.170127502G>A						LRP2_uc010zdf.1_Intron	p.V744V	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	16	2445	-			744			Extracellular (Potential).		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.2232C>T	CCDS2232.1																																																																																				PASS	0.418	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		4	168	4	168	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179421741	179421741	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:179421741G>A	ENST00000591111.1	-	280	83441	c.83217C>T	c.(83215-83217)ggC>ggT	p.G27739G	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.G20440G|TTN_ENST00000460472.2_Silent_p.G20315G|TTN_ENST00000342175.6_Silent_p.G20507G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G26812G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.G29380G|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27739	Fibronectin type-III 102. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.G26812G(1)|p.G20440G(1)|p.G20315G(1)|p.G20507G(1)|p.G26810G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTCCATCTGCCATCTGGAA	0.453																																						uc010zfg.1																			5	Substitution - coding silent(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(80434-80436)GGC>GGT		titin isoform N2-A							86.0	89.0	88.0					2																	179421741		2001	4159	6160	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179421741G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.83217C>T	2.37:g.179421741G>A						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G20507G|TTN_uc010zfi.1_Silent_p.G20440G|TTN_uc010zfj.1_Silent_p.G20315G	p.G26812G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		279	80660	-			27739					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.80436C>T																																																																																					PASS	0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		23	61	23	61	---	---	---	---
ALS2	57679	broad.mit.edu	37	2	202609061	202609061	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:202609061T>A	ENST00000264276.6	-	10	2462	c.2090A>T	c.(2089-2091)gAg>gTg	p.E697V	ALS2_ENST00000457679.2_Missense_Mutation_p.E9V	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	697	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.E697V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						AGTAGCTAACTCGTGGAGACT	0.403																																						uc002uyo.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|lung(1)|breast(1)	7						c.(2089-2091)GAG>GTG		alsin isoform 1							138.0	130.0	133.0					2																	202609061		1864	4116	5980	SO:0001583	missense	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202609061T>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2090A>T	2.37:g.202609061T>A	ENSP00000264276:p.Glu697Val					ALS2_uc002uyp.3_Missense_Mutation_p.E697V|ALS2_uc002uyq.2_Missense_Mutation_p.E697V|ALS2_uc010ftl.2_RNA	p.E697V	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			10	2446	-			697			DH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	ENST00000264276.6	37	c.2090A>T	CCDS42800.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.873637	0.91664	.	.	ENSG00000003393	ENST00000264276;ENST00000457679	D;D	0.82893	-1.66;-1.66	5.95	5.95	0.96441	Dbl homology (DH) domain (4);	0.000000	0.85682	D	0.000000	D	0.87164	0.6109	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.986;1.0;0.997	D	0.88612	0.3157	10	0.87932	D	0	.	16.4237	0.83790	0.0:0.0:0.0:1.0	.	697;697;697	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	V	697;9	ENSP00000264276:E697V;ENSP00000394823:E9V	ENSP00000264276:E697V	E	-	2	0	ALS2	202317306	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.138000	0.77305	2.279000	0.76181	0.533000	0.62120	GAG		PASS	0.403	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		31	107	31	107	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215855660	215855660	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr2:215855660G>A	ENST00000272895.7	-	24	3609	c.3390C>T	c.(3388-3390)atC>atT	p.I1130I	ABCA12_ENST00000389661.4_Silent_p.I812I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1130					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.I1130I(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGAGTATAATGATGAGGATCA	0.398																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(3388-3390)ATC>ATT		ATP-binding cassette, sub-family A, member 12							107.0	108.0	107.0					2																	215855660		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215855660G>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3390C>T	2.37:g.215855660G>A						ABCA12_uc002vev.2_Silent_p.I812I|ABCA12_uc010zjn.1_Silent_p.I57I	p.I1130I	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	24	3610	-		Renal(323;0.127)	1130			Helical; (Potential).		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.3390C>T	CCDS33372.1																																																																																				PASS	0.398	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		37	143	37	143	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25686854	25686854	+	Silent	SNP	T	T	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:25686854T>G	ENST00000264331.4	-	2	176	c.177A>C	c.(175-177)acA>acC	p.T59T	TOP2B_ENST00000435706.2_Silent_p.T54T	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	59					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.T54T(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GTTCAAGTTGTGTCTTCTTCT	0.363																																						uc011awn.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|lung(1)|skin(1)	5						c.(175-177)ACA>ACC		DNA topoisomerase II, beta isozyme							207.0	190.0	195.0					3																	25686854		1862	4108	5970	SO:0001819	synonymous_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25686854T>G	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.177A>C	3.37:g.25686854T>G						TOP2B_uc003cdj.2_Silent_p.T54T	p.T59T	NM_001068	NP_001059	Q02880	TOP2B_HUMAN			2	220	-			59					Q13600|Q9UMG8|Q9UQP8	Silent	SNP	ENST00000264331.4	37	c.177A>C																																																																																					PASS	0.363	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				66	166	66	166	---	---	---	---
POMGNT2	84892	broad.mit.edu	37	3	43122452	43122452	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:43122452G>A	ENST00000344697.2	-	2	817	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	POMGNT2_ENST00000441964.1_Missense_Mutation_p.R158C	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	158			R -> H (in MDDGA8). {ECO:0000269|PubMed:22958903}.		protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)	p.R158C(1)									GGGTTGAAGCGGTTGGCGATG	0.617																																						uc003cmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(472-474)CGC>TGC		glycosyltransferase precursor							122.0	103.0	110.0					3																	43122452		2203	4300	6503	SO:0001583	missense	84892					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:43122452G>A	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.472C>T	3.37:g.43122452G>A	ENSP00000344125:p.Arg158Cys					C3orf39_uc003cmr.1_Missense_Mutation_p.R158C	p.R158C	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)	2	613	-			158					B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.472C>T	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053752	0.55218	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	T;T	0.81330	-1.48;-1.48	5.88	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.73473	0.3591	M	0.75264	2.295	0.80722	D	1	P	0.41041	0.736	B	0.29176	0.099	T	0.71826	-0.4475	10	0.48119	T	0.1	-28.7302	8.0675	0.30669	0.0734:0.0:0.5397:0.3869	.	158	Q8NAT1	AGO61_HUMAN	C	158	ENSP00000408992:R158C;ENSP00000344125:R158C	ENSP00000344125:R158C	R	-	1	0	C3orf39	43097456	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.217000	0.51184	0.816000	0.34421	0.655000	0.94253	CGC		PASS	0.617	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		7	117	7	117	---	---	---	---
LSMEM2	132228	broad.mit.edu	37	3	50324115	50324115	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:50324115G>A	ENST00000316436.3	+	3	270	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_153215.1	NP_694947.1	Q8N112	LSME2_HUMAN	leucine-rich single-pass membrane protein 2	61						integral component of membrane (GO:0016021)		p.L61L(1)									CAGGCACACTGCGCCCCTATC	0.637																																						uc003cyz.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(181-183)CTG>CTA		hypothetical protein LOC132228							75.0	70.0	72.0					3																	50324115		2203	4300	6503	SO:0001819	synonymous_variant	132228					integral to membrane		g.chr3:50324115G>A	AK095927	CCDS2814.1	3p21.31	2013-03-08	2013-03-08	2013-03-08	ENSG00000179564	ENSG00000179564			26781	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 45"""	C3orf45			Standard	NM_153215		Approved	FLJ38608	uc003cyz.3	Q8N112	OTTHUMG00000156938	ENST00000316436.3:c.183G>A	3.37:g.50324115G>A							p.L61L	NM_153215	NP_694947	Q8N112	CC045_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	3	210	+			61						Silent	SNP	ENST00000316436.3	37	c.183G>A	CCDS2814.1																																																																																				PASS	0.637	LSMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346671.1	NM_153215		12	60	12	60	---	---	---	---
ROBO1	6091	broad.mit.edu	37	3	78796020	78796020	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:78796020G>T	ENST00000464233.1	-	5	643	c.530C>A	c.(529-531)tCg>tAg	p.S177*	ROBO1_ENST00000467549.1_Nonsense_Mutation_p.S138*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.S138*|ROBO1_ENST00000436010.2_Nonsense_Mutation_p.S138*	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	177	Ig-like C2-type 2.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.S177*(2)|p.S177L(1)|p.S138*(1)|p.S154*(1)|p.S154L(1)|p.S138L(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		CATGACATCCGAAGGGTTTTG	0.458																																						uc003dqe.2																			7	Substitution - Nonsense(4)|Substitution - Missense(3)		lung(4)|large_intestine(3)	large_intestine(2)	2						c.(529-531)TCG>TAG		roundabout 1 isoform a							103.0	100.0	101.0					3																	78796020		1914	4136	6050	SO:0001587	stop_gained	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78796020G>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.530C>A	3.37:g.78796020G>T	ENSP00000420321:p.Ser177*					ROBO1_uc003dqb.2_Nonsense_Mutation_p.S138*|ROBO1_uc003dqc.2_Nonsense_Mutation_p.S138*|ROBO1_uc003dqd.2_Nonsense_Mutation_p.S138*	p.S177*	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	5	738	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	177			Extracellular (Potential).|Ig-like C2-type 2.		B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Nonsense_Mutation	SNP	ENST00000464233.1	37	c.530C>A	CCDS54611.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693101	0.88735	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	.	.	.	5.83	5.83	0.93111	.	0.163360	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1133	0.97917	0.0:0.0:1.0:0.0	.	.	.	.	X	138;138;177;138;138;177	.	.	S	-	2	0	ROBO1	78878710	1.000000	0.71417	0.998000	0.56505	0.179000	0.23085	6.669000	0.74462	2.762000	0.94881	0.591000	0.81541	TCG		PASS	0.458	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		3	47	3	47	---	---	---	---
ARL6	84100	broad.mit.edu	37	3	97499500	97499500	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:97499500A>G	ENST00000463745.1	+	4	704	c.227A>G	c.(226-228)tAc>tGc	p.Y76C	ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.Y76C|ARL6_ENST00000394206.1_Missense_Mutation_p.Y76C	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	76					cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|fat cell differentiation (GO:0045444)|melanosome transport (GO:0032402)|protein polymerization (GO:0051258)|protein targeting to membrane (GO:0006612)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)|Wnt signaling pathway (GO:0016055)	axonemal microtubule (GO:0005879)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane coat (GO:0030117)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)	p.Y76C(1)		large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		CAAGGAAGATACAGAAATCTC	0.284																																						uc003drv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(226-228)TAC>TGC		ADP-ribosylation factor-like 6							142.0	149.0	147.0					3																	97499500		2203	4294	6497	SO:0001583	missense	84100	Bardet-Biedl_syndrome			cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding	g.chr3:97499500A>G	BC024239	CCDS2928.1	3q11.2	2014-05-09			ENSG00000113966	ENSG00000113966		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	13210	protein-coding gene	gene with protein product		608845		BBS3		15258860, 15314642, 21282186	Standard	NM_032146		Approved	RP55	uc003drv.3	Q9H0F7	OTTHUMG00000159189	ENST00000463745.1:c.227A>G	3.37:g.97499500A>G	ENSP00000419619:p.Tyr76Cys					ARL6_uc003drw.2_RNA|ARL6_uc003dru.2_Missense_Mutation_p.Y76C|ARL6_uc010hoy.2_Missense_Mutation_p.Y76C	p.Y76C	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)	5	540	+		Lung NSC(201;0.0193)|Prostate(884;0.174)	76					A8KA93|D3DN31	Missense_Mutation	SNP	ENST00000463745.1	37	c.227A>G	CCDS2928.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.314859	0.81358	.	.	ENSG00000113966	ENST00000463745;ENST00000462412;ENST00000335979;ENST00000394206	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.55	5.55	0.83447	Small GTP-binding protein domain (1);	0.110984	0.64402	D	0.000005	T	0.80834	0.4699	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83929	0.0305	10	0.87932	D	0	.	15.6581	0.77158	1.0:0.0:0.0:0.0	.	76	Q9H0F7	ARL6_HUMAN	C	76	ENSP00000419619:Y76C;ENSP00000418740:Y76C;ENSP00000337722:Y76C;ENSP00000377756:Y76C	ENSP00000337722:Y76C	Y	+	2	0	ARL6	98982190	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.667000	0.91153	2.237000	0.73441	0.519000	0.50382	TAC		PASS	0.284	ARL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353756.1	NM_032146		83	135	83	135	---	---	---	---
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378																																						uc011bgu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(334-336)TGT>TGC		olfactory receptor, family 5, subfamily H,							119.0	117.0	117.0					3																	97887879		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887879T>C		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.336T>C	3.37:g.97887879T>C							p.C112C	NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN			1	336	+			112			Helical; Name=3; (Potential).			Silent	SNP	ENST00000356526.2	37	c.336T>C	CCDS33799.1																																																																																				PASS	0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			4	247	4	247	---	---	---	---
TRAT1	50852	broad.mit.edu	37	3	108549571	108549571	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:108549571C>G	ENST00000295756.6	+	2	292	c.62C>G	c.(61-63)gCt>gGt	p.A21G	TRAT1_ENST00000426646.1_Intron|TRAT1_ENST00000493604.1_3'UTR	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	21					cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of receptor recycling (GO:0001920)|negative regulation of transport (GO:0051051)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of T cell receptor signaling pathway (GO:0050862)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.A21G(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TTGGGCTTGGCTTTGGTTATA	0.398																																						uc003dxi.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(61-63)GCT>GGT		T-cell receptor interacting molecule							192.0	188.0	189.0					3																	108549571		2203	4300	6503	SO:0001583	missense	50852				cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr3:108549571C>G	AJ240084	CCDS33813.1	3q13	2005-05-04	2005-05-04	2005-05-04	ENSG00000163519	ENSG00000163519			30698	protein-coding gene	gene with protein product		604962	"""T cell receptor interacting molecule"""	TCRIM		10663578, 9687533	Standard	NM_016388		Approved	HSPC062, TRIM	uc003dxi.1	Q6PIZ9	OTTHUMG00000159198	ENST00000295756.6:c.62C>G	3.37:g.108549571C>G	ENSP00000295756:p.Ala21Gly					TRAT1_uc010hpx.1_Intron	p.A21G	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN			2	206	+			21			Helical; Signal-anchor for type III membrane protein; (Potential).		Q9NZX5	Missense_Mutation	SNP	ENST00000295756.6	37	c.62C>G	CCDS33813.1	.	.	.	.	.	.	.	.	.	.	C	14.48	2.548096	0.45383	.	.	ENSG00000163519	ENST00000295756	T	0.35973	1.28	5.26	4.35	0.52113	.	0.000000	0.64402	D	0.000009	T	0.48714	0.1515	M	0.69823	2.125	0.80722	D	1	D	0.56035	0.974	P	0.54431	0.752	T	0.41645	-0.9497	10	0.39692	T	0.17	-22.3414	11.9583	0.52995	0.0:0.8263:0.1737:0.0	.	21	Q6PIZ9	TRAT1_HUMAN	G	21	ENSP00000295756:A21G	ENSP00000295756:A21G	A	+	2	0	TRAT1	110032261	1.000000	0.71417	0.969000	0.41365	0.215000	0.24574	1.119000	0.31258	2.732000	0.93576	0.591000	0.81541	GCT		PASS	0.398	TRAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353794.1	NM_016388		111	251	111	251	---	---	---	---
C3orf30	152405	broad.mit.edu	37	3	118865136	118865136	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:118865136G>T	ENST00000295622.1	+	1	140	c.100G>T	c.(100-102)Gac>Tac	p.D34Y	IGSF11_ENST00000425327.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000441144.2_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	34								p.D34Y(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GGAAGAAGACGACCAGAAGAA	0.552																																						uc003ecb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(100-102)GAC>TAC		hypothetical protein LOC152405							86.0	60.0	68.0					3																	118865136		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865136G>T	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.100G>T	3.37:g.118865136G>T	ENSP00000295622:p.Asp34Tyr					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.D34Y	p.D34Y	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	140	+			34					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.100G>T	CCDS2984.1	.	.	.	.	.	.	.	.	.	.	G	7.528	0.658016	0.14645	.	.	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.22134	1.97	4.04	-3.31	0.04988	.	3.091900	0.01064	N	0.004682	T	0.15565	0.0375	N	0.19112	0.55	0.09310	N	1	P;P	0.44195	0.828;0.828	B;B	0.43274	0.414;0.414	T	0.19679	-1.0298	10	0.54805	T	0.06	-1.1881	6.0818	0.19944	0.4493:0.142:0.4087:0.0	.	34;34	E9PFE5;Q96M34	.;CC030_HUMAN	Y	34	ENSP00000295622:D34Y	ENSP00000295622:D34Y	D	+	1	0	C3orf30	120347826	0.001000	0.12720	0.001000	0.08648	0.144000	0.21451	0.637000	0.24659	-0.604000	0.05760	-0.886000	0.02939	GAC		PASS	0.552	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		32	68	32	68	---	---	---	---
RABL3	285282	broad.mit.edu	37	3	120461339	120461339	+	Silent	SNP	G	G	T	rs376736040		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:120461339G>T	ENST00000273375.3	-	1	45	c.16C>A	c.(16-18)Cgg>Agg	p.R6R	GTF2E1_ENST00000283875.5_5'Flank|RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Silent_p.R6R	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	6	Small GTPase-like.				small GTPase mediated signal transduction (GO:0007264)		GTP binding (GO:0005525)	p.R6R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		ACCTTCACCCGATCCAGGGAC	0.552																																						uc003edx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(16-18)CGG>AGG		RAB, member of RAS oncogene family-like 3							134.0	105.0	115.0					3																	120461339		2203	4300	6503	SO:0001819	synonymous_variant	285282				small GTPase mediated signal transduction		GTP binding	g.chr3:120461339G>T	BC020832	CCDS3001.1	3q13.33	2008-02-05			ENSG00000144840	ENSG00000144840			18072	protein-coding gene	gene with protein product						12477932	Standard	NM_173825		Approved	MGC23920	uc003edx.3	Q5HYI8	OTTHUMG00000159668	ENST00000273375.3:c.16C>A	3.37:g.120461339G>T						GTF2E1_uc003edy.2_5'Flank|GTF2E1_uc003edz.3_5'Flank	p.R6R	NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN		GBM - Glioblastoma multiforme(114;0.151)	1	46	-			6			Small GTPase-like.		Q8WUD3	Silent	SNP	ENST00000273375.3	37	c.16C>A	CCDS3001.1																																																																																				PASS	0.552	RABL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356776.1	NM_173825		22	155	22	155	---	---	---	---
ABTB1	80325	broad.mit.edu	37	3	127398972	127398972	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:127398972C>T	ENST00000232744.8	+	11	1260	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	ABTB1_ENST00000393363.3_Missense_Mutation_p.R250C|ABTB1_ENST00000468137.1_Missense_Mutation_p.R250C|ABTB1_ENST00000453791.2_Missense_Mutation_p.R250C					ankyrin repeat and BTB (POZ) domain containing 1									p.R392C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CAAGCTCTTCCGCCTGGCGCG	0.642																																						uc003ejt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1174-1176)CGC>TGC		ankyrin repeat and BTB (POZ) domain containing 1							129.0	129.0	129.0					3																	127398972		2202	4300	6502	SO:0001583	missense	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127398972C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1174C>T	3.37:g.127398972C>T	ENSP00000232744:p.Arg392Cys					ABTB1_uc003ejr.2_Missense_Mutation_p.R250C|ABTB1_uc003ejs.2_Missense_Mutation_p.R367C|ABTB1_uc003eju.2_Missense_Mutation_p.R250C|ABTB1_uc010hsm.2_Missense_Mutation_p.R119C	p.R392C	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN			11	1262	+			392						Missense_Mutation	SNP	ENST00000232744.8	37	c.1174C>T	CCDS3045.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688301	0.48097	.	.	ENSG00000114626	ENST00000361019;ENST00000393363;ENST00000232744;ENST00000453791;ENST00000468137	T;T;T;T	0.63913	-0.07;0.14;-0.07;-0.07	4.95	3.15	0.36227	.	0.400034	0.26773	N	0.022574	T	0.56863	0.2014	M	0.65677	2.01	0.49389	D	0.999784	B;B;B	0.25486	0.127;0.001;0.009	B;B;B	0.14023	0.01;0.0;0.006	T	0.55270	-0.8167	10	0.62326	D	0.03	-11.3375	9.9734	0.41768	0.0:0.7776:0.1458:0.0765	.	228;392;367	C9JBQ0;Q969K4;Q969K4-3	.;ABTB1_HUMAN;.	C	228;250;392;250;250	ENSP00000377030:R250C;ENSP00000232744:R392C;ENSP00000412684:R250C;ENSP00000417366:R250C	ENSP00000232744:R392C	R	+	1	0	ABTB1	128881662	1.000000	0.71417	0.994000	0.49952	0.908000	0.53690	2.041000	0.41213	0.492000	0.27815	0.467000	0.42956	CGC		PASS	0.642	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		97	401	97	401	---	---	---	---
PPP2R3A	5523	broad.mit.edu	37	3	135721425	135721425	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:135721425A>G	ENST00000264977.3	+	2	1702	c.1085A>G	c.(1084-1086)aAg>aGg	p.K362R	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	362					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)	p.K362R(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AATTCTAGGAAGATGGACACT	0.388																																						uc003eqv.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(1084-1086)AAG>AGG		protein phosphatase 2, regulatory subunit B'',							75.0	74.0	74.0					3																	135721425		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721425A>G	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.1085A>G	3.37:g.135721425A>G	ENSP00000264977:p.Lys362Arg					PPP2R3A_uc011blz.1_Intron	p.K362R	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	1650	+			362					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.1085A>G	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	A	4.394	0.072831	0.08436	.	.	ENSG00000073711	ENST00000264977	T	0.06218	3.33	5.34	2.83	0.33086	.	0.784499	0.12114	N	0.498265	T	0.05364	0.0142	L	0.38531	1.155	0.25046	N	0.991166	B	0.24823	0.112	B	0.16722	0.016	T	0.40040	-0.9584	10	0.24483	T	0.36	.	7.0385	0.25006	0.7732:0.1488:0.078:0.0	.	362	Q06190	P2R3A_HUMAN	R	362	ENSP00000264977:K362R	ENSP00000264977:K362R	K	+	2	0	PPP2R3A	137204115	0.920000	0.31207	0.915000	0.36163	0.432000	0.31715	2.163000	0.42377	0.871000	0.35750	0.533000	0.62120	AAG		PASS	0.388	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		3	146	3	146	---	---	---	---
AGTR1	185	broad.mit.edu	37	3	148459391	148459391	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:148459391C>A	ENST00000497524.1	+	2	960	c.569C>A	c.(568-570)aCc>aAc	p.T190N	AGTR1_ENST00000418473.2_Missense_Mutation_p.T190N|AGTR1_ENST00000474935.1_Missense_Mutation_p.T190N|AGTR1_ENST00000404754.2_Missense_Mutation_p.T190N|AGTR1_ENST00000475347.1_Missense_Mutation_p.T190N|AGTR1_ENST00000402260.1_Missense_Mutation_p.T190N|AGTR1_ENST00000461609.1_Missense_Mutation_p.T190N|AGTR1_ENST00000349243.3_Missense_Mutation_p.T190N|AGTR1_ENST00000542281.1_Missense_Mutation_p.T190N	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	190					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)	p.T190N(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CAAAATTCAACCCTCCCGATA	0.403																																						uc003ewg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(568-570)ACC>AAC		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						66.0	72.0	70.0					3																	148459391		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459391C>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.569C>A	3.37:g.148459391C>A	ENSP00000419422:p.Thr190Asn					AGTR1_uc003ewh.2_Missense_Mutation_p.T190N|AGTR1_uc003ewi.2_Missense_Mutation_p.T190N|AGTR1_uc003ewj.2_Missense_Mutation_p.T190N|AGTR1_uc003ewk.2_Missense_Mutation_p.T190N	p.T190N	NM_031850	NP_114038	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	1015	+			190			Extracellular (Potential).		Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.569C>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	2.245	-0.372894	0.05034	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.48	5.48	0.80851	GPCR, rhodopsin-like superfamily (1);	0.469690	0.22625	N	0.057656	T	0.19525	0.0469	N	0.11000	0.08	0.09310	N	0.999997	B	0.15141	0.012	B	0.25759	0.063	T	0.17776	-1.0358	10	0.19147	T	0.46	-21.7487	8.6794	0.34198	0.1516:0.7732:0.0:0.0752	.	190	P30556	AGTR1_HUMAN	N	190	ENSP00000419422:T190N;ENSP00000273430:T190N;ENSP00000443186:T190N;ENSP00000398832:T190N;ENSP00000385612:T190N;ENSP00000419783:T190N;ENSP00000418084:T190N;ENSP00000418851:T190N;ENSP00000385641:T190N	ENSP00000273430:T190N	T	+	2	0	AGTR1	149942081	0.009000	0.17119	1.000000	0.80357	0.759000	0.43091	1.376000	0.34306	2.572000	0.86782	0.655000	0.94253	ACC		PASS	0.403	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			14	173	14	173	---	---	---	---
CLRN1	7401	broad.mit.edu	37	3	150659451	150659451	+	Silent	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:150659451G>T	ENST00000327047.1	-	2	641	c.351C>A	c.(349-351)gcC>gcA	p.A117A	RP11-166N6.2_ENST00000469268.1_RNA|CLRN1_ENST00000328863.4_Silent_p.A117A|CLRN1-AS1_ENST00000476886.1_RNA|RP11-166N6.3_ENST00000569170.1_Missense_Mutation_p.P27H|CLRN1_ENST00000295911.2_Silent_p.A41A	NM_174878.2	NP_777367.1	P58418	CLRN1_HUMAN	clarin 1	117					actin filament organization (GO:0007015)|auditory receptor cell stereocilium organization (GO:0060088)|cell motility (GO:0048870)|equilibrioception (GO:0050957)|photoreceptor cell maintenance (GO:0045494)|positive regulation of lamellipodium assembly (GO:0010592)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|plasma membrane (GO:0005886)		p.A117A(1)|p.A41A(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			ACATGAAGAAGGCTGTCCCCA	0.428																																						uc003eyk.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(349-351)GCC>GCA		clarin 1 isoform a							125.0	115.0	118.0					3																	150659451		2203	4300	6503	SO:0001819	synonymous_variant	7401				equilibrioception|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	integral to membrane		g.chr3:150659451G>T	AF388366	CCDS3153.1, CCDS35492.1, CCDS56285.1	3q25.1	2014-09-17	2006-11-23	2006-11-23	ENSG00000163646	ENSG00000163646			12605	protein-coding gene	gene with protein product		606397	"""Usher syndrome 3A"""	USH3, USH3A, RP61		7711740, 8975700	Standard	NM_052995		Approved		uc021xfr.1	P58418	OTTHUMG00000140368	ENST00000327047.1:c.351C>A	3.37:g.150659451G>T						CLRN1OS_uc011bny.1_Intron|CLRN1_uc003eyj.2_Silent_p.A41A|CLRN1_uc010hvj.1_RNA	p.A117A	NM_174878	NP_777367	P58418	CLRN1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		2	642	-			117			Helical; (Potential).		D3DNJ3|E1ACU9|Q8N6A9	Silent	SNP	ENST00000327047.1	37	c.351C>A	CCDS3153.1																																																																																				PASS	0.428	CLRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277060.1			34	103	34	103	---	---	---	---
ARHGEF26	26084	broad.mit.edu	37	3	153870648	153870648	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:153870648A>T	ENST00000356448.4	+	6	1698	c.1414A>T	c.(1414-1416)Agt>Tgt	p.S472C	ARHGEF26_ENST00000465093.1_Missense_Mutation_p.S472C|ARHGEF26_ENST00000465817.1_Intron	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	472	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S472C(3)		endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						TAAAGAACTGAGTGATACAAT	0.383																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(1)	1						c.(1414-1416)AGT>TGT		Src homology 3 domain-containing guanine							68.0	60.0	62.0					3																	153870648		1858	4084	5942	SO:0001583	missense	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153870648A>T	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1414A>T	3.37:g.153870648A>T	ENSP00000348828:p.Ser472Cys					SGEF_uc011boh.1_Missense_Mutation_p.S472C	p.S472C	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		6	1625	+			472			DH.		B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Missense_Mutation	SNP	ENST00000356448.4	37	c.1414A>T	CCDS46938.1	.	.	.	.	.	.	.	.	.	.	A	18.39	3.613249	0.66672	.	.	ENSG00000114790	ENST00000356448;ENST00000465093	T;T	0.64618	-0.11;-0.11	5.67	4.52	0.55395	Dbl homology (DH) domain (5);	0.136762	0.64402	D	0.000004	T	0.59321	0.2185	L	0.39020	1.185	0.80722	D	1	D;D	0.61697	0.978;0.99	P;P	0.51415	0.669;0.65	T	0.60167	-0.7316	10	0.56958	D	0.05	-12.8756	9.444	0.38686	0.8577:0.0:0.1423:0.0	.	472;472	E9PBD0;Q96DR7	.;ARHGQ_HUMAN	C	472	ENSP00000348828:S472C;ENSP00000423418:S472C	ENSP00000348828:S472C	S	+	1	0	ARHGEF26	155353338	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	3.795000	0.55499	0.983000	0.38602	0.455000	0.32223	AGT		PASS	0.383	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3	NM_015595		6	17	6	17	---	---	---	---
NCEH1	57552	broad.mit.edu	37	3	172351674	172351674	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:172351674G>A	ENST00000475381.1	-	5	1051	c.818C>T	c.(817-819)tCa>tTa	p.S273L	NCEH1_ENST00000543711.1_Missense_Mutation_p.S140L|NCEH1_ENST00000538775.1_Missense_Mutation_p.S313L|NCEH1_ENST00000273512.3_Missense_Mutation_p.S305L			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	273					lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)	p.S305L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CACATCAAGTGAAGTGTGATT	0.493																																						uc011bpx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(937-939)TCA>TTA		arylacetamide deacetylase-like 1 isoform a							104.0	100.0	102.0					3																	172351674		2203	4300	6503	SO:0001583	missense	57552				lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity	g.chr3:172351674G>A	AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.818C>T	3.37:g.172351674G>A	ENSP00000418571:p.Ser273Leu					NCEH1_uc003fig.2_Missense_Mutation_p.S305L|NCEH1_uc011bpw.1_Missense_Mutation_p.S140L|NCEH1_uc011bpy.1_Missense_Mutation_p.S140L	p.S313L	NM_001146276	NP_001139748	Q6PIU2	NCEH1_HUMAN			5	1076	-			273			Lumenal (Potential).		B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	ENST00000475381.1	37	c.938C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.64|12.64	1.998216|1.998216	0.35226|0.35226	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000475381;ENST00000538775;ENST00000273512;ENST00000543711	.|T;T;T;T	.|0.59638	.|0.25;0.25;0.25;0.25	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.212522	.|0.41194	.|D	.|0.000924	T|T	0.60715|0.60715	0.2290|0.2290	L|L	0.56280|0.56280	1.765|1.765	0.09310|0.09310	N|N	0.999999|0.999999	.|P;P	.|0.48294	.|0.908;0.811	.|B;B	.|0.43916	.|0.436;0.433	T|T	0.60989|0.60989	-0.7153|-0.7153	5|10	.|0.87932	.|D	.|0	-9.5827|-9.5827	19.8351|19.8351	0.96655|0.96655	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|313;273	.|F5H7K4;Q6PIU2	.|.;NCEH1_HUMAN	Y|L	304|273;313;305;140	.|ENSP00000418571:S273L;ENSP00000442464:S313L;ENSP00000273512:S305L;ENSP00000443227:S140L	.|ENSP00000273512:S305L	H|S	-|-	1|2	0|0	NCEH1|NCEH1	173834368|173834368	0.855000|0.855000	0.29742|0.29742	0.173000|0.173000	0.22940|0.22940	0.003000|0.003000	0.03518|0.03518	4.355000|4.355000	0.59424|0.59424	2.683000|2.683000	0.91414|0.91414	0.591000|0.591000	0.81541|0.81541	CAC|TCA		PASS	0.493	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346367.3	NM_020792		16	306	16	306	---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186457173	186457173	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr3:186457173C>T	ENST00000265023.4	+	9	1307	c.1095C>T	c.(1093-1095)taC>taT	p.Y365Y	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Silent_p.Y329Y|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Silent_p.Y365Y	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	365	Cystatin kininogen-type 3. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.Y365Y(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		AAAAAATTTACCCTACTGTCA	0.423																																						uc011bsa.1																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(1093-1095)TAC>TAT		kininogen 1 isoform 1	Ouabain(DB01092)						107.0	101.0	103.0					3																	186457173		2203	4300	6503	SO:0001819	synonymous_variant	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186457173C>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.1095C>T	3.37:g.186457173C>T						KNG1_uc003fqr.2_Silent_p.Y365Y	p.Y365Y	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	9	1307	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		365			Cystatin 3.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Silent	SNP	ENST00000265023.4	37	c.1095C>T	CCDS43183.1																																																																																				PASS	0.423	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		105	293	105	293	---	---	---	---
GRK4	2868	broad.mit.edu	37	4	3029676	3029676	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr4:3029676G>A	ENST00000398052.4	+	11	1351	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	GRK4_ENST00000398051.4_Silent_p.E304E|GRK4_ENST00000504933.1_Silent_p.E336E|GRK4_ENST00000345167.6_Silent_p.E304E|GRK4_ENST00000509545.1_3'UTR	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	336	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.E336E(1)		lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGGCCACAGAGATCCCAGAAG	0.507																																						uc003ggn.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(1006-1008)GAG>GAA		G protein-coupled receptor kinase 4 isoform							154.0	151.0	152.0					4																	3029676		2203	4300	6503	SO:0001819	synonymous_variant	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3029676G>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.1008G>A	4.37:g.3029676G>A						GRK4_uc003ggo.1_Silent_p.E336E|GRK4_uc003ggp.1_Silent_p.E304E|GRK4_uc003ggq.1_Silent_p.E304E	p.E336E	NM_182982	NP_892027	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	11	1463	+			336			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Silent	SNP	ENST00000398052.4	37	c.1008G>A	CCDS33946.1																																																																																				PASS	0.507	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		75	155	75	155	---	---	---	---
STK32B	55351	broad.mit.edu	37	4	5468481	5468481	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr4:5468481G>C	ENST00000282908.5	+	10	1383	c.961G>C	c.(961-963)Gaa>Caa	p.E321Q	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Missense_Mutation_p.E244Q|STK32B_ENST00000510398.1_Missense_Mutation_p.E274Q	NM_018401.1	NP_060871.1			serine/threonine kinase 32B									p.E321Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GATGATTCTAGAATCCAAGCC	0.493																																						uc003gih.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(961-963)GAA>CAA		serine/threonine kinase 32B							76.0	71.0	73.0					4																	5468481		2203	4300	6503	SO:0001583	missense	55351						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr4:5468481G>C	AJ250839	CCDS3380.1	4p16	2009-09-30			ENSG00000152953	ENSG00000152953			14217	protein-coding gene	gene with protein product						10700184	Standard	XM_005247982		Approved	STKG6, YANK2, STK32, HSA250839	uc003gih.1	Q9NY57	OTTHUMG00000090423	ENST00000282908.5:c.961G>C	4.37:g.5468481G>C	ENSP00000282908:p.Glu321Gln					STK32B_uc010ida.1_Missense_Mutation_p.E274Q	p.E321Q	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN			10	1025	+			321						Missense_Mutation	SNP	ENST00000282908.5	37	c.961G>C	CCDS3380.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.933759	0.73442	.	.	ENSG00000152953	ENST00000282908;ENST00000512636;ENST00000510398	T;T;T	0.24538	1.85;1.85;1.85	4.95	4.95	0.65309	.	0.000000	0.41938	U	0.000790	T	0.57388	0.2050	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65195	-0.6227	10	0.59425	D	0.04	.	16.7679	0.85528	0.0:0.0:1.0:0.0	.	321	Q9NY57	ST32B_HUMAN	Q	321;244;274	ENSP00000282908:E321Q;ENSP00000423209:E244Q;ENSP00000420984:E274Q	ENSP00000282908:E321Q	E	+	1	0	STK32B	5519382	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	8.310000	0.89971	2.295000	0.77249	0.579000	0.79373	GAA		PASS	0.493	STK32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206854.4	NM_018401		31	63	31	63	---	---	---	---
ARAP2	116984	broad.mit.edu	37	4	36126522	36126522	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr4:36126522G>C	ENST00000303965.4	-	22	4197	c.3708C>G	c.(3706-3708)aaC>aaG	p.N1236K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1236	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)	p.N1236K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTGTTGCTCGGTTGACCCCTG	0.373																																						uc003gsq.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3706-3708)AAC>AAG		ArfGAP with RhoGAP domain, ankyrin repeat and PH							176.0	175.0	175.0					4																	36126522		2203	4300	6503	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36126522G>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3708C>G	4.37:g.36126522G>C	ENSP00000302895:p.Asn1236Lys						p.N1236K	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			22	4046	-			1236			Rho-GAP.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.3708C>G	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767689	0.69878	.	.	ENSG00000047365	ENST00000303965	T	0.30448	1.53	5.24	3.45	0.39498	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.051665	0.85682	D	0.000000	T	0.49558	0.1564	M	0.92026	3.265	0.43444	D	0.995621	P	0.51147	0.942	P	0.52159	0.691	T	0.52609	-0.8553	10	0.87932	D	0	.	6.5812	0.22596	0.4414:0.0:0.5586:0.0	.	1236	Q8WZ64	ARAP2_HUMAN	K	1236	ENSP00000302895:N1236K	ENSP00000302895:N1236K	N	-	3	2	ARAP2	35802917	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.050000	0.49877	0.547000	0.28938	0.585000	0.79938	AAC		PASS	0.373	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230		22	49	22	49	---	---	---	---
GABRA2	2555	broad.mit.edu	37	4	46307591	46307591	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr4:46307591T>A	ENST00000510861.1	-	7	870	c.697A>T	c.(697-699)Agt>Tgt	p.S233C	GABRA2_ENST00000356504.1_Missense_Mutation_p.S233C|GABRA2_ENST00000507069.1_Missense_Mutation_p.S233C|GABRA2_ENST00000381620.4_Missense_Mutation_p.S233C|GABRA2_ENST00000514090.1_Missense_Mutation_p.S233C|GABRA2_ENST00000540012.1_Missense_Mutation_p.S178C|GABRA2_ENST00000515082.1_Missense_Mutation_p.S233C			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	233					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.S233C(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TAACCTGTACTGGATTTAATT	0.368																																						uc003gxc.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(697-699)AGT>TGT		gamma-aminobutyric acid A receptor, alpha 2	Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						95.0	100.0	99.0					4																	46307591		2203	4300	6503	SO:0001583	missense	2555				gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46307591T>A		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.697A>T	4.37:g.46307591T>A	ENSP00000421828:p.Ser233Cys					GABRA2_uc010igc.2_Missense_Mutation_p.S233C|GABRA2_uc011bzc.1_Missense_Mutation_p.S178C|GABRA2_uc003gxe.2_Missense_Mutation_p.S233C	p.S233C	NM_001114175	NP_001107647	P47869	GBRA2_HUMAN			6	1370	-			233			Extracellular (Probable).		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	37	c.697A>T	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.710890	0.89112	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069;ENST00000515082	T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.76	5.76	0.90799	Neurotransmitter-gated ion-channel ligand-binding (3);	0.088817	0.85682	D	0.000000	D	0.89403	0.6705	M	0.86573	2.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.992;0.99	D	0.91070	0.4892	10	0.72032	D	0.01	.	15.2448	0.73499	0.0:0.0:0.0:1.0	.	178;233;233	B7Z1H8;G5E9Z6;P47869	.;.;GBRA2_HUMAN	C	233;233;233;233;178;233;233	ENSP00000421828:S233C;ENSP00000421300:S233C;ENSP00000371033:S233C;ENSP00000348897:S233C;ENSP00000444409:S178C;ENSP00000427603:S233C;ENSP00000423840:S233C	ENSP00000348897:S233C	S	-	1	0	GABRA2	46002348	1.000000	0.71417	0.995000	0.50966	0.938000	0.57974	8.040000	0.89188	2.197000	0.70478	0.533000	0.62120	AGT		PASS	0.368	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2			25	85	25	85	---	---	---	---
LIN54	132660	broad.mit.edu	37	4	83857171	83857171	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr4:83857171C>A	ENST00000340417.3	-	11	2185	c.1808G>T	c.(1807-1809)cGa>cTa	p.R603L	LIN54_ENST00000505397.1_Missense_Mutation_p.R603L|LIN54_ENST00000510557.1_Missense_Mutation_p.R382L|LIN54_ENST00000442461.2_Missense_Mutation_p.R382L|LIN54_ENST00000506560.1_Missense_Mutation_p.R514L|LIN54_ENST00000395283.2_Missense_Mutation_p.R514L|LIN54_ENST00000446851.2_Missense_Mutation_p.R382L|LIN54_ENST00000395282.2_3'UTR	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	603	CRC. {ECO:0000255|PROSITE- ProRule:PRU00971}.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.R603L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACATCCTGATCGTTTGCAATT	0.403																																						uc003hnx.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1807-1809)CGA>CTA		lin-54 homolog isoform a							208.0	188.0	195.0					4																	83857171		2203	4300	6503	SO:0001583	missense	132660				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr4:83857171C>A	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.1808G>T	4.37:g.83857171C>A	ENSP00000341947:p.Arg603Leu					LIN54_uc003hnz.3_Missense_Mutation_p.R382L|LIN54_uc003hny.3_Missense_Mutation_p.R202L|LIN54_uc010ijt.2_Missense_Mutation_p.R514L|LIN54_uc010iju.2_Missense_Mutation_p.R202L|LIN54_uc010ijv.2_Missense_Mutation_p.R382L	p.R603L	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN			11	2186	-		Hepatocellular(203;0.114)	603			CXC 2.		Q32M68|Q32M69|Q6N071|Q76B60	Missense_Mutation	SNP	ENST00000340417.3	37	c.1808G>T	CCDS3599.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022182	0.54683	.	.	ENSG00000189308	ENST00000340417;ENST00000395283;ENST00000442461;ENST00000446851;ENST00000510557;ENST00000506560;ENST00000505397	.	.	.	5.36	4.52	0.55395	Tesmin/TSO1-like, CXC (1);	0.061224	0.64402	D	0.000004	D	0.85080	0.5615	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.77004	0.989;0.964;0.978	D	0.88867	0.3330	9	0.87932	D	0	-13.6891	14.1713	0.65512	0.0:0.9285:0.0:0.0715	.	514;475;603	Q6MZP7-2;Q7Z3G2;Q6MZP7	.;.;LIN54_HUMAN	L	603;514;382;382;382;514;603	.	ENSP00000341947:R603L	R	-	2	0	LIN54	84076195	1.000000	0.71417	0.957000	0.39632	0.007000	0.05969	5.639000	0.67868	1.488000	0.48433	0.650000	0.86243	CGA		PASS	0.403	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	NM_194282		4	250	4	250	---	---	---	---
ENPEP	2028	broad.mit.edu	37	4	111463936	111463936	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr4:111463936G>T	ENST00000265162.5	+	12	2179	c.1837G>T	c.(1837-1839)Gga>Tga	p.G613*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	613					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G613*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		TAATCCTAGTGGAAATGCTTT	0.383																																						uc003iab.3																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|breast(1)	5						c.(1837-1839)GGA>TGA		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						107.0	113.0	111.0					4																	111463936		2203	4300	6503	SO:0001587	stop_gained	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111463936G>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1837G>T	4.37:g.111463936G>T	ENSP00000265162:p.Gly613*						p.G613*	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	12	2179	+		Hepatocellular(203;0.217)	613			Extracellular (Potential).		Q504U2	Nonsense_Mutation	SNP	ENST00000265162.5	37	c.1837G>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	41	8.935491	0.99008	.	.	ENSG00000138792	ENST00000265162	.	.	.	5.52	3.79	0.43588	.	4.794660	0.00397	N	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	7.3857	0.26880	0.1912:0.0:0.8088:0.0	.	.	.	.	X	613	.	ENSP00000265162:G613X	G	+	1	0	ENPEP	111683385	0.970000	0.33590	0.015000	0.15790	0.994000	0.84299	1.699000	0.37804	1.348000	0.45733	0.655000	0.94253	GGA		PASS	0.383	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			28	84	28	84	---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119644736	119644736	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr4:119644736G>A	ENST00000280551.6	-	23	3271	c.3033C>T	c.(3031-3033)taC>taT	p.Y1011Y	SEC24D_ENST00000511481.1_Silent_p.Y642Y|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000379735.5_Silent_p.Y1012Y|SEC24D_ENST00000505134.1_5'UTR			O94855	SC24D_HUMAN	SEC24 family member D	1011					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.Y1011Y(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AAGAGCCTCCGTAAAGTCCTT	0.383																																						uc003ici.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(3031-3033)TAC>TAT		Sec24-related protein D							109.0	115.0	113.0					4																	119644736		2203	4300	6503	SO:0001819	synonymous_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119644736G>A	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.3033C>T	4.37:g.119644736G>A						SEC24D_uc003ich.3_RNA|SEC24D_uc003icj.3_Silent_p.Y1012Y	p.Y1011Y	NM_014822	NP_055637	O94855	SC24D_HUMAN			23	3305	-			1011					Q8IYI7	Silent	SNP	ENST00000280551.6	37	c.3033C>T	CCDS3710.1																																																																																				PASS	0.383	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			5	180	5	180	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158254042	158254042	+	Silent	SNP	A	A	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr4:158254042A>G	ENST00000264426.9	+	7	1233	c.954A>G	c.(952-954)agA>agG	p.R318R	GRIA2_ENST00000393815.2_Silent_p.R271R|GRIA2_ENST00000296526.7_Silent_p.R318R|GRIA2_ENST00000449365.1_Silent_p.R271R|GRIA2_ENST00000507898.1_Silent_p.R271R	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	318					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R318R(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GGAAGCAAAGAATTGAAATCT	0.483																																						uc003ipm.3																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(952-954)AGA>AGG		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						81.0	88.0	86.0					4																	158254042		2203	4299	6502	SO:0001819	synonymous_variant	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158254042A>G		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.954A>G	4.37:g.158254042A>G						GRIA2_uc011cit.1_Silent_p.R271R|GRIA2_uc003ipl.3_Silent_p.R318R|GRIA2_uc003ipk.3_Silent_p.R271R|GRIA2_uc010iqh.1_RNA	p.R318R	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	7	1413	+	all_hematologic(180;0.24)	Renal(120;0.0458)	318			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Silent	SNP	ENST00000264426.9	37	c.954A>G	CCDS43274.1																																																																																				PASS	0.483	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			19	73	19	73	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13729589	13729589	+	Missense_Mutation	SNP	C	C	T	rs368545253		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr5:13729589C>T	ENST00000265104.4	-	69	11946	c.11842G>A	c.(11842-11844)Gaa>Aaa	p.E3948K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3948					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E3948K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGCTAAGTTCCACCAAATTC	0.378									Kartagener syndrome																													uc003jfd.2																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(11842-11844)GAA>AAA		dynein, axonemal, heavy chain 5							165.0	138.0	147.0					5																	13729589		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13729589C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11842G>A	5.37:g.13729589C>T	ENSP00000265104:p.Glu3948Lys					DNAH5_uc003jfc.2_Missense_Mutation_p.E116K	p.E3948K	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			69	11884	-	Lung NSC(4;0.00476)		3948					Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.11842G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	34	5.399123	0.96030	.	.	ENSG00000039139	ENST00000265104	T	0.08008	3.14	5.91	5.91	0.95273	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.20577	0.0495	L	0.48362	1.52	0.80722	D	1	P	0.43701	0.815	P	0.53722	0.733	T	0.00013	-1.2419	10	0.48119	T	0.1	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	3948	Q8TE73	DYH5_HUMAN	K	3948	ENSP00000265104:E3948K	ENSP00000265104:E3948K	E	-	1	0	DNAH5	13782589	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.684000	0.84104	2.814000	0.96858	0.650000	0.86243	GAA		PASS	0.378	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		31	121	31	121	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24491929	24491929	+	Silent	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr5:24491929A>T	ENST00000264463.4	-	11	2139	c.1632T>A	c.(1630-1632)acT>acA	p.T544T	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	544	Cadherin 5. {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)	p.T544T(1)		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)		AGATTCTGGCAGTATTATCTA	0.299										HNSCC(23;0.051)																												uc003jgr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|pancreas(4)|breast(2)	12						c.(1630-1632)ACT>ACA		cadherin 10, type 2 preproprotein							62.0	60.0	61.0					5																	24491929		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24491929A>T	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.1632T>A	5.37:g.24491929A>T		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.T544T	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	11	1964	-			544			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.1632T>A	CCDS3892.1																																																																																				PASS	0.299	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		9	35	9	35	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26915759	26915759	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr5:26915759C>T	ENST00000231021.4	-	3	674	c.502G>A	c.(502-504)Gtt>Att	p.V168I		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	168	Cadherin 2. {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)	p.V168I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTTCAGGAACACTGGCAGTG	0.353																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(502-504)GTT>ATT		cadherin 9, type 2 preproprotein							74.0	74.0	74.0					5																	26915759		2203	4300	6503	SO:0001583	missense	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26915759C>T	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.502G>A	5.37:g.26915759C>T	ENSP00000231021:p.Val168Ile					CDH9_uc010iug.2_Missense_Mutation_p.V168I	p.V168I	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	671	-			168			Extracellular (Potential).|Cadherin 2.		Q3B7I5	Missense_Mutation	SNP	ENST00000231021.4	37	c.502G>A	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249521	0.59212	.	.	ENSG00000113100	ENST00000231021	T	0.53857	0.6	4.77	4.77	0.60923	Cadherin (4);Cadherin-like (1);	0.059451	0.64402	D	0.000003	T	0.47078	0.1426	L	0.34521	1.04	0.41135	D	0.985916	B	0.15141	0.012	B	0.38020	0.263	T	0.39375	-0.9617	9	.	.	.	.	11.3747	0.49722	0.0:0.9103:0.0:0.0897	.	168	Q9ULB4	CADH9_HUMAN	I	168	ENSP00000231021:V168I	.	V	-	1	0	CDH9	26951516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.649000	0.46656	2.352000	0.79861	0.650000	0.86243	GTT		PASS	0.353	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		21	63	21	63	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	31799606	31799606	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr5:31799606G>T	ENST00000438447.1	+	2	639	c.251G>T	c.(250-252)gGc>gTc	p.G84V	PDZD2_ENST00000282493.3_Missense_Mutation_p.G84V			O15018	PDZD2_HUMAN	PDZ domain containing 2	84					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.G84V(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAGACTGTGGGCCTGAGTTTT	0.577																																						uc003jhl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(250-252)GGC>GTC		PDZ domain containing 2							110.0	114.0	112.0					5																	31799606		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31799606G>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.251G>T	5.37:g.31799606G>T	ENSP00000402033:p.Gly84Val					PDZD2_uc003jhm.2_Missense_Mutation_p.G84V	p.G84V	NM_178140	NP_835260	O15018	PDZD2_HUMAN			2	639	+			84					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.251G>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640598	0.87859	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	D;D	0.83163	-1.69;-1.69	5.67	5.67	0.87782	PDZ/DHR/GLGF (2);	0.000000	0.45606	D	0.000355	D	0.87224	0.6124	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88362	0.2988	10	0.87932	D	0	.	17.2551	0.87053	0.0:0.0:1.0:0.0	.	84	O15018	PDZD2_HUMAN	V	84	ENSP00000402033:G84V;ENSP00000282493:G84V	ENSP00000282493:G84V	G	+	2	0	PDZD2	31835363	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.055000	0.93873	2.661000	0.90470	0.655000	0.94253	GGC		PASS	0.577	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			17	770	17	770	---	---	---	---
RXFP3	51289	broad.mit.edu	37	5	33937484	33937484	+	Silent	SNP	G	G	T	rs200520186		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr5:33937484G>T	ENST00000330120.3	+	1	994	c.639G>T	c.(637-639)tcG>tcT	p.S213S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	213					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|G-protein coupled receptor activity (GO:0004930)	p.S213S(1)		endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCTGCTTCTCGGCCAAGGCGC	0.677													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16030	0.0		0.0	False		,,,				2504	0.0					uc003jic.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(637-639)TCG>TCT		relaxin/insulin-like family peptide receptor 3							27.0	29.0	28.0					5																	33937484		2202	4299	6501	SO:0001819	synonymous_variant	51289					integral to plasma membrane	N-formyl peptide receptor activity	g.chr5:33937484G>T	D88437	CCDS3900.1	5p15.1-p14	2012-08-08	2006-05-09	2006-03-15	ENSG00000182631	ENSG00000182631		"""GPCR / Class A : Relaxin family peptide receptors"""	24883	protein-coding gene	gene with protein product		609445	"""relaxin 3 receptor 1"", ""relaxin family peptide receptor 3"""	RLN3R1		15956688, 16507880	Standard	NM_016568		Approved	SALPR, GPCR135, RXFPR3	uc003jic.2	Q9NSD7	OTTHUMG00000090685	ENST00000330120.3:c.639G>T	5.37:g.33937484G>T							p.S213S	NM_016568	NP_057652	Q9NSD7	RL3R1_HUMAN			1	996	+			213			Cytoplasmic (Potential).		Q14DA5	Silent	SNP	ENST00000330120.3	37	c.639G>T	CCDS3900.1																																																																																				PASS	0.677	RXFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207369.1	NM_016568		13	38	13	38	---	---	---	---
CHSY3	337876	broad.mit.edu	37	5	129521341	129521341	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr5:129521341G>T	ENST00000305031.4	+	3	2864	c.2506G>T	c.(2506-2508)Gtt>Ttt	p.V836F		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	836					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.V836F(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TTTCCATCCAGTTCATTGTGA	0.443																																						uc003kvd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2506-2508)GTT>TTT		chondroitin sulfate synthase 3							85.0	83.0	83.0					5																	129521341		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129521341G>T	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2506G>T	5.37:g.129521341G>T	ENSP00000302629:p.Val836Phe						p.V836F	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2506	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	836			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.2506G>T	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511599	0.64522	.	.	ENSG00000198108	ENST00000305031	T	0.35421	1.31	4.06	4.06	0.47325	.	0.149416	0.30068	N	0.010493	T	0.59715	0.2214	M	0.73598	2.24	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.62172	-0.6910	9	.	.	.	.	17.5595	0.87902	0.0:0.0:1.0:0.0	.	836	Q70JA7	CHSS3_HUMAN	F	836	ENSP00000302629:V836F	.	V	+	1	0	CHSY3	129549240	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.666000	0.83877	2.557000	0.86248	0.650000	0.86243	GTT		PASS	0.443	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1	NM_175856		28	105	28	105	---	---	---	---
KDM3B	51780	broad.mit.edu	37	5	137721893	137721893	+	Silent	SNP	A	A	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr5:137721893A>G	ENST00000314358.5	+	7	1163	c.963A>G	c.(961-963)cgA>cgG	p.R321R	KDM3B_ENST00000394866.1_Intron|KDM3B_ENST00000542866.1_5'Flank	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	321					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)	p.R321R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AGGCAAGCCGAGGGCCCTGGA	0.542																																						uc003lcy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(961-963)CGA>CGG		jumonji domain containing 1B							113.0	116.0	115.0					5																	137721893		2203	4300	6503	SO:0001819	synonymous_variant	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137721893A>G	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.963A>G	5.37:g.137721893A>G						KDM3B_uc010jew.1_Intron|KDM3B_uc011cys.1_5'Flank	p.R321R	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			7	1163	+			321					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Silent	SNP	ENST00000314358.5	37	c.963A>G	CCDS34242.1																																																																																				PASS	0.542	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		67	168	67	168	---	---	---	---
PCDHB10	56126	broad.mit.edu	37	5	140573603	140573603	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr5:140573603C>T	ENST00000239446.4	+	1	1662	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	493	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P493L(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGCTGCCGCCCCAAGACCCG	0.682																																						uc003lix.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1477-1479)CCC>CTC		protocadherin beta 10 precursor																																				SO:0001583	missense	56126				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140573603C>T	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1478C>T	5.37:g.140573603C>T	ENSP00000239446:p.Pro493Leu						p.P493L	NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1652	+			493			Cadherin 5.|Extracellular (Potential).		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	c.1478C>T	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	6.219	0.408464	0.11754	.	.	ENSG00000120324	ENST00000239446	T	0.51817	0.69	3.53	2.65	0.31530	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.34366	0.0895	L	0.35793	1.09	0.09310	N	1	B	0.12630	0.006	B	0.18263	0.021	T	0.22800	-1.0206	9	0.66056	D	0.02	.	4.1053	0.10033	0.3619:0.5187:0.0:0.1194	.	493	Q9UN67	PCDBA_HUMAN	L	493	ENSP00000239446:P493L	ENSP00000239446:P493L	P	+	2	0	PCDHB10	140553787	.	.	0.886000	0.34754	0.221000	0.24807	.	.	1.994000	0.58287	0.549000	0.68633	CCC		PASS	0.682	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		23	145	23	145	---	---	---	---
JAKMIP2	9832	broad.mit.edu	37	5	147029969	147029969	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr5:147029969T>G	ENST00000265272.5	-	4	1236	c.769A>C	c.(769-771)Aac>Cac	p.N257H	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.N215H|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.N257H	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	257						Golgi apparatus (GO:0005794)		p.N257H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCATGTTGCACTCAGCC	0.483																																						uc003loq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(769-771)AAC>CAC		janus kinase and microtubule interacting protein							151.0	134.0	139.0					5																	147029969		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147029969T>G	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.769A>C	5.37:g.147029969T>G	ENSP00000265272:p.Asn257His					JAKMIP2_uc011dbx.1_Missense_Mutation_p.N215H|JAKMIP2_uc003lor.1_Missense_Mutation_p.N257H|uc003lop.1_Intron|JAKMIP2_uc010jgo.1_Missense_Mutation_p.N257H	p.N257H	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	1151	-			257					A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.769A>C	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.535282	0.27475	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.25414	1.8;1.8;1.8	5.65	5.65	0.86999	.	0.093423	0.85682	D	0.000000	T	0.25232	0.0613	N	0.19112	0.55	0.46044	D	0.998834	D;D;D;D	0.58620	0.983;0.983;0.983;0.983	P;P;P;P	0.53649	0.731;0.731;0.731;0.731	T	0.02220	-1.1193	10	0.07175	T	0.84	.	16.1864	0.81955	0.0:0.0:0.0:1.0	.	215;257;257;257	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	H	257;257;215;257	ENSP00000421398:N257H;ENSP00000265272:N257H;ENSP00000328989:N215H	ENSP00000265272:N257H	N	-	1	0	JAKMIP2	147010162	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	4.365000	0.59486	2.288000	0.76882	0.533000	0.62120	AAC		PASS	0.483	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		5	131	5	131	---	---	---	---
GALNT10	55568	broad.mit.edu	37	5	153760052	153760052	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr5:153760052G>T	ENST00000297107.6	+	6	936	c.799G>T	c.(799-801)Gat>Tat	p.D267Y	GALNT10_ENST00000519544.1_3'UTR|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.D205Y|GALNT10_ENST00000425427.2_Missense_Mutation_p.D267Y	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	267					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.D267Y(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CCCGATGATTGATGTAATTGA	0.537																																						uc003lvh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(799-801)GAT>TAT		GalNAc transferase 10 isoform a							221.0	190.0	200.0					5																	153760052		2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153760052G>T	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.799G>T	5.37:g.153760052G>T	ENSP00000297107:p.Asp267Tyr					GALNT10_uc003lvg.1_Missense_Mutation_p.D267Y|GALNT10_uc010jic.2_RNA|GALNT10_uc010jid.2_Missense_Mutation_p.D108Y	p.D267Y	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		6	931	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	267			Lumenal (Potential).		B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.799G>T	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	18.81	3.703416	0.68501	.	.	ENSG00000164574	ENST00000425427;ENST00000297107;ENST00000377661	T;T;T	0.58940	0.3;0.3;0.3	5.41	5.41	0.78517	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	D	0.85440	0.5697	H	0.97707	4.06	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.90611	0.4552	10	0.87932	D	0	.	19.2	0.93708	0.0:0.0:1.0:0.0	.	205;267;267	Q86SR1-2;Q86SR1;Q86SR1-3	.;GLT10_HUMAN;.	Y	267;267;205	ENSP00000415210:D267Y;ENSP00000297107:D267Y;ENSP00000366889:D205Y	ENSP00000297107:D267Y	D	+	1	0	GALNT10	153740245	1.000000	0.71417	0.846000	0.33378	0.229000	0.25112	9.640000	0.98453	2.535000	0.85469	0.462000	0.41574	GAT		PASS	0.537	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		97	221	97	221	---	---	---	---
OR2B6	26212	broad.mit.edu	37	6	27925357	27925357	+	Silent	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr6:27925357T>C	ENST00000244623.1	+	1	339	c.339T>C	c.(337-339)ctT>ctC	p.L113L		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	113						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L113L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGAATATCTTCTCCTGGCCG	0.458																																						uc011dkx.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(337-339)CTT>CTC		olfactory receptor, family 2, subfamily B,							67.0	67.0	67.0					6																	27925357		2203	4299	6502	SO:0001819	synonymous_variant	26212				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:27925357T>C	U86275	CCDS4642.1	6p22.1	2012-08-09			ENSG00000124657	ENSG00000124657		"""GPCR / Class A : Olfactory receptors"""	8241	protein-coding gene	gene with protein product				OR2B6P, OR2B1, OR2B1P, OR2B5		9500546	Standard	NM_012367		Approved	OR6-31, dJ408B20.2, OR5-40, OR5-41	uc011dkx.2	P58173	OTTHUMG00000014497	ENST00000244623.1:c.339T>C	6.37:g.27925357T>C							p.L113L	NM_012367	NP_036499	P58173	OR2B6_HUMAN			1	339	+			113			Helical; Name=3; (Potential).		O43883|Q6IF89|Q9H5B0	Silent	SNP	ENST00000244623.1	37	c.339T>C	CCDS4642.1																																																																																				PASS	0.458	OR2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040165.1			16	157	16	157	---	---	---	---
OR12D2	26529	broad.mit.edu	37	6	29365344	29365344	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr6:29365344A>T	ENST00000383555.2	+	1	929	c.868A>T	c.(868-870)Act>Tct	p.T290S	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T290S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ACTGATCTATACTTTGAGGAA	0.458																																						uc003nmf.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(868-870)ACT>TCT		olfactory receptor, family 12, subfamily D,							116.0	126.0	122.0					6																	29365344		1509	2708	4217	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29365344A>T		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.868A>T	6.37:g.29365344A>T	ENSP00000373047:p.Thr290Ser						p.T290S	NM_013936	NP_039224	P58182	O12D2_HUMAN			1	929	+			290			Helical; Name=7; (Potential).		B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.868A>T	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	A	0.205	-1.041215	0.02013	.	.	ENSG00000168787	ENST00000383555	T	0.36157	1.27	3.94	2.75	0.32379	.	0.000000	0.64402	D	0.000013	T	0.04227	0.0117	N	0.04260	-0.245	0.09310	N	1	B	0.28900	0.227	B	0.31245	0.126	T	0.46345	-0.9198	10	0.02654	T	1	.	9.3065	0.37878	0.8388:0.0:0.0:0.1612	.	290	P58182	O12D2_HUMAN	S	290	ENSP00000373047:T290S	ENSP00000373047:T290S	T	+	1	0	OR12D2	29473323	0.001000	0.12720	0.046000	0.18839	0.497000	0.33675	0.542000	0.23222	0.551000	0.29008	0.172000	0.16884	ACT		PASS	0.458	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			68	236	68	236	---	---	---	---
ITPR3	3710	broad.mit.edu	37	6	33641396	33641396	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr6:33641396G>A	ENST00000374316.5	+	24	4017	c.2957G>A	c.(2956-2958)cGc>cAc	p.R986H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R986H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	986					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.R986H(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CTGGATTACCGCATATCCTAC	0.542																																						uc011drk.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(2956-2958)CGC>CAC		inositol 1,4,5-triphosphate receptor, type 3							286.0	244.0	258.0					6																	33641396		2203	4300	6503	SO:0001583	missense	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33641396G>A	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.2957G>A	6.37:g.33641396G>A	ENSP00000363435:p.Arg986His						p.R986H	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			23	3176	+			986			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	c.2957G>A	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	35	5.519772	0.96416	.	.	ENSG00000096433	ENST00000374316	T	0.64260	-0.09	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.79575	0.4469	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.83177	-0.0091	10	0.87932	D	0	-28.8961	19.1061	0.93296	0.0:0.0:1.0:0.0	.	986	Q14573	ITPR3_HUMAN	H	986	ENSP00000363435:R986H	ENSP00000363435:R986H	R	+	2	0	ITPR3	33749374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.574000	0.86865	0.655000	0.94253	CGC		PASS	0.542	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224		7	806	7	806	---	---	---	---
ZNF451	26036	broad.mit.edu	37	6	56993549	56993549	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr6:56993549C>T	ENST00000370706.4	+	5	579	c.335C>T	c.(334-336)gCt>gTt	p.A112V	RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.A112V|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.A112V	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A112V(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTCAGCATGCTCATGGGTTA	0.358																																						uc003pdm.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(334-336)GCT>GTT		zinc finger protein 451 isoform 1							101.0	96.0	98.0					6																	56993549		2203	4300	6503	SO:0001583	missense	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:56993549C>T	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.335C>T	6.37:g.56993549C>T	ENSP00000359740:p.Ala112Val					ZNF451_uc003pdl.2_Missense_Mutation_p.A112V|ZNF451_uc003pdn.1_Missense_Mutation_p.A112V|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.A112V	p.A112V	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		5	559	+	Lung NSC(77;0.145)		112					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	ENST00000370706.4	37	c.335C>T	CCDS43477.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.940646	0.92526	.	.	ENSG00000112200	ENST00000510483;ENST00000370706;ENST00000357489;ENST00000491832	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.999;0.997	T	0.01337	-1.1381	10	0.87932	D	0	-12.6717	17.7685	0.88485	0.0:1.0:0.0:0.0	.	112;112;112;112	Q9Y4E5-2;Q9Y4E5;E9PH99;Q4KMR5	.;ZN451_HUMAN;.;.	V	84;112;112;112	ENSP00000427558:A84V;ENSP00000359740:A112V;ENSP00000350083:A112V;ENSP00000421645:A112V	ENSP00000350083:A112V	A	+	2	0	ZNF451	57101508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.406000	0.66357	2.282000	0.76494	0.655000	0.94253	GCT		PASS	0.358	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		10	90	10	90	---	---	---	---
FILIP1	27145	broad.mit.edu	37	6	76022396	76022396	+	Missense_Mutation	SNP	C	C	A	rs144029973		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr6:76022396C>A	ENST00000237172.7	-	5	3482	c.3152G>T	c.(3151-3153)cGg>cTg	p.R1051L	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.R952L|FILIP1_ENST00000393004.2_Missense_Mutation_p.R1051L	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1051								p.R1051L(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GTTGTATTTCCGTACTGGAGT	0.463																																						uc003pia.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(3151-3153)CGG>CTG		filamin A interacting protein 1							270.0	264.0	266.0					6																	76022396		2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022396C>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3152G>T	6.37:g.76022396C>A	ENSP00000237172:p.Arg1051Leu					FILIP1_uc003phy.1_Missense_Mutation_p.R1051L|FILIP1_uc003phz.2_Missense_Mutation_p.R952L|FILIP1_uc010kbe.2_Missense_Mutation_p.R1054L|FILIP1_uc003pib.1_Missense_Mutation_p.R803L	p.R1051L	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	3525	-			1051					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3152G>T	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.202722	0.79127	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.29655	1.57;1.56;1.57	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.61218	1.895	0.41564	D	0.988649	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.98;0.995;0.998	T	0.35325	-0.9793	10	0.51188	T	0.08	-18.324	20.5568	0.99304	0.0:1.0:0.0:0.0	.	1051;1051;1051	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	L	1051;1051;952	ENSP00000376728:R1051L;ENSP00000237172:R1051L;ENSP00000359037:R952L	ENSP00000237172:R1051L	R	-	2	0	FILIP1	76079116	0.448000	0.25681	0.950000	0.38849	0.995000	0.86356	3.674000	0.54598	2.861000	0.98227	0.655000	0.94253	CGG		PASS	0.463	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		6	825	6	825	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725810	87725810	+	Missense_Mutation	SNP	C	C	A	rs371341409		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr6:87725810C>A	ENST00000305344.5	+	2	1461	c.758C>A	c.(757-759)aCc>aAc	p.T253N		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	253					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.T253N(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	TCAGACCCTACCACAGAGTTT	0.478																																						uc003pli.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(757-759)ACC>AAC		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						164.0	165.0	165.0					6																	87725810		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725810C>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.758C>A	6.37:g.87725810C>A	ENSP00000307766:p.Thr253Asn						p.T253N	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1461	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	253			Cytoplasmic (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.758C>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407535	0.25378	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.66995	-0.24;-0.24	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000006	T	0.48732	0.1516	N	0.13327	0.33	0.41720	D	0.989505	P	0.51240	0.943	P	0.53490	0.727	T	0.49542	-0.8929	10	0.18276	T	0.48	.	16.925	0.86174	0.0:1.0:0.0:0.0	.	253	P28566	5HT1E_HUMAN	N	253	ENSP00000307766:T253N;ENSP00000358597:T253N	ENSP00000307766:T253N	T	+	2	0	HTR1E	87782529	1.000000	0.71417	0.990000	0.47175	0.544000	0.35116	5.243000	0.65395	2.004000	0.58718	0.205000	0.17691	ACC		PASS	0.478	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		66	506	66	506	---	---	---	---
CDK19	23097	broad.mit.edu	37	6	110953250	110953250	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr6:110953250T>C	ENST00000368911.3	-	6	808	c.629A>G	c.(628-630)cAt>cGt	p.H210R	CDK19_ENST00000323817.3_Missense_Mutation_p.H150R|CDK19_ENST00000413605.2_Missense_Mutation_p.H86R	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)	p.H210R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						CTTTGTATAATGCCTTGCACC	0.353																																						uc003puh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(628-630)CAT>CGT		cell division cycle 2-like 6 (CDK8-like)							95.0	93.0	94.0					6																	110953250		2203	4300	6503	SO:0001583	missense	23097						ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr6:110953250T>C	AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.629A>G	6.37:g.110953250T>C	ENSP00000357907:p.His210Arg					CDK19_uc003pui.1_Missense_Mutation_p.H150R|CDK19_uc011eax.1_Missense_Mutation_p.H86R	p.H210R	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN			6	702	-			210			Protein kinase.		Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	Missense_Mutation	SNP	ENST00000368911.3	37	c.629A>G	CCDS5085.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174171	0.78452	.	.	ENSG00000155111	ENST00000368911;ENST00000323817;ENST00000392576;ENST00000413605;ENST00000457688	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	L	0.38692	1.165	0.80722	D	1	D;D	0.71674	0.998;0.996	D;D	0.71870	0.975;0.965	T	0.66917	-0.5802	10	0.51188	T	0.08	-7.9691	15.0081	0.71527	0.0:0.0:0.0:1.0	.	86;210	B4DUB1;Q9BWU1	.;CDK19_HUMAN	R	210;150;149;86;150	ENSP00000357907:H210R;ENSP00000317665:H150R;ENSP00000410604:H86R;ENSP00000415621:H150R	ENSP00000317665:H150R	H	-	2	0	CDK19	111059943	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	1.951000	0.56629	0.459000	0.35465	CAT		PASS	0.353	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041804.1	NM_015076		24	188	24	188	---	---	---	---
SHPRH	257218	broad.mit.edu	37	6	146276093	146276093	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr6:146276093C>A	ENST00000367505.2	-	2	630	c.366G>T	c.(364-366)caG>caT	p.Q122H	SHPRH_ENST00000438092.2_Missense_Mutation_p.Q122H|SHPRH_ENST00000275233.7_Missense_Mutation_p.Q122H|SHPRH_ENST00000367503.3_Missense_Mutation_p.Q122H			Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	122					DNA repair (GO:0006281)|nucleosome assembly (GO:0006334)|protein polyubiquitination (GO:0000209)	nucleosome (GO:0000786)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q122H(1)		breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CAGGAAGAAGCTGAAGAGTTA	0.328																																						uc003qlf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(364-366)CAG>CAT		SNF2 histone linker PHD RING helicase isoform a							68.0	63.0	64.0					6																	146276093		1807	4064	5871	SO:0001583	missense	257218				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr6:146276093C>A	AB095943	CCDS43513.1, CCDS47496.1, CCDS43513.2	6q24.2	2012-02-23	2012-02-23		ENSG00000146414	ENSG00000146414		"""RING-type (C3HC4) zinc fingers"""	19336	protein-coding gene	gene with protein product		608048	"""SNF2 histone linker PHD RING helicase"""			12837266	Standard	NM_001042683		Approved	FLJ90837, KIAA2023, bA545I5.2	uc003qlf.3	Q149N8	OTTHUMG00000015750	ENST00000367505.2:c.366G>T	6.37:g.146276093C>A	ENSP00000356475:p.Gln122His					SHPRH_uc003qld.2_Missense_Mutation_p.Q122H|SHPRH_uc003qle.2_Missense_Mutation_p.Q122H|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Intron|SHPRH_uc003qlk.1_Missense_Mutation_p.Q122H	p.Q122H	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)	2	765	-		Ovarian(120;0.0365)	122					Q149N9|Q5VV79|Q68DS5|Q7Z5J5|Q8IVE8|Q8IWQ9|Q8N1S8|Q8NBR7	Missense_Mutation	SNP	ENST00000367505.2	37	c.366G>T	CCDS43513.2	.	.	.	.	.	.	.	.	.	.	C	10.90	1.482074	0.26598	.	.	ENSG00000146414	ENST00000367505;ENST00000367503;ENST00000438092;ENST00000275233	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.66	3.78	0.43462	.	0.378225	0.25089	N	0.033239	T	0.24509	0.0594	L	0.38175	1.15	0.26377	N	0.976793	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.06127	-1.0844	10	0.35671	T	0.21	-2.8567	1.9881	0.03440	0.2496:0.468:0.1241:0.1583	.	122;122	Q149N8;Q149N8-4	SHPRH_HUMAN;.	H	122	ENSP00000356475:Q122H;ENSP00000356473:Q122H;ENSP00000412797:Q122H;ENSP00000275233:Q122H	ENSP00000275233:Q122H	Q	-	3	2	SHPRH	146317786	0.971000	0.33674	1.000000	0.80357	0.946000	0.59487	0.085000	0.14912	1.405000	0.46838	0.655000	0.94253	CAG		PASS	0.328	SHPRH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042571.2	NM_173082		16	72	16	72	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152786540	152786540	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr6:152786540C>A	ENST00000367255.5	-	18	2386	c.1785G>T	c.(1783-1785)agG>agT	p.R595S	SYNE1_ENST00000466159.2_Missense_Mutation_p.R595S|SYNE1_ENST00000495090.2_Missense_Mutation_p.R162S|SYNE1_ENST00000413186.2_Missense_Mutation_p.R595S|SYNE1_ENST00000341594.5_Missense_Mutation_p.R602S|SYNE1_ENST00000367248.3_Missense_Mutation_p.R585S|SYNE1_ENST00000448038.1_Missense_Mutation_p.R602S|SYNE1_ENST00000265368.4_Missense_Mutation_p.R595S|SYNE1_ENST00000367253.4_Missense_Mutation_p.R595S|SYNE1_ENST00000423061.1_Missense_Mutation_p.R602S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	595					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R595S(2)|p.R602S(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTGAGAGATTCCTCCACTGAG	0.428										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(1783-1785)AGG>AGT		spectrin repeat containing, nuclear envelope 1							129.0	110.0	116.0					6																	152786540		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152786540C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.1785G>T	6.37:g.152786540C>A	ENSP00000356224:p.Arg595Ser	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.R602S|SYNE1_uc003qou.3_Missense_Mutation_p.R595S|SYNE1_uc010kjb.1_Missense_Mutation_p.R578S|SYNE1_uc003qpa.1_Missense_Mutation_p.R595S|SYNE1_uc003qow.2_5'Flank|SYNE1_uc003qox.1_Missense_Mutation_p.R111S|SYNE1_uc003qoz.2_Missense_Mutation_p.R27S|SYNE1_uc003qoy.2_Missense_Mutation_p.R162S	p.R595S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	18	2387	-		Ovarian(120;0.0955)	595			Cytoplasmic (Potential).|HAT 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.1785G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868746	0.51588	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090;ENST00000466159;ENST00000537750	T;T;T;T;T;T;T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38;1.38	5.68	2.99	0.34606	.	0.000000	0.64402	D	0.000003	T	0.38480	0.1042	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;P;D	0.71674	0.998;0.969;0.985;0.982;0.998;0.947;0.982	P;P;P;P;D;P;P	0.66351	0.907;0.606;0.804;0.861;0.943;0.451;0.861	T	0.16660	-1.0395	10	0.33141	T	0.24	.	9.7653	0.40557	0.0:0.7656:0.0:0.2344	.	578;595;595;162;585;595;602	B3W695;Q8NF91;F5H4Q0;F5H422;F5GXQ8;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	S	595;602;595;602;602;595;585;595;162;595;578	ENSP00000356224:R595S;ENSP00000396024:R602S;ENSP00000265368:R595S;ENSP00000390975:R602S;ENSP00000341887:R602S;ENSP00000356222:R595S;ENSP00000356217:R585S;ENSP00000414510:R595S;ENSP00000438508:R162S;ENSP00000446021:R595S;ENSP00000441264:R578S	ENSP00000265368:R595S	R	-	3	2	SYNE1	152828233	0.999000	0.42202	1.000000	0.80357	0.389000	0.30415	0.732000	0.26072	0.363000	0.24346	-1.202000	0.01658	AGG		PASS	0.428	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		25	61	25	61	---	---	---	---
IGF2R	3482	broad.mit.edu	37	6	160477534	160477534	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr6:160477534C>G	ENST00000356956.1	+	20	2921	c.2773C>G	c.(2773-2775)Cag>Gag	p.Q925E		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	925					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.Q925E(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CTGTCCCATTCAGACAACGAC	0.552																																						uc003qta.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2773-2775)CAG>GAG		insulin-like growth factor 2 receptor precursor							199.0	153.0	168.0					6																	160477534		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160477534C>G	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.2773C>G	6.37:g.160477534C>G	ENSP00000349437:p.Gln925Glu						p.Q925E	NM_000876	NP_000867	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	20	2921	+		Breast(66;0.000777)|Ovarian(120;0.0305)	925			6.|Lumenal (Potential).		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.2773C>G	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	C	3.491	-0.103921	0.06967	.	.	ENSG00000197081	ENST00000356956	T	0.08546	3.08	4.25	3.28	0.37604	.	1.131800	0.06454	N	0.728163	T	0.02727	0.0082	M	0.65975	2.015	0.09310	N	1	B	0.23128	0.08	B	0.23018	0.043	T	0.53920	-0.8370	10	0.02654	T	1	-6.7431	6.5657	0.22511	0.3076:0.5275:0.1649:0.0	.	925	P11717	MPRI_HUMAN	E	925	ENSP00000349437:Q925E	ENSP00000349437:Q925E	Q	+	1	0	IGF2R	160397524	0.003000	0.15002	0.000000	0.03702	0.006000	0.05464	1.563000	0.36364	2.314000	0.78098	0.561000	0.74099	CAG		PASS	0.552	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		26	155	26	155	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	162683555	162683555	+	Splice_Site	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr6:162683555A>T	ENST00000366898.1	-	3	515		c.e3+1		PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366892.1_Splice_Site|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Splice_Site|PARK2_ENST00000338468.3_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CATTCCAATTACCTGGACTTC	0.488																																						uc003qtx.3																			1	Unknown(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.e3+1		parkin isoform 1							66.0	66.0	66.0					6																	162683555		2203	4300	6503	SO:0001630	splice_region_variant	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162683555A>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.412+1T>A	6.37:g.162683555A>T						PARK2_uc003qtv.3_Intron|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_Splice_Site|PARK2_uc003qty.3_Splice_Site_p.A138_splice|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Splice_Site_p.A138_splice	p.A138_splice	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	3	546	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)						A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Splice_Site	SNP	ENST00000366898.1	37	c.412_splice	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	A	11.15	1.554695	0.27739	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366892;ENST00000366895	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4679	0.50249	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PARK2	162603545	1.000000	0.71417	0.999000	0.59377	0.025000	0.11179	4.977000	0.63792	1.971000	0.57363	0.459000	0.35465	.		PASS	0.488	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		Intron	35	190	35	190	---	---	---	---
ICA1	3382	broad.mit.edu	37	7	8272244	8272244	+	Silent	SNP	G	G	A	rs149823604	byFrequency	TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:8272244G>A	ENST00000402384.3	-	3	425	c.159C>T	c.(157-159)gaC>gaT	p.D53D	ICA1_ENST00000401396.1_Silent_p.D41D|ICA1_ENST00000406470.2_Silent_p.D53D|ICA1_ENST00000265577.7_Silent_p.D52D|ICA1_ENST00000407906.1_Silent_p.D53D|ICA1_ENST00000396675.3_Silent_p.D53D|ICA1_ENST00000422063.2_Silent_p.D53D			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	53	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)		p.D53D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		CCAGGTCCGCGTCAGAGGCAA	0.478																																						uc003srm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(157-159)GAC>GAT		islet cell autoantigen 1		G	,,	2,4404	4.2+/-10.8	0,2,2201	162.0	137.0	146.0		159,159,159	-6.3	0.6	7	dbSNP_134	146	11,8589	8.4+/-32.0	0,11,4289	no	coding-synonymous,coding-synonymous,coding-synonymous	ICA1	NM_001136020.1,NM_004968.2,NM_022307.2	,,	0,13,6490	AA,AG,GG		0.1279,0.0454,0.1	,,	53/484,53/484,53/484	8272244	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	3382				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane		g.chr7:8272244G>A		CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.159C>T	7.37:g.8272244G>A						ICA1_uc010ktr.2_Silent_p.D53D|ICA1_uc003srl.2_Silent_p.D41D|ICA1_uc003srn.3_Translation_Start_Site|ICA1_uc003srp.3_Silent_p.D52D|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Silent_p.D53D|ICA1_uc003srr.2_Silent_p.D52D|ICA1_uc003sro.3_Silent_p.D53D|ICA1_uc011jxg.1_Silent_p.D53D|ICA1_uc003srs.1_Silent_p.D53D	p.D53D	NM_022307	NP_071682	Q05084	ICA69_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)	3	226	-		Ovarian(82;0.0612)	53			AH.		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Silent	SNP	ENST00000402384.3	37	c.159C>T	CCDS34602.1																																																																																				PASS	0.478	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324793.1	NM_004968		5	62	5	62	---	---	---	---
GPNMB	10457	broad.mit.edu	37	7	23296641	23296641	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:23296641C>T	ENST00000381990.2	+	4	659	c.498C>T	c.(496-498)ccC>ccT	p.P166P	GPNMB_ENST00000258733.4_Silent_p.P166P|GPNMB_ENST00000409458.3_Silent_p.P166P|GPNMB_ENST00000539136.1_Silent_p.P67P|GPNMB_ENST00000453162.2_Intron	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	166					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.P166P(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTCACCACCCCGGATGGAGAA	0.468																																						uc003swc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(2)	5						c.(496-498)CCC>CCT		glycoprotein (transmembrane) nmb isoform a							127.0	115.0	119.0					7																	23296641		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23296641C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.498C>T	7.37:g.23296641C>T						GPNMB_uc003swa.2_Silent_p.P166P|GPNMB_uc003swb.2_Silent_p.P166P|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Silent_p.P67P	p.P166P	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		4	659	+			166			Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.498C>T	CCDS34610.1																																																																																				PASS	0.468	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		107	192	107	192	---	---	---	---
AQP1	358	broad.mit.edu	37	7	30951901	30951901	+	Missense_Mutation	SNP	G	G	A	rs556371635		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:30951901G>A	ENST00000311813.4	+	1	432	c.377G>A	c.(376-378)cGc>cAc	p.R126H	AQP1_ENST00000434909.2_Missense_Mutation_p.R186H|AQP1_ENST00000509504.1_Missense_Mutation_p.R303H	NM_198098.2	NP_932766.1	P29972	AQP1_HUMAN	aquaporin 1 (Colton blood group)	126					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|camera-type eye morphogenesis (GO:0048593)|carbon dioxide transmembrane transport (GO:0035378)|carbon dioxide transport (GO:0015670)|cation transmembrane transport (GO:0098655)|cell volume homeostasis (GO:0006884)|cellular homeostasis (GO:0019725)|cellular hyperosmotic response (GO:0071474)|cellular response to cAMP (GO:0071320)|cellular response to copper ion (GO:0071280)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to inorganic substance (GO:0071241)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mercury ion (GO:0071288)|cellular response to nitric oxide (GO:0071732)|cellular response to retinoic acid (GO:0071300)|cellular response to salt stress (GO:0071472)|cellular response to stress (GO:0033554)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|cGMP biosynthetic process (GO:0006182)|corticotropin secretion (GO:0051458)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|glomerular filtration (GO:0003094)|glycerol transport (GO:0015793)|hyperosmotic salinity response (GO:0042538)|lateral ventricle development (GO:0021670)|lipid digestion (GO:0044241)|maintenance of symbiont-containing vacuole by host (GO:0085018)|metanephric descending thin limb development (GO:0072220)|metanephric glomerulus vasculature development (GO:0072239)|metanephric proximal convoluted tubule segment 2 development (GO:0072232)|metanephric proximal straight tubule development (GO:0072230)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|nitric oxide transport (GO:0030185)|odontogenesis (GO:0042476)|pancreatic juice secretion (GO:0030157)|positive regulation of angiogenesis (GO:0045766)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of saliva secretion (GO:0046878)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|renal water absorption (GO:0070295)|renal water transport (GO:0003097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|secretory granule organization (GO:0033363)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)|transepithelial water transport (GO:0035377)|transmembrane transport (GO:0055085)|water transport (GO:0006833)|wound healing (GO:0042060)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon terminus (GO:0043679)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|symbiont-containing vacuole (GO:0020003)	ammonium transmembrane transporter activity (GO:0008519)|carbon dioxide transmembrane transporter activity (GO:0035379)|glycerol transmembrane transporter activity (GO:0015168)|intracellular cGMP activated cation channel activity (GO:0005223)|nitric oxide transmembrane transporter activity (GO:0030184)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)|transmembrane transporter activity (GO:0022857)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)	p.R126H(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)			Acetazolamide(DB00819)	TCGCTTGGCCGCAATGACGTG	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19237	0.0		0.0	False		,,,				2504	0.0					uc003tbv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)CGC>CAC		aquaporin 1	Acetazolamide(DB00819)						63.0	66.0	65.0					7																	30951901		2203	4300	6503	SO:0001583	missense	358				ammonium transport|cell volume homeostasis|cellular hyperosmotic response|cellular response to cAMP|cellular response to copper ion|cellular response to dexamethasone stimulus|cellular response to hydrogen peroxide|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to mercury ion|cellular response to nitric oxide|cellular response to retinoic acid|cellular response to salt stress|cellular response to UV|cerebrospinal fluid secretion|cGMP biosynthetic process|establishment or maintenance of actin cytoskeleton polarity|lateral ventricle development|maintenance of symbiont-containing vacuole via substance secreted by host|negative regulation of apoptosis|odontogenesis|pancreatic juice secretion|positive regulation of angiogenesis|positive regulation of fibroblast proliferation|positive regulation of saliva secretion|renal water transport|response to drug|transepithelial water transport	apical plasma membrane|basal plasma membrane|brush border membrane|cytoplasm|integral to plasma membrane|nuclear membrane|sarcolemma|symbiont-containing vacuole	ammonia transmembrane transporter activity|carbon dioxide transmembrane transporter activity|glycerol transmembrane transporter activity|intracellular cGMP activated cation channel activity|nitric oxide transmembrane transporter activity|potassium channel activity|potassium ion transmembrane transporter activity|protein binding|water channel activity	g.chr7:30951901G>A	M77829	CCDS5431.1, CCDS55096.1, CCDS55097.1, CCDS55098.1	7p14	2014-07-19	2014-01-02		ENSG00000240583	ENSG00000240583		"""Ion channels / Aquaporins"", ""Blood group antigens"""	633	protein-coding gene	gene with protein product		107776	"""Colton blood group"", ""aquaporin 1 (channel-forming integral protein, 28kDa)"", ""aquaporin 1 (channel-forming integral protein, 28kDa, CO blood group)"", ""aquaporin 1"""	CO		1722319, 3166547	Standard	NM_198098		Approved	CHIP28		P29972	OTTHUMG00000023944	ENST00000311813.4:c.377G>A	7.37:g.30951901G>A	ENSP00000311165:p.Arg126His					AQP1_uc011kac.1_Missense_Mutation_p.R186H	p.R126H	NM_198098	NP_932766	P29972	AQP1_HUMAN			1	434	+		Melanoma(862;0.16)	126			Extracellular.		B5BU39|E7EM69|E9PC21|F5GY19|Q8TBI5|Q8TDC1	Missense_Mutation	SNP	ENST00000311813.4	37	c.377G>A	CCDS5431.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.639843	0.47153	.	.	ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000240583;ENSG00000250424	ENST00000434909;ENST00000265298;ENST00000311813;ENST00000413400;ENST00000509504	D;D;D	0.92911	-3.13;-3.13;-3.13	4.61	0.292	0.15737	Aquaporin-like (2);	0.316649	0.33572	N	0.004761	D	0.86908	0.6046	N	0.16201	0.385	0.80722	D	1	D;P	0.63880	0.993;0.468	P;B	0.50659	0.647;0.111	D	0.85027	0.0915	10	0.51188	T	0.08	.	12.5957	0.56468	0.0:0.0:0.2754:0.7246	.	186;126	B4E220;P29972	.;AQP1_HUMAN	H	186;31;126;111;303	ENSP00000395059:R186H;ENSP00000311165:R126H;ENSP00000421315:R303H	ENSP00000265298:R31H	R	+	2	0	RP5-877J2.1;AQP1	30918426	1.000000	0.71417	0.972000	0.41901	0.317000	0.28152	3.025000	0.49681	0.223000	0.20920	0.561000	0.74099	CGC		PASS	0.612	AQP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215002.3	NM_000385		5	298	5	298	---	---	---	---
NPSR1	387129	broad.mit.edu	37	7	34851432	34851432	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:34851432C>T	ENST00000360581.1	+	4	563	c.435C>T	c.(433-435)gaC>gaT	p.D145D	NPSR1_ENST00000359791.1_Silent_p.D145D|NPSR1_ENST00000381539.3_Silent_p.D145D|NPSR1_ENST00000531252.1_Silent_p.D134D|NPSR1_ENST00000381542.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	145						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|vasopressin receptor activity (GO:0005000)	p.D145D(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCAGCATAGACAGATACCATG	0.498																																						uc003teg.1																			2	Substitution - coding silent(2)		lung(2)	skin(3)|pancreas(1)	4						c.(433-435)GAC>GAT		G protein-coupled receptor for asthma	Halothane(DB01159)						251.0	195.0	214.0					7																	34851432		2203	4300	6503	SO:0001819	synonymous_variant	387129					cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity	g.chr7:34851432C>T	AY255536	CCDS5443.1, CCDS5444.1, CCDS75579.1, CCDS75580.1, CCDS75581.1	7p14.3	2012-08-08	2006-05-10	2006-05-10	ENSG00000187258	ENSG00000187258		"""GPCR / Class A : Neuropeptide receptors : S"""	23631	protein-coding gene	gene with protein product		608595	"""G protein-coupled receptor 154"""	GPR154		12679517, 15073379	Standard	NM_207173		Approved	PGR14, GPRA	uc003tei.1	Q6W5P4	OTTHUMG00000099383	ENST00000360581.1:c.435C>T	7.37:g.34851432C>T						AAA1_uc010kwq.1_Intron|AAA1_uc011kaq.1_Intron|NPSR1_uc003teh.1_Silent_p.D145D|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.D145D|NPSR1_uc010kww.1_Silent_p.D134D|NPSR1_uc011kar.1_Intron|AAA1_uc010kwy.2_Intron|AAA1_uc003tek.3_Intron	p.D145D	NM_207172	NP_997055	Q6W5P4	NPSR1_HUMAN			4	563	+			145			Cytoplasmic (Potential).		A2RTZ4|Q2XP58|Q56H76|Q56H77|Q56H78|Q6JSL4|Q6JSL5|Q6JSL6|Q6JSL7|Q6JSL8|Q6W5P3|Q6ZMB8	Silent	SNP	ENST00000360581.1	37	c.435C>T	CCDS5444.1																																																																																				PASS	0.498	NPSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216837.1	NM_207173		44	277	44	277	---	---	---	---
TBX20	57057	broad.mit.edu	37	7	35242156	35242156	+	Silent	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:35242156G>T	ENST00000408931.3	-	8	1756	c.1230C>A	c.(1228-1230)ggC>ggA	p.G410G		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	410					aortic valve morphogenesis (GO:0003180)|atrial septum morphogenesis (GO:0060413)|blood circulation (GO:0008015)|cardiac chamber formation (GO:0003207)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|dorsal/ventral pattern formation (GO:0009953)|embryonic heart tube elongation (GO:0036306)|embryonic heart tube morphogenesis (GO:0003143)|endocardial cushion formation (GO:0003272)|endocardial cushion morphogenesis (GO:0003203)|endoderm formation (GO:0001706)|foramen ovale closure (GO:0035922)|heart looping (GO:0001947)|lateral mesoderm formation (GO:0048370)|muscle contraction (GO:0006936)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|outflow tract septum morphogenesis (GO:0003148)|patterning of blood vessels (GO:0001569)|pericardium morphogenesis (GO:0003344)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary valve formation (GO:0003193)|pulmonary vein morphogenesis (GO:0060577)|tricuspid valve development (GO:0003175)|visceral motor neuron differentiation (GO:0021524)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G410G(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGAATGTGGGGCCACTCCCTT	0.557																																						uc011kas.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(1228-1230)GGC>GGA		T-box transcription factor TBX20							51.0	52.0	52.0					7																	35242156		1973	4159	6132	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35242156G>T	AJ237589	CCDS43568.1	7p14.3	2014-09-17			ENSG00000164532	ENSG00000164532		"""T-boxes"""	11598	protein-coding gene	gene with protein product		606061				10936053	Standard	NM_001077653		Approved		uc011kas.2	Q9UMR3	OTTHUMG00000099411	ENST00000408931.3:c.1230C>A	7.37:g.35242156G>T							p.G410G	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			8	1241	-			410					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.1230C>A	CCDS43568.1																																																																																				PASS	0.557	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		17	40	17	40	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43485045	43485045	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:43485045G>A	ENST00000395891.2	+	11	2879	c.2274G>A	c.(2272-2274)ctG>ctA	p.L758L	HECW1_ENST00000453890.1_Silent_p.L758L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	758					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L758L(1)|p.L737L(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCCTGAGCTGGACCCGGAGT	0.657																																						uc003tid.1																			2	Substitution - coding silent(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(2272-2274)CTG>CTA		NEDD4-like ubiquitin-protein ligase 1							35.0	39.0	38.0					7																	43485045		1993	4144	6137	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43485045G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2274G>A	7.37:g.43485045G>A						HECW1_uc011kbi.1_Silent_p.L758L	p.L758L	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2879	+			758					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.2274G>A	CCDS5469.2																																																																																				PASS	0.657	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		40	82	40	82	---	---	---	---
SUN3	256979	broad.mit.edu	37	7	48046905	48046905	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:48046905C>T	ENST00000297325.4	-	5	508	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	SUN3_ENST00000412142.1_Missense_Mutation_p.E17K|SUN3_ENST00000453192.2_Missense_Mutation_p.E105K|SUN3_ENST00000395572.2_Missense_Mutation_p.E117K	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	117						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)		p.E117K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAATTGTTTTCCAGATTCTGG	0.413																																						uc003tof.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(349-351)GAA>AAA		Sad1 and UNC84 domain containing 1							84.0	82.0	82.0					7																	48046905		2203	4300	6503	SO:0001583	missense	256979					integral to membrane		g.chr7:48046905C>T	AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.349G>A	7.37:g.48046905C>T	ENSP00000297325:p.Glu117Lys					SUN3_uc010kyq.2_Missense_Mutation_p.E17K|SUN3_uc003tog.2_Missense_Mutation_p.E117K|SUN3_uc011kcf.1_Missense_Mutation_p.E105K	p.E117K	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN			6	446	-			117			Potential.		A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	c.349G>A	CCDS34636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.20|15.20	2.764057|2.764057	0.49574|0.49574	.|.	.|.	ENSG00000164744|ENSG00000164744	ENST00000297325;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771|ENST00000453071	T;T;T;T;T|.	0.23552|.	1.9;1.94;1.9;2.51;1.94|.	5.56|5.56	4.67|4.67	0.58626|0.58626	.|.	0.292488|.	0.33364|.	N|.	0.004990|.	T|.	0.37461|.	0.1004|.	N|N	0.24115|0.24115	0.695|0.695	0.32696|0.32696	N|N	0.513506|0.513506	B;P;P|.	0.48503|.	0.026;0.565;0.911|.	B;B;B|.	0.39185|.	0.018;0.168;0.293|.	T|.	0.42982|.	-0.9419|.	10|.	0.46703|.	T|.	0.11|.	.|.	9.3566|9.3566	0.38171|0.38171	0.0:0.9055:0.0:0.0945|0.0:0.9055:0.0:0.0945	.|.	105;17;117|.	E7EWC8;Q8TAQ9-2;Q8TAQ9|.	.;.;SUN3_HUMAN|.	K|X	117;17;117;105;17|36	ENSP00000297325:E117K;ENSP00000410204:E17K;ENSP00000378939:E117K;ENSP00000387525:E105K;ENSP00000409077:E17K|.	ENSP00000297325:E117K|.	E|W	-|-	1|3	0|0	SUN3|SUN3	48013430|48013430	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.872000|0.872000	0.50106|0.50106	1.321000|1.321000	0.33678|0.33678	2.613000|2.613000	0.88420|0.88420	0.655000|0.655000	0.94253|0.94253	GAA|TGG		PASS	0.413	SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782		46	120	46	120	---	---	---	---
DDC	1644	broad.mit.edu	37	7	50571751	50571751	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:50571751C>A	ENST00000444124.2	-	7	921	c.721G>T	c.(721-723)Gcc>Tcc	p.A241S	DDC_ENST00000357936.5_Missense_Mutation_p.A241S|DDC_ENST00000431062.1_Missense_Mutation_p.A148S|DDC_ENST00000380984.4_Missense_Mutation_p.A241S|DDC_ENST00000426377.1_Missense_Mutation_p.A163S	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	241					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)	p.A241S(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	CCCAGGGTGGCAACCATCTAG	0.488																																						uc003tpf.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(721-723)GCC>TCC		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						113.0	116.0	115.0					7																	50571751		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50571751C>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.721G>T	7.37:g.50571751C>A	ENSP00000403644:p.Ala241Ser					DDC_uc010kza.2_Missense_Mutation_p.A156S|DDC_uc003tpg.3_Missense_Mutation_p.A241S	p.A241S	NM_000790	NP_000781	P20711	DDC_HUMAN			7	807	-	Glioma(55;0.08)|all_neural(89;0.245)		241					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.721G>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.60|12.60	1.986592|1.986592	0.35036|0.35036	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124;ENST00000380984|ENST00000430300	T;T;T;T;T|.	0.55052|.	0.54;0.54;0.54;0.54;0.54|.	5.83|5.83	4.95|4.95	0.65309|0.65309	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.095675|.	0.64402|.	D|.	0.000001|.	T|T	0.76637|0.76637	0.4015|0.4015	M|M	0.86028|0.86028	2.79|2.79	0.38965|0.38965	D|D	0.958621|0.958621	P;P|.	0.35612|.	0.512;0.512|.	P;P|.	0.55824|.	0.785;0.785|.	T|T	0.80681|0.80681	-0.1274|-0.1274	10|5	0.72032|.	D|.	0.01|.	-7.0763|-7.0763	12.0799|12.0799	0.53665|0.53665	0.0:0.9191:0.0:0.0809|0.0:0.9191:0.0:0.0809	.|.	241;241|.	Q53Y41;P20711|.	.;DDC_HUMAN|.	S|F	241;148;163;241;241|121	ENSP00000350616:A241S;ENSP00000399184:A148S;ENSP00000395069:A163S;ENSP00000403644:A241S;ENSP00000370371:A241S|.	ENSP00000350616:A241S|.	A|L	-|-	1|3	0|2	DDC|DDC	50539245|50539245	0.972000|0.972000	0.33761|0.33761	0.010000|0.010000	0.14722|0.14722	0.134000|0.134000	0.20937|0.20937	3.827000|3.827000	0.55745|0.55745	1.457000|1.457000	0.47850|0.47850	0.655000|0.655000	0.94253|0.94253	GCC|TTG		PASS	0.488	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			40	177	40	177	---	---	---	---
CCT6A	908	broad.mit.edu	37	7	56130730	56130730	+	Silent	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:56130730C>G	ENST00000275603.4	+	14	1767	c.1548C>G	c.(1546-1548)ctC>ctG	p.L516L	SUMF2_ENST00000437307.2_5'Flank|SUMF2_ENST00000275607.9_5'Flank|CCT6A_ENST00000335503.3_Silent_p.L471L|SUMF2_ENST00000395435.2_5'Flank|SNORA15_ENST00000384439.1_RNA|SUMF2_ENST00000395436.2_5'Flank|SUMF2_ENST00000413756.1_5'Flank|CCT6A_ENST00000462133.1_3'UTR|CCT6A_ENST00000540286.1_Silent_p.L485L|SUMF2_ENST00000434526.2_5'Flank|SUMF2_ENST00000342190.6_5'Flank	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	516					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.L516L(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCAACATTCTCTTGGTTGATG	0.443																																						uc003trl.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1546-1548)CTC>CTG		chaperonin containing TCP1, subunit 6A isoform							155.0	141.0	146.0					7																	56130730		2203	4300	6503	SO:0001819	synonymous_variant	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56130730C>G	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1548C>G	7.37:g.56130730C>G						PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Silent_p.L471L|CCT6A_uc011kcu.1_Silent_p.L485L|SUMF2_uc003tro.2_5'Flank|SUMF2_uc011kcv.1_5'Flank|SUMF2_uc011kcw.1_5'Flank|SUMF2_uc011kcx.1_5'Flank|SUMF2_uc003trv.2_5'Flank|SUMF2_uc003trt.2_5'Flank|SUMF2_uc011kcy.1_5'Flank|SUMF2_uc011kcz.1_5'Flank|SUMF2_uc003tru.2_5'Flank|SUMF2_uc011kda.1_5'Flank|SUMF2_uc003trx.2_5'Flank	p.L516L	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		14	1712	+	Breast(14;0.214)		516					A6NCD2|Q3KP28|Q75LP4|Q96S46	Silent	SNP	ENST00000275603.4	37	c.1548C>G	CCDS5523.1																																																																																				PASS	0.443	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		49	550	49	550	---	---	---	---
KRIT1	889	broad.mit.edu	37	7	91864747	91864747	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:91864747C>G	ENST00000340022.2	-	8	1717	c.699G>C	c.(697-699)ttG>ttC	p.L233F	KRIT1_ENST00000394507.1_Missense_Mutation_p.L233F|KRIT1_ENST00000412043.2_Missense_Mutation_p.L233F|KRIT1_ENST00000394505.2_Missense_Mutation_p.L233F|KRIT1_ENST00000394503.2_Missense_Mutation_p.L233F	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	233					angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.L233F(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGATCCAAACAAAGGGTTGT	0.343																																						uc003ulq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3	GRCh37	CD001474	KRIT1	D		c.(697-699)TTG>TTC		krev interaction trapped 1 isoform 1							143.0	150.0	148.0					7																	91864747		2203	4300	6503	SO:0001583	missense	889	Familial_Cerebral_Cavernous_Angioma			angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity	g.chr7:91864747C>G	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.699G>C	7.37:g.91864747C>G	ENSP00000344668:p.Leu233Phe					KRIT1_uc010lev.1_Missense_Mutation_p.L26F|KRIT1_uc003ulr.1_Missense_Mutation_p.L233F|KRIT1_uc003uls.1_Missense_Mutation_p.L233F|KRIT1_uc003ult.1_Missense_Mutation_p.L233F|KRIT1_uc003ulu.1_Missense_Mutation_p.L233F|KRIT1_uc003ulv.1_Missense_Mutation_p.L233F	p.L233F	NM_194456	NP_919438	O00522	KRIT1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		6	870	-	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		233					A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	c.699G>C	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.469445	0.63625	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503;ENST00000415227;ENST00000458177	T;T;T;T;T;D	0.91996	0.7;0.7;0.7;0.7;-0.9;-2.95	5.21	1.33	0.21861	.	0.000000	0.64402	D	0.000001	D	0.93497	0.7925	L	0.53249	1.67	0.53688	D	0.999978	D;D;D	0.71674	0.998;0.987;0.998	D;P;D	0.75484	0.986;0.648;0.986	D	0.91822	0.5468	10	0.72032	D	0.01	-6.2261	9.8626	0.41123	0.0:0.6535:0.0:0.3465	.	233;233;233	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	F	233	ENSP00000378015:L233F;ENSP00000344668:L233F;ENSP00000410909:L233F;ENSP00000378013:L233F;ENSP00000378011:L233F;ENSP00000391675:L233F	ENSP00000344668:L233F	L	-	3	2	KRIT1	91702683	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.473000	0.22132	0.209000	0.20645	0.460000	0.39030	TTG		PASS	0.343	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			9	144	9	144	---	---	---	---
CCDC132	55610	broad.mit.edu	37	7	92970853	92970853	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:92970853G>A	ENST00000305866.5	+	23	2301	c.2173G>A	c.(2173-2175)Ggg>Agg	p.G725R	CCDC132_ENST00000541136.1_Missense_Mutation_p.G536R|CCDC132_ENST00000535481.1_Missense_Mutation_p.G445R|CCDC132_ENST00000544910.1_Missense_Mutation_p.G695R|CCDC132_ENST00000474412.1_3'UTR	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	725						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)		p.G725R(1)		endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TACGCTGTATGGGTTGGCAGA	0.433																																						uc003umo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2173-2175)GGG>AGG		coiled-coil domain containing 132 isoform a							129.0	137.0	135.0					7																	92970853		1950	4154	6104	SO:0001583	missense	55610							g.chr7:92970853G>A	AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.2173G>A	7.37:g.92970853G>A	ENSP00000307666:p.Gly725Arg					CCDC132_uc003umq.2_RNA|CCDC132_uc003ump.2_Missense_Mutation_p.G695R|CCDC132_uc003umr.2_RNA|CCDC132_uc011khz.1_Missense_Mutation_p.G445R	p.G725R	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		23	2301	+	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		725					B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Missense_Mutation	SNP	ENST00000305866.5	37	c.2173G>A	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665282	0.88251	.	.	ENSG00000004766	ENST00000305866;ENST00000544910;ENST00000541136;ENST00000535481	.	.	.	5.69	5.69	0.88448	Protein of unknown function DUF2451, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84822	0.5557	M	0.86097	2.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.86044	0.1521	9	0.87932	D	0	-16.4396	20.2084	0.98285	0.0:0.0:1.0:0.0	.	445;695;725	B4DS55;F5H5U7;Q96JG6	.;.;CC132_HUMAN	R	725;695;536;445	.	ENSP00000307666:G725R	G	+	1	0	CCDC132	92808789	1.000000	0.71417	1.000000	0.80357	0.454000	0.32378	9.795000	0.99099	2.865000	0.98341	0.655000	0.94253	GGG		PASS	0.433	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667		56	132	56	132	---	---	---	---
PON1	5444	broad.mit.edu	37	7	94947701	94947701	+	Nonsense_Mutation	SNP	G	G	A	rs565598241		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:94947701G>A	ENST00000222381.3	-	2	310	c.79C>T	c.(79-81)Cga>Tga	p.R27*	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	27					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)	p.R27*(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	GCATTAAGTCGTGTTCTGTGG	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		17889	0.001		0.0	False		,,,				2504	0.0				GBM(119;715 1622 17358 22490 33240)	uc003uns.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(79-81)CGA>TGA		paraoxonase 1 precursor	Atorvastatin(DB01076)|Cefazolin(DB01327)						78.0	81.0	80.0					7																	94947701		2203	4300	6503	SO:0001587	stop_gained	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94947701G>A	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.79C>T	7.37:g.94947701G>A	ENSP00000222381:p.Arg27*					PON1_uc011kih.1_Intron	p.R27*	NM_000446	NP_000437	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		2	176	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		27					B2RA40|Q16052|Q6B0J6|Q9UCB1	Nonsense_Mutation	SNP	ENST00000222381.3	37	c.79C>T	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	G	36	5.772502	0.96922	.	.	ENSG00000005421	ENST00000222381	.	.	.	4.37	2.27	0.28462	.	0.121063	0.53938	D	0.000047	.	.	.	.	.	.	0.51012	D	0.999901	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.3247	13.2312	0.59945	0.0:0.0:0.4273:0.5727	.	.	.	.	X	27	.	ENSP00000222381:R27X	R	-	1	2	PON1	94785637	0.532000	0.26346	0.148000	0.22405	0.351000	0.29236	1.682000	0.37628	0.562000	0.29204	0.650000	0.86243	CGA		PASS	0.388	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		6	61	6	61	---	---	---	---
TAF6	6878	broad.mit.edu	37	7	99711348	99711348	+	Silent	SNP	G	G	A	rs187950687	byFrequency	TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr7:99711348G>A	ENST00000344095.4	-	4	813	c.288C>T	c.(286-288)ttC>ttT	p.F96F	TAF6_ENST00000418432.2_Silent_p.F39F|TAF6_ENST00000452041.1_Silent_p.F96F|RP11-506M12.1_ENST00000494221.1_RNA|TAF6_ENST00000472509.1_Silent_p.F153F|TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000453269.2_Silent_p.F96F|TAF6_ENST00000437822.2_Silent_p.F133F	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	96					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F96F(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCAGAGGCGAAGCGGAAAG	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		16537	0.003		0.0	False		,,,				2504	0.0					uc003uti.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(286-288)TTC>TTT		TBP-associated factor 6 isoform alpha							42.0	44.0	43.0					7																	99711348		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99711348G>A		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.288C>T	7.37:g.99711348G>A						TAF6_uc003utg.2_Silent_p.F37F|TAF6_uc003uth.2_Silent_p.F153F|TAF6_uc003utk.2_Silent_p.F96F|TAF6_uc011kji.1_Silent_p.F133F|TAF6_uc003utj.2_Silent_p.F86F|TAF6_uc003utl.2_Silent_p.F96F|TAF6_uc003utm.2_Silent_p.F96F|TAF6_uc003utn.1_RNA	p.F96F	NM_139315	NP_647476	P49848	TAF6_HUMAN			4	369	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		96					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.288C>T	CCDS5686.1																																																																																				PASS	0.597	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641		37	53	37	53	---	---	---	---
SLC20A2	6575	broad.mit.edu	37	8	42297058	42297058	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr8:42297058C>T	ENST00000342228.3	-	7	1213	c.844G>A	c.(844-846)Gac>Aac	p.D282N	SLC20A2_ENST00000520262.1_Missense_Mutation_p.D282N|SLC20A2_ENST00000520179.1_Missense_Mutation_p.D282N	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	282					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)	p.D282N(1)		breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			ATGGTGCTGTCATCATTAGCC	0.557																																						uc010lxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(844-846)GAC>AAC		solute carrier family 20, member 2							158.0	142.0	147.0					8																	42297058		2203	4300	6503	SO:0001583	missense	6575				interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr8:42297058C>T		CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.844G>A	8.37:g.42297058C>T	ENSP00000340465:p.Asp282Asn					SLC20A2_uc010lxm.2_Missense_Mutation_p.D282N|SLC20A2_uc003xpe.2_Missense_Mutation_p.D282N|SLC20A2_uc011lcu.1_Missense_Mutation_p.D84N	p.D282N	NM_006749	NP_006740	Q08357	S20A2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)		7	1538	-	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	282			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000342228.3	37	c.844G>A	CCDS6132.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966856	0.34659	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90324	-2.65;-2.65;-2.65	6.06	5.19	0.71726	.	0.196538	0.53938	N	0.000051	T	0.82254	0.4997	N	0.20986	0.625	0.48975	D	0.999735	B	0.02656	0.0	B	0.09377	0.004	T	0.75739	-0.3212	10	0.09843	T	0.71	-41.839	12.9008	0.58125	0.0:0.9223:0.0:0.0777	.	282	Q08357	S20A2_HUMAN	N	282	ENSP00000340465:D282N;ENSP00000429754:D282N;ENSP00000429712:D282N	ENSP00000340465:D282N	D	-	1	0	SLC20A2	42416215	0.997000	0.39634	0.913000	0.36048	0.015000	0.08874	3.451000	0.52964	1.577000	0.49804	0.650000	0.86243	GAC		PASS	0.557	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377578.1			19	224	19	224	---	---	---	---
STAU2	27067	broad.mit.edu	37	8	74516011	74516011	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr8:74516011C>A	ENST00000521451.1	-	5	695	c.319G>T	c.(319-321)Gtt>Ttt	p.V107F	STAU2_ENST00000517542.1_Missense_Mutation_p.V289F|STAU2_ENST00000524300.1_Missense_Mutation_p.V327F|STAU2_ENST00000519961.1_Missense_Mutation_p.V327F|STAU2_ENST00000522695.1_Missense_Mutation_p.V295F|STAU2_ENST00000355780.5_Missense_Mutation_p.V295F|STAU2_ENST00000523558.1_Missense_Mutation_p.V155F|STAU2_ENST00000522509.1_Missense_Mutation_p.V295F|STAU2_ENST00000521210.1_Missense_Mutation_p.V223F|STAU2_ENST00000521727.1_Missense_Mutation_p.V307F			Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	327	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)	p.V223F(1)|p.V295F(1)|p.V327F(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GAAAGCAAAACATAATCCGGC	0.413																																						uc003xzm.2																			3	Substitution - Missense(3)		lung(3)		0						c.(979-981)GTT>TTT		staufen homolog 2 isoform e							79.0	77.0	78.0					8																	74516011		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74516011C>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000521451.1:c.319G>T	8.37:g.74516011C>A	ENSP00000428476:p.Val107Phe					STAU2_uc011lfg.1_Missense_Mutation_p.V155F|STAU2_uc003xzn.2_Missense_Mutation_p.V295F|STAU2_uc011lfh.1_Missense_Mutation_p.V223F|STAU2_uc003xzo.2_Missense_Mutation_p.V327F|STAU2_uc003xzp.2_Missense_Mutation_p.V295F|STAU2_uc011lfi.1_Missense_Mutation_p.V289F|STAU2_uc003xzq.2_Missense_Mutation_p.V107F|STAU2_uc010lzk.2_Missense_Mutation_p.V295F|STAU2_uc010lzl.1_Missense_Mutation_p.V155F	p.V327F	NM_014393	NP_055208	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		10	1215	-	Breast(64;0.0138)		327			DRBM 4.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000521451.1	37	c.979G>T		.	.	.	.	.	.	.	.	.	.	C	15.53	2.859715	0.51376	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000521451;ENST00000522509;ENST00000517542;ENST00000518767	T;T;T;T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;-1.11	5.73	2.26	0.28386	.	0.355560	0.30269	N	0.010005	T	0.64594	0.2612	L	0.33485	1.01	0.58432	D	0.999999	P;P;B;P;B;B;P;P	0.45986	0.642;0.748;0.177;0.87;0.435;0.174;0.491;0.475	B;B;B;B;B;B;B;B	0.43575	0.185;0.424;0.049;0.424;0.116;0.178;0.326;0.222	T	0.60939	-0.7163	10	0.56958	D	0.05	-41.0285	3.6628	0.08245	0.1237:0.582:0.12:0.1743	.	307;223;155;223;295;327;295;327	E7EPX0;E9PEI3;E7ER74;B7Z8B4;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.;.	F	295;327;155;223;295;327;307;107;295;289;155	ENSP00000428456:V295F;ENSP00000428756:V327F;ENSP00000428741:V155F;ENSP00000429173:V223F;ENSP00000348026:V295F;ENSP00000430907:V327F;ENSP00000429973:V307F;ENSP00000428476:V107F;ENSP00000427977:V295F;ENSP00000431111:V289F;ENSP00000429005:V155F	ENSP00000344030:V155F	V	-	1	0	STAU2	74678565	0.977000	0.34250	0.997000	0.53966	0.994000	0.84299	0.151000	0.16283	0.503000	0.28060	0.585000	0.79938	GTT		PASS	0.413	STAU2-006	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000379006.4	NM_001164380		27	95	27	95	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103340026	103340026	+	Silent	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr8:103340026A>T	ENST00000520539.1	-	12	2031	c.1425T>A	c.(1423-1425)tcT>tcA	p.S475S	UBR5_ENST00000220959.4_Silent_p.S475S|UBR5_ENST00000521922.1_Silent_p.S469S	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	475					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.S475S(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AGCAATGTAAAGAAACTATCC	0.433																																					Ovarian(131;96 1741 5634 7352 27489)	uc003ykr.1																			1	Substitution - coding silent(1)		lung(1)	lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	28						c.(1423-1425)TCT>TCA		ubiquitin protein ligase E3 component n-recognin							127.0	119.0	122.0					8																	103340026		2203	4300	6503	SO:0001819	synonymous_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103340026A>T	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1425T>A	8.37:g.103340026A>T						UBR5_uc003yks.1_Silent_p.S475S	p.S475S	NM_015902	NP_056986	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		12	1458	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		475					B2RP24|J3KMW7|O94970|Q9NPL3	Silent	SNP	ENST00000520539.1	37	c.1425T>A	CCDS34933.1																																																																																				PASS	0.433	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		16	181	16	181	---	---	---	---
ZFPM2	23414	broad.mit.edu	37	8	106815442	106815442	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr8:106815442G>A	ENST00000407775.2	+	8	3382	c.3132G>A	c.(3130-3132)gtG>gtA	p.V1044V	RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.V912V|ZFPM2_ENST00000378472.4_Silent_p.V775V|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.V912V	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1044					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.V1044V(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGTAATAGTGAATGGTGGAC	0.473																																						uc003ymd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)	5						c.(3130-3132)GTG>GTA		zinc finger protein, multitype 2							67.0	67.0	67.0					8																	106815442		1973	4176	6149	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815442G>A	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3132G>A	8.37:g.106815442G>A						ZFPM2_uc011lhs.1_Silent_p.V775V	p.V1044V	NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	3155	+			1044					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.3132G>A	CCDS47908.1																																																																																				PASS	0.473	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			24	43	24	43	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110504122	110504122	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr8:110504122G>A	ENST00000378402.5	+	62	10239	c.10135G>A	c.(10135-10137)Gcc>Acc	p.A3379T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3379					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.A3381T(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGGGGGAATGCCAACCGAGT	0.378										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(10135-10137)GCC>ACC		fibrocystin L precursor							40.0	41.0	41.0					8																	110504122		1815	4071	5886	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110504122G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10135G>A	8.37:g.110504122G>A	ENSP00000367655:p.Ala3379Thr	HNSCC(38;0.096)					p.A3379T	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		62	10239	+			3379			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.10135G>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828592	0.32329	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.85484	-1.99;-1.84	5.61	4.74	0.60224	Pectin lyase fold/virulence factor (1);	0.475840	0.22396	N	0.060607	T	0.72162	0.3426	N	0.24115	0.695	0.22017	N	0.999417	B	0.14805	0.011	B	0.12837	0.008	T	0.54866	-0.8229	10	0.13853	T	0.58	.	8.2586	0.31771	0.0836:0.1564:0.76:0.0	.	3379	Q86WI1	PKHL1_HUMAN	T	3379;307	ENSP00000367655:A3379T;ENSP00000437376:A307T	ENSP00000367655:A3379T	A	+	1	0	PKHD1L1	110573298	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	3.465000	0.53064	1.365000	0.46057	0.563000	0.77884	GCC		PASS	0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		6	7	6	7	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164580	139164580	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr8:139164580A>G	ENST00000395297.1	-	13	2308	c.2138T>C	c.(2137-2139)gTc>gCc	p.V713A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	713								p.V713A(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CGGGTGCAAGACTTCCCGATC	0.552										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)	9						c.(2137-2139)GTC>GCC		hypothetical protein LOC51059							45.0	46.0	46.0					8																	139164580		1961	4139	6100	SO:0001583	missense	51059							g.chr8:139164580A>G	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2138T>C	8.37:g.139164580A>G	ENSP00000378710:p.Val713Ala	HNSCC(54;0.14)				FAM135B_uc003yux.2_Missense_Mutation_p.V614A|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.V275A|FAM135B_uc003yvb.2_Missense_Mutation_p.V275A	p.V713A	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2309	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		713					B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	ENST00000395297.1	37	c.2138T>C	CCDS6375.2	.	.	.	.	.	.	.	.	.	.	A	13.07	2.127563	0.37533	.	.	ENSG00000147724	ENST00000395297	T	0.13778	2.56	5.65	-1.01	0.10169	.	0.471656	0.22348	N	0.061244	T	0.08582	0.0213	L	0.48362	1.52	0.09310	N	0.999997	B;B;B	0.14438	0.01;0.01;0.001	B;B;B	0.13407	0.006;0.009;0.002	T	0.41538	-0.9503	10	0.09590	T	0.72	-6.8215	5.4198	0.16394	0.5422:0.2527:0.2051:0.0	.	713;713;713	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	A	713	ENSP00000378710:V713A	ENSP00000276737:V713A	V	-	2	0	FAM135B	139233762	0.179000	0.23135	0.015000	0.15790	0.838000	0.47535	3.079000	0.50104	-0.149000	0.11215	0.533000	0.62120	GTC		PASS	0.552	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		22	114	22	114	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79836154	79836154	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr9:79836154G>T	ENST00000360280.3	+	13	1303	c.1043G>T	c.(1042-1044)tGg>tTg	p.W348L	VPS13A_ENST00000376634.4_Missense_Mutation_p.W348L|VPS13A_ENST00000357409.5_Missense_Mutation_p.W348L|VPS13A_ENST00000376636.3_Missense_Mutation_p.W348L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	348					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)		p.W348L(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCCAGGTTATGGATGTGGTCA	0.348																																						uc004akr.2																			3	Substitution - Missense(3)		lung(3)	pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(1042-1044)TGG>TTG		vacuolar protein sorting 13A isoform A							151.0	148.0	149.0					9																	79836154		2203	4300	6503	SO:0001583	missense	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79836154G>T	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.1043G>T	9.37:g.79836154G>T	ENSP00000353422:p.Trp348Leu					VPS13A_uc004akp.3_Missense_Mutation_p.W348L|VPS13A_uc004akq.3_Missense_Mutation_p.W348L|VPS13A_uc004aks.2_Missense_Mutation_p.W348L	p.W348L	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			13	1303	+			348					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	37	c.1043G>T	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268823	0.40095	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.44482	1.09;0.92;1.0;1.09	6.03	3.09	0.35607	.	0.478162	0.22381	N	0.060810	T	0.18341	0.0440	N	0.03608	-0.345	0.80722	D	1	B;B;B;B	0.09022	0.001;0.0;0.002;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.03784	-1.1004	10	0.32370	T	0.25	.	7.8298	0.29336	0.4586:0.0:0.5414:0.0	.	348;348;348;348	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	L	348	ENSP00000365821:W348L;ENSP00000365823:W348L;ENSP00000353422:W348L;ENSP00000349985:W348L	ENSP00000349985:W348L	W	+	2	0	VPS13A	79025974	1.000000	0.71417	0.994000	0.49952	0.808000	0.45660	1.702000	0.37836	0.808000	0.34231	0.655000	0.94253	TGG		PASS	0.348	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		4	155	4	155	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101817581	101817581	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr9:101817581G>T	ENST00000375001.3	+	34	3542	c.3119G>T	c.(3118-3120)gGa>gTa	p.G1040V		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1040	Triple-helical region 7 (COL7).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.G1040V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGTGAAAAAGGAGAAAAAGGA	0.498																																						uc004azb.1																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(3118-3120)GGA>GTA		alpha 1 type XV collagen precursor							86.0	89.0	88.0					9																	101817581		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101817581G>T	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.3119G>T	9.37:g.101817581G>T	ENSP00000364140:p.Gly1040Val						p.G1040V	NM_001855	NP_001846	P39059	COFA1_HUMAN			34	3325	+		Acute lymphoblastic leukemia(62;0.0562)	1040			Triple-helical region 7 (COL7).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.3119G>T	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.373694	0.61624	.	.	ENSG00000204291	ENST00000375001	D	0.97906	-4.6	5.73	5.73	0.89815	.	0.118364	0.64402	N	0.000017	D	0.99099	0.9690	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99368	1.0919	10	0.72032	D	0.01	-4.2123	16.8192	0.85741	0.0:0.0:1.0:0.0	.	1040	P39059	COFA1_HUMAN	V	1040	ENSP00000364140:G1040V	ENSP00000364140:G1040V	G	+	2	0	COL15A1	100857402	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	5.591000	0.67536	2.722000	0.93159	0.655000	0.94253	GGA		PASS	0.498	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		36	128	36	128	---	---	---	---
MUSK	4593	broad.mit.edu	37	9	113431191	113431191	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr9:113431191G>A	ENST00000374448.4	+	1	141	c.7G>A	c.(7-9)Gag>Aag	p.E3K	MUSK_ENST00000416899.2_Missense_Mutation_p.E3K|MUSK_ENST00000189978.5_Missense_Mutation_p.E3K|MUSK_ENST00000374440.3_5'UTR	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	3					cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E3K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						AATCATGAGAGAGCTCGTCAA	0.433																																						uc004bey.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(7-9)GAG>AAG		skeletal muscle receptor tyrosine kinase							295.0	283.0	287.0					9																	113431191		1919	4139	6058	SO:0001583	missense	4593				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:113431191G>A	AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.7G>A	9.37:g.113431191G>A	ENSP00000363571:p.Glu3Lys					MUSK_uc004bex.2_Missense_Mutation_p.E3K	p.E3K	NM_005592	NP_005583	O15146	MUSK_HUMAN			1	105	+			3					Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	ENST00000374448.4	37	c.7G>A	CCDS48005.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918763	0.73098	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000416899	T	0.73897	-0.79	5.18	5.18	0.71444	.	0.275097	0.29389	N	0.012290	T	0.64538	0.2607	N	0.08118	0	0.80722	D	1	B;P	0.47253	0.363;0.892	B;P	0.47251	0.081;0.542	T	0.71984	-0.4427	10	0.56958	D	0.05	.	17.2813	0.87129	0.0:0.0:1.0:0.0	.	3;3	O15146;F5H6T2	MUSK_HUMAN;.	K	3	ENSP00000363571:E3K	ENSP00000189978:E3K	E	+	1	0	MUSK	112471012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.812000	0.62613	2.437000	0.82529	0.557000	0.71058	GAG		PASS	0.433	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	603	7	603	---	---	---	---
ZNF618	114991	broad.mit.edu	37	9	116812085	116812085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr9:116812085G>T	ENST00000374126.5	+	15	2602	c.2503G>T	c.(2503-2505)Gag>Tag	p.E835*	ZNF618_ENST00000288466.7_Nonsense_Mutation_p.E742*|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	835					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E742*(1)|p.E752*(1)|p.E835*(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCTCATCAACGAGGTGAAGGA	0.637																																						uc004bid.2																			3	Substitution - Nonsense(3)		lung(3)		0						c.(2503-2505)GAG>TAG		zinc finger protein 618							61.0	68.0	65.0					9																	116812085		2062	4182	6244	SO:0001587	stop_gained	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116812085G>T	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.2503G>T	9.37:g.116812085G>T	ENSP00000363241:p.Glu835*					ZNF618_uc004bic.2_Nonsense_Mutation_p.E742*|ZNF618_uc011lxi.1_Nonsense_Mutation_p.E802*|ZNF618_uc011lxj.1_Nonsense_Mutation_p.E803*|ZNF618_uc010mvb.2_Nonsense_Mutation_p.E425*	p.E835*	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			15	2602	+			835					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Nonsense_Mutation	SNP	ENST00000374126.5	37	c.2503G>T		.	.	.	.	.	.	.	.	.	.	G	37	6.021029	0.97211	.	.	ENSG00000157657	ENST00000374126;ENST00000288466	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-35.4021	19.0349	0.92972	0.0:0.0:1.0:0.0	.	.	.	.	X	835;742	.	ENSP00000288466:E742X	E	+	1	0	ZNF618	115851906	1.000000	0.71417	0.971000	0.41717	0.655000	0.38815	6.915000	0.75770	2.815000	0.96918	0.561000	0.74099	GAG		PASS	0.637	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983		47	105	47	105	---	---	---	---
FBXW5	54461	broad.mit.edu	37	9	139835842	139835842	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr9:139835842C>T	ENST00000325285.3	-	8	1397	c.1318G>A	c.(1318-1320)Gcg>Acg	p.A440T	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	440					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)	p.A440T(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		ATCTCCTCCGCGATTGGTGGC	0.667																																						uc004cjx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1318-1320)GCG>ACG		F-box and WD repeat domain containing 5							37.0	37.0	37.0					9																	139835842		2201	4297	6498	SO:0001583	missense	54461						catalytic activity|protein binding	g.chr9:139835842C>T	BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.1318G>A	9.37:g.139835842C>T	ENSP00000313034:p.Ala440Thr					FBXW5_uc010nbx.2_RNA|FBXW5_uc004cjy.2_Missense_Mutation_p.A188T|FBXW5_uc004cjz.2_Missense_Mutation_p.A170T	p.A440T	NM_018998	NP_061871	Q969U6	FBXW5_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)	8	1469	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	440					B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Missense_Mutation	SNP	ENST00000325285.3	37	c.1318G>A	CCDS7014.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600099	0.66332	.	.	ENSG00000159069	ENST00000325285	T	0.80738	-1.41	4.91	4.91	0.64330	WD40/YVTN repeat-like-containing domain (1);Soluble quinoprotein glucose/sorbosone dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.88607	0.6482	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;0.999	D;P	0.83275	0.996;0.845	D	0.89177	0.3541	10	0.54805	T	0.06	-7.1599	13.9143	0.63887	0.1527:0.8473:0.0:0.0	.	305;440	Q59ET5;Q969U6	.;FBXW5_HUMAN	T	440	ENSP00000313034:A440T	ENSP00000313034:A440T	A	-	1	0	FBXW5	138955663	1.000000	0.71417	0.968000	0.41197	0.048000	0.14542	5.482000	0.66833	2.286000	0.76751	0.561000	0.74099	GCG		PASS	0.667	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055227.1	NM_018998		6	33	6	33	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17146477	17146477	+	Missense_Mutation	SNP	G	G	C	rs368630481		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr10:17146477G>C	ENST00000377833.4	-	12	1423	c.1358C>G	c.(1357-1359)tCt>tGt	p.S453C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	453	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S453C(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAACTGAAAGAATCAACGCC	0.468																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(1357-1359)TCT>TGT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						164.0	118.0	133.0					10																	17146477		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17146477G>C	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1358C>G	10.37:g.17146477G>C	ENSP00000367064:p.Ser453Cys						p.S453C	NM_001081	NP_001072	O60494	CUBN_HUMAN			12	1410	-			453			EGF-like 7; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.1358C>G	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.188304	0.38609	.	.	ENSG00000107611	ENST00000377833	D	0.91996	-2.95	5.45	0.86	0.19042	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.899538	0.09307	N	0.820073	D	0.96188	0.8757	H	0.95470	3.675	0.36675	D	0.87873	P	0.46142	0.873	P	0.47744	0.556	D	0.96383	0.9283	10	0.62326	D	0.03	.	20.0746	0.97737	0.0:0.8148:0.1852:0.0	.	453	O60494	CUBN_HUMAN	C	453	ENSP00000367064:S453C	ENSP00000367064:S453C	S	-	2	0	CUBN	17186483	0.420000	0.25457	0.039000	0.18376	0.345000	0.29048	1.117000	0.31234	0.165000	0.19558	0.655000	0.94253	TCT		PASS	0.468	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		3	123	3	123	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55566745	55566745	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr10:55566745G>T	ENST00000373965.2	-	36	5043	c.4649C>A	c.(4648-4650)gCa>gAa	p.A1550E	PCDH15_ENST00000414778.1_Missense_Mutation_p.A1547E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.A1547E(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCATTCTGTGCAATATATAT	0.478										HNSCC(58;0.16)																												uc010qhq.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4642-4644)GCA>GAA		protocadherin 15 isoform CD3-1 precursor							80.0	74.0	76.0					10																	55566745		1568	3581	5149	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566745G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4649C>A	10.37:g.55566745G>T	ENSP00000363076:p.Ala1550Glu	HNSCC(58;0.16)				PCDH15_uc010qhr.1_Missense_Mutation_p.A1543E	p.A1548E	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN			36	5038	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4643C>A		.	.	.	.	.	.	.	.	.	.	G	21.4	4.142706	0.77888	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.61510	0.1;0.1	5.86	5.86	0.93980	.	.	.	.	.	T	0.75737	0.3890	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.76307	-0.3007	9	0.87932	D	0	.	19.797	0.96490	0.0:0.0:1.0:0.0	.	1541;1547	C6ZEF7;C9J4F3	.;.	E	1550;1547;1543	ENSP00000363076:A1550E;ENSP00000410304:A1547E	ENSP00000363076:A1550E	A	-	2	0	PCDH15	55236751	1.000000	0.71417	0.933000	0.37362	0.993000	0.82548	9.476000	0.97823	2.776000	0.95493	0.655000	0.94253	GCA		PASS	0.478	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		20	92	20	92	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582824	55582824	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr10:55582824G>A	ENST00000320301.6	-	33	5056	c.4662C>T	c.(4660-4662)ccC>ccT	p.P1554P	PCDH15_ENST00000437009.1_Silent_p.P1485P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P1531P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1551P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395432.2_Silent_p.P1514P|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000361849.3_Silent_p.P1556P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1554					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P1554P(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTGTATTTTGGGTGAAAATG	0.423										HNSCC(58;0.16)																												uc001jju.1																			2	Substitution - coding silent(2)		lung(2)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4660-4662)CCC>CCT		protocadherin 15 isoform CD1-4 precursor							84.0	89.0	87.0					10																	55582824		2203	4299	6502	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55582824G>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4662C>T	10.37:g.55582824G>A		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Silent_p.P1551P|PCDH15_uc010qhw.1_Silent_p.P1514P|PCDH15_uc010qhx.1_Silent_p.P1485P|PCDH15_uc010qhy.1_Silent_p.P1561P|PCDH15_uc010qhz.1_Silent_p.P1556P|PCDH15_uc010qia.1_Silent_p.P1534P|PCDH15_uc010qib.1_Silent_p.P1531P	p.P1554P	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	5057	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1554			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.4662C>T	CCDS7248.1																																																																																				PASS	0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		41	199	41	199	---	---	---	---
LRRTM3	347731	broad.mit.edu	37	10	68687433	68687433	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr10:68687433C>A	ENST00000361320.4	+	2	1337	c.759C>A	c.(757-759)agC>agA	p.S253R	CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	253					positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.S253R(2)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGACCTGGAGCTCCTTACAAA	0.483																																						uc001jmz.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(757-759)AGC>AGA		leucine rich repeat transmembrane neuronal 3							79.0	83.0	82.0					10																	68687433		2203	4300	6503	SO:0001583	missense	347731					integral to membrane		g.chr10:68687433C>A	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.759C>A	10.37:g.68687433C>A	ENSP00000355187:p.Ser253Arg					CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.S253R	p.S253R	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN			2	1309	+			253			Extracellular (Potential).		A8K2A3|Q2NKX7|Q6N0A3	Missense_Mutation	SNP	ENST00000361320.4	37	c.759C>A	CCDS7270.1	.	.	.	.	.	.	.	.	.	.	C	6.772	0.511406	0.12944	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	T	0.59364	0.27	5.76	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.44644	0.1303	N	0.25957	0.775	0.40737	D	0.982794	P;P	0.36392	0.473;0.551	B;B	0.41466	0.281;0.358	T	0.17930	-1.0353	10	0.26408	T	0.33	.	10.1499	0.42786	0.0:0.7191:0.0:0.2809	.	253;253	Q86VH5;Q86VH5-2	LRRT3_HUMAN;.	R	253	ENSP00000355187:S253R	ENSP00000355187:S253R	S	+	3	2	LRRTM3	68357439	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.040000	0.30278	0.070000	0.16634	0.650000	0.86243	AGC		PASS	0.483	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011		85	295	85	295	---	---	---	---
COL13A1	1305	broad.mit.edu	37	10	71678051	71678051	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr10:71678051G>A	ENST00000398978.3	+	19	1499	c.1007G>A	c.(1006-1008)gGa>gAa	p.G336E	COL13A1_ENST00000357811.3_Missense_Mutation_p.G314E|COL13A1_ENST00000398966.3_Missense_Mutation_p.G314E|COL13A1_ENST00000517713.1_Missense_Mutation_p.G314E|COL13A1_ENST00000398968.3_Missense_Mutation_p.G317E|COL13A1_ENST00000398971.3_Missense_Mutation_p.G336E|COL13A1_ENST00000522165.1_Missense_Mutation_p.G317E|COL13A1_ENST00000520267.1_Missense_Mutation_p.G279E|COL13A1_ENST00000356340.3_Missense_Mutation_p.G336E|COL13A1_ENST00000398973.3_Missense_Mutation_p.G336E|COL13A1_ENST00000398972.3_Missense_Mutation_p.G336E|COL13A1_ENST00000520133.1_Missense_Mutation_p.G285E|COL13A1_ENST00000398964.3_Missense_Mutation_p.G307E|COL13A1_ENST00000354547.3_Missense_Mutation_p.G314E|COL13A1_ENST00000398969.3_Missense_Mutation_p.G279E|COL13A1_ENST00000398974.3_Missense_Mutation_p.G324E	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.G319E(1)|p.G336E(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						GGGGCGCCCGGAATTGCCGTG	0.592																																						uc001jpr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1006-1008)GGA>GAA		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						46.0	48.0	47.0					10																	71678051		1871	4105	5976	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71678051G>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1007G>A	10.37:g.71678051G>A	ENSP00000381949:p.Gly336Glu					COL13A1_uc001jqj.1_Missense_Mutation_p.G336E|COL13A1_uc001jps.1_Missense_Mutation_p.G307E|COL13A1_uc001jpt.1_Missense_Mutation_p.G295E|COL13A1_uc001jpu.1_Missense_Mutation_p.G317E|COL13A1_uc001jpv.1_Missense_Mutation_p.G336E|COL13A1_uc001jpx.1_Missense_Mutation_p.G314E|COL13A1_uc001jpw.1_Missense_Mutation_p.G283E|COL13A1_uc001jpy.1_Missense_Mutation_p.G274E|COL13A1_uc001jpz.1_Missense_Mutation_p.G279E|COL13A1_uc001jqa.1_Missense_Mutation_p.G276E|COL13A1_uc001jqc.1_Missense_Mutation_p.G336E|COL13A1_uc001jqb.1_Missense_Mutation_p.G285E|COL13A1_uc001jql.2_Missense_Mutation_p.G336E|COL13A1_uc001jqd.1_Missense_Mutation_p.G324E|COL13A1_uc001jqe.1_Missense_Mutation_p.G319E|COL13A1_uc001jqf.1_Missense_Mutation_p.G317E|COL13A1_uc001jqg.1_Missense_Mutation_p.G314E|COL13A1_uc001jqh.1_Missense_Mutation_p.G336E|COL13A1_uc001jqi.1_Missense_Mutation_p.G336E|COL13A1_uc010qjf.1_Missense_Mutation_p.G126E|COL13A1_uc001jqk.1_Missense_Mutation_p.G174E	p.G336E	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			18	1543	+			336			Extracellular (Potential).|Triple-helical region 2 (COL2).			Missense_Mutation	SNP	ENST00000398978.3	37	c.1007G>A	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	G	12.37	1.917388	0.33815	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-4.64;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-4.64;-5.77;-5.77;-5.77;-5.77;-5.77	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000003	D	0.99579	0.9848	H	0.94925	3.6	0.53005	D	0.99996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996;0.999;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;0.984;0.984;0.999;0.99;0.998;0.984;0.957;0.976;1.0;0.985;0.984;0.975;0.976;0.96;0.975;0.973;0.99;0.96	D	0.97992	1.0355	10	0.87932	D	0	-0.1033	16.3354	0.83059	0.0:0.0:1.0:0.0	.	279;336;336;336;336;314;317;336;324;336;285;314;314;345;336;317;314;307;336	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	E	324;336;317;314;307;279;336;336;336;336;314;314;279;314;317;285	ENSP00000381946:G324E;ENSP00000381943:G336E;ENSP00000381940:G317E;ENSP00000381938:G314E;ENSP00000381936:G307E;ENSP00000381941:G279E;ENSP00000348695:G336E;ENSP00000381944:G336E;ENSP00000381945:G336E;ENSP00000381949:G336E;ENSP00000346553:G314E;ENSP00000350463:G314E;ENSP00000428057:G279E;ENSP00000430061:G314E;ENSP00000428342:G317E;ENSP00000430173:G285E	ENSP00000346553:G314E	G	+	2	0	COL13A1	71348057	1.000000	0.71417	0.172000	0.22920	0.374000	0.29953	5.572000	0.67411	2.613000	0.88420	0.655000	0.94253	GGA		PASS	0.592	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		17	53	17	53	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104171506	104171506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr10:104171506G>A	ENST00000020673.5	-	8	2426	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	PSD_ENST00000406432.1_Nonsense_Mutation_p.Q634*	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	634	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.Q419*(1)|p.Q634*(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AAGTATCGCTGGGAGAAGTGG	0.592																																						uc001kvg.1																			2	Substitution - Nonsense(2)		lung(2)	breast(2)|urinary_tract(1)	3						c.(1900-1902)CAG>TAG		pleckstrin and Sec7 domain containing							72.0	52.0	59.0					10																	104171506		2203	4300	6503	SO:0001587	stop_gained	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104171506G>A	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1900C>T	10.37:g.104171506G>A	ENSP00000020673:p.Gln634*					PSD_uc001kvf.1_5'Flank|PSD_uc001kvh.1_Nonsense_Mutation_p.Q255*|PSD_uc009xxd.1_Nonsense_Mutation_p.Q634*	p.Q634*	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	8	2427	-			634			SEC7.		B1AKX7|D3DR87|Q15673|Q8IVG0	Nonsense_Mutation	SNP	ENST00000020673.5	37	c.1900C>T	CCDS31272.1	.	.	.	.	.	.	.	.	.	.	G	45	11.695804	0.99592	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	.	.	.	5.28	4.35	0.52113	.	0.192214	0.45606	D	0.000345	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.9818	0.71316	0.0:0.0:0.8563:0.1437	.	.	.	.	X	634;537;634	.	ENSP00000020673:Q634X	Q	-	1	0	PSD	104161496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.071000	0.76770	1.176000	0.42840	0.556000	0.70494	CAG		PASS	0.592	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			6	55	6	55	---	---	---	---
FAM160B1	57700	broad.mit.edu	37	10	116596002	116596002	+	Silent	SNP	A	A	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr10:116596002A>G	ENST00000369248.4	+	5	854	c.519A>G	c.(517-519)ctA>ctG	p.L173L	FAM160B1_ENST00000369250.3_Silent_p.L173L	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	173								p.L173L(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTTTTTCCTAGAGGTATGAT	0.343																																						uc001lcb.2																			2	Substitution - coding silent(2)		lung(2)	lung(1)	1						c.(517-519)CTA>CTG		hypothetical protein LOC57700 isoform a							160.0	171.0	167.0					10																	116596002		2203	4300	6503	SO:0001819	synonymous_variant	57700							g.chr10:116596002A>G	AB046820	CCDS31290.1, CCDS44480.1	10q26.11	2008-06-05	2008-06-05	2008-06-05	ENSG00000151553	ENSG00000151553			29320	protein-coding gene	gene with protein product			"""KIAA1600"""	KIAA1600		10997877	Standard	NM_020940		Approved	bA106M7.3	uc001lcb.3	Q5W0V3	OTTHUMG00000019092	ENST00000369248.4:c.519A>G	10.37:g.116596002A>G						FAM160B1_uc001lcc.2_Silent_p.L173L	p.L173L	NM_020940	NP_065991	Q5W0V3	F16B1_HUMAN			5	854	+			173					Q5H9P7|Q5W0V2|Q8IY76|Q9HCH2	Silent	SNP	ENST00000369248.4	37	c.519A>G	CCDS31290.1																																																																																				PASS	0.343	FAM160B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050499.1	XM_049351		91	250	91	250	---	---	---	---
TCERG1L	256536	broad.mit.edu	37	10	133106502	133106502	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr10:133106502C>T	ENST00000368642.4	-	3	727	c.642G>A	c.(640-642)acG>acA	p.T214T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	214								p.T173T(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTAACACCACCGTGGGGAGCG	0.478																																						uc001lkp.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)	4						c.(640-642)ACG>ACA		transcription elongation regulator 1-like							49.0	48.0	48.0					10																	133106502		2203	4300	6503	SO:0001819	synonymous_variant	256536							g.chr10:133106502C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.642G>A	10.37:g.133106502C>T							p.T214T	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	3	728	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	214					Q5VWI2|Q86XM8	Silent	SNP	ENST00000368642.4	37	c.642G>A	CCDS7662.2																																																																																				PASS	0.478	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		11	33	11	33	---	---	---	---
JAKMIP3	282973	broad.mit.edu	37	10	133930716	133930716	+	Missense_Mutation	SNP	C	C	T	rs374779116		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr10:133930716C>T	ENST00000298622.4	+	2	409	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	91						Golgi apparatus (GO:0005794)		p.R91C(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACAGGCTGTGCGTGAGACGCT	0.607																																						uc001lkx.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(271-273)CGT>TGT		Janus kinase and microtubule interacting protein		C	CYS/ARG	0,4386		0,0,2193	48.0	58.0	55.0		271	4.5	1.0	10		55	2,8586		0,2,4292	no	missense	JAKMIP3	NM_001105521.2	180	0,2,6485	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	91/845	133930716	2,12972	2193	4294	6487	SO:0001583	missense	282973							g.chr10:133930716C>T	AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.271C>T	10.37:g.133930716C>T	ENSP00000298622:p.Arg91Cys						p.R91C	NM_001105521	NP_001098991				OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)	2	271	+		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)						A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	ENST00000298622.4	37	c.271C>T	CCDS44494.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585049	0.66105	0.0	2.33E-4	ENSG00000188385	ENST00000298622	T	0.59638	0.25	4.49	4.49	0.54785	.	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	M	0.67700	2.07	0.45995	D	0.998803	D	0.89917	1.0	D	0.87578	0.998	T	0.75207	-0.3399	10	0.72032	D	0.01	-21.7978	12.54	0.56163	0.1664:0.8336:0.0:0.0	.	91	Q5VZ66	JKIP3_HUMAN	C	91	ENSP00000298622:R91C	ENSP00000298622:R91C	R	+	1	0	JAKMIP3	133780706	0.790000	0.28787	0.993000	0.49108	0.974000	0.67602	1.183000	0.32041	2.345000	0.79718	0.485000	0.47835	CGT		PASS	0.607	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051049.3	NM_194303		8	57	8	57	---	---	---	---
DPYSL4	10570	broad.mit.edu	37	10	134013907	134013907	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr10:134013907G>A	ENST00000338492.4	+	9	1023	c.859G>A	c.(859-861)Ggt>Agt	p.G287S	DPYSL4_ENST00000368627.1_Missense_Mutation_p.G187S|DPYSL4_ENST00000368629.1_Missense_Mutation_p.G187S	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	287					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.G287S(1)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGGCACCGACGGTTCACACTA	0.667																																						uc009ybb.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(859-861)GGT>AGT		dihydropyrimidinase-like 4							122.0	110.0	114.0					10																	134013907		2203	4300	6503	SO:0001583	missense	10570				axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr10:134013907G>A	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.859G>A	10.37:g.134013907G>A	ENSP00000339850:p.Gly287Ser						p.G287S	NM_006426	NP_006417	O14531	DPYL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)	9	1013	+		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	287					B2RMQ1|D3DRG5|O00240|Q5T0Q7	Missense_Mutation	SNP	ENST00000338492.4	37	c.859G>A	CCDS7665.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843898	0.71488	.	.	ENSG00000151640	ENST00000338492;ENST00000368629;ENST00000368627	D;D;D	0.89485	-2.52;-2.52;-2.52	4.58	4.58	0.56647	Amidohydrolase 1 (1);	0.112094	0.64402	D	0.000013	D	0.93953	0.8064	M	0.70903	2.155	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.94482	0.7694	10	0.72032	D	0.01	-26.0084	18.0064	0.89211	0.0:0.0:1.0:0.0	.	287	O14531	DPYL4_HUMAN	S	287;187;187	ENSP00000339850:G287S;ENSP00000357618:G187S;ENSP00000357616:G187S	ENSP00000339850:G287S	G	+	1	0	DPYSL4	133863897	1.000000	0.71417	0.573000	0.28510	0.043000	0.13939	7.263000	0.78421	2.558000	0.86282	0.555000	0.69702	GGT		PASS	0.667	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2			4	135	4	135	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281697	281697	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:281697G>A	ENST00000312165.5	+	4	1963	c.1963G>A	c.(1963-1965)Gac>Aac	p.D655N	NLRP6_ENST00000534750.1_Missense_Mutation_p.D655N	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	655					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)	p.D655N(1)		breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGCCGCATGGACGTGGCTGT	0.627																																						uc010qvs.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(1963-1965)GAC>AAC		NLR family, pyrin domain containing 6							73.0	78.0	76.0					11																	281697		2203	4300	6503	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281697G>A	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1963G>A	11.37:g.281697G>A	ENSP00000309767:p.Asp655Asn					NLRP6_uc010qvt.1_Missense_Mutation_p.D655N	p.D655N	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1963	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	655					A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1963G>A	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473835	0.43942	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.54675	0.56;0.56	2.93	2.93	0.34026	.	0.115412	0.33712	N	0.004626	T	0.70491	0.3230	M	0.82323	2.585	0.33562	D	0.597511	D;D	0.89917	1.0;0.993	D;D	0.91635	0.999;0.984	T	0.79366	-0.1833	10	0.87932	D	0	.	9.5415	0.39255	0.0:0.0:1.0:0.0	.	655;655	E9PJZ8;P59044	.;NALP6_HUMAN	N	655	ENSP00000433617:D655N;ENSP00000309767:D655N	ENSP00000309767:D655N	D	+	1	0	NLRP6	271697	0.996000	0.38824	0.877000	0.34402	0.192000	0.23643	3.841000	0.55850	1.946000	0.56461	0.462000	0.41574	GAC		PASS	0.627	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		64	211	64	211	---	---	---	---
OR2AG1	144125	broad.mit.edu	37	11	6806907	6806907	+	Silent	SNP	T	T	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:6806907T>A	ENST00000307401.4	+	1	660	c.639T>A	c.(637-639)gcT>gcA	p.A213A		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A213A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCTTGCTGCTATACTGGCCT	0.498																																						uc001mer.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(637-639)GCT>GCA		olfactory receptor, family 2, subfamily AG,							235.0	202.0	213.0					11																	6806907		2201	4296	6497	SO:0001819	synonymous_variant	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806907T>A	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.639T>A	11.37:g.6806907T>A							p.A213A	NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	639	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	213			Helical; Name=5; (Potential).		B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	c.639T>A	CCDS31414.1																																																																																				PASS	0.498	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		67	215	67	215	---	---	---	---
ST5	6764	broad.mit.edu	37	11	8732709	8732709	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:8732709G>A	ENST00000534127.1	-	13	2627	c.2242C>T	c.(2242-2244)Cct>Tct	p.P748S	ST5_ENST00000526099.1_Missense_Mutation_p.P261S|ST5_ENST00000357665.1_Missense_Mutation_p.P748S|ST5_ENST00000530991.1_Missense_Mutation_p.P220S|ST5_ENST00000313726.6_Missense_Mutation_p.P748S|ST5_ENST00000526757.1_Missense_Mutation_p.P328S|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_Missense_Mutation_p.P328S	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	748	UDENN.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P748S(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		TTGGCATCAGGGAAGCAAAAC	0.567																																						uc001mgt.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(2242-2244)CCT>TCT		suppression of tumorigenicity 5 isoform 1							112.0	93.0	99.0					11																	8732709		2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8732709G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2242C>T	11.37:g.8732709G>A	ENSP00000433528:p.Pro748Ser					ST5_uc009yfr.2_Missense_Mutation_p.P328S|ST5_uc001mgu.2_Missense_Mutation_p.P328S|ST5_uc001mgv.2_Missense_Mutation_p.P748S|ST5_uc010rbq.1_RNA|ST5_uc010rbp.1_Missense_Mutation_p.P261S|ST5_uc009yfs.2_RNA	p.P748S	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	10	2428	-			748			UDENN.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.2242C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	32	5.152401	0.94645	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020;ENST00000447053;ENST00000530593	D;D;D;D;D;D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8;-3.8	5.39	5.39	0.77823	uDENN (3);	0.000000	0.85682	D	0.000000	D	0.97974	0.9333	M	0.86097	2.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.98713	1.0705	10	0.87932	D	0	-8.9653	19.1895	0.93658	0.0:0.0:1.0:0.0	.	261;328;748	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	S	328;748;748;220;748;261;328;220;402;205	ENSP00000435097:P328S;ENSP00000433528:P748S;ENSP00000319678:P748S;ENSP00000432887:P220S;ENSP00000350294:P748S;ENSP00000436808:P261S;ENSP00000436802:P328S;ENSP00000433588:P220S;ENSP00000437096:P205S	ENSP00000319678:P748S	P	-	1	0	ST5	8689285	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.526000	0.85167	0.563000	0.77884	CCT		PASS	0.567	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		51	204	51	204	---	---	---	---
TEAD1	7003	broad.mit.edu	37	11	12904622	12904622	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:12904622C>T	ENST00000526600.1	+	4	584	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	TEAD1_ENST00000334310.6_Missense_Mutation_p.R206C|TEAD1_ENST00000361985.2_Missense_Mutation_p.R217C|TEAD1_ENST00000527575.1_Missense_Mutation_p.R217C|TEAD1_ENST00000527636.1_Missense_Mutation_p.R217C|TEAD1_ENST00000361905.4_Missense_Mutation_p.R202C			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	217					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R202C(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AACCAAGCTTCGCCTGGTGGA	0.547																																						uc001mkj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(604-606)CGC>TGC		TEA domain family member 1							125.0	111.0	116.0					11																	12904622		2200	4294	6494	SO:0001583	missense	7003				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr11:12904622C>T	X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000526600.1:c.361C>T	11.37:g.12904622C>T	ENSP00000435393:p.Arg121Cys					TEAD1_uc001mkk.3_Missense_Mutation_p.R121C|TEAD1_uc009ygl.2_Missense_Mutation_p.R96C	p.R202C	NM_021961	NP_068780	P28347	TEAD1_HUMAN		Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)	9	1269	+			217			Transcriptional activation (Potential).		A4FUP2|E7EV65	Missense_Mutation	SNP	ENST00000526600.1	37	c.604C>T		.	.	.	.	.	.	.	.	.	.	C	15.41	2.825031	0.50739	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985;ENST00000526600	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.59	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.62356	0.2421	M	0.86420	2.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.96;1.0	T	0.67256	-0.5716	10	0.66056	D	0.02	-9.1337	10.142	0.42740	0.1364:0.7912:0.0:0.0724	.	206;121;217	A4FUP2;E9PKB7;P28347	.;.;TEAD1_HUMAN	C	202;217;217;206;217;121	ENSP00000355332:R202C;ENSP00000435233:R217C;ENSP00000435977:R217C;ENSP00000334754:R206C;ENSP00000354588:R217C;ENSP00000435393:R121C	ENSP00000334754:R206C	R	+	1	0	TEAD1	12861198	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.943000	0.49026	1.363000	0.46019	-0.140000	0.14226	CGC		PASS	0.547	TEAD1-007	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000387220.1	NM_021961		8	341	8	341	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22249017	22249017	+	Missense_Mutation	SNP	G	G	T	rs146725859		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:22249017G>T	ENST00000324559.8	+	7	850	c.533G>T	c.(532-534)aGt>aTt	p.S178I		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	178					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.S178I(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCCCACTGAGTGTGAAGTAT	0.463																																						uc001mqi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(532-534)AGT>ATT		anoctamin 5 isoform a							141.0	134.0	136.0					11																	22249017		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22249017G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.533G>T	11.37:g.22249017G>T	ENSP00000315371:p.Ser178Ile					ANO5_uc001mqj.2_Missense_Mutation_p.S177I	p.S178I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			7	850	+			178			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000324559.8	37	c.533G>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	G	7.803	0.713958	0.15306	.	.	ENSG00000171714	ENST00000324559	T	0.69926	-0.44	5.75	-6.62	0.01813	.	1.209340	0.05281	N	0.519407	T	0.50120	0.1597	L	0.45352	1.415	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.33317	-0.9873	10	0.46703	T	0.11	.	2.5659	0.04783	0.3222:0.2823:0.2974:0.0981	.	178	Q75V66	ANO5_HUMAN	I	178	ENSP00000315371:S178I	ENSP00000315371:S178I	S	+	2	0	ANO5	22205593	0.000000	0.05858	0.000000	0.03702	0.075000	0.17131	0.714000	0.25808	-1.438000	0.01965	-0.300000	0.09419	AGT		PASS	0.463	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		44	187	44	187	---	---	---	---
OR4C11	219429	broad.mit.edu	37	11	55371597	55371597	+	Missense_Mutation	SNP	A	A	T	rs143807541	byFrequency	TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:55371597A>T	ENST00000302231.4	-	1	277	c.253T>A	c.(253-255)Tct>Act	p.S85T		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S85T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TTCTTTTCAGAGAGAGCATCC	0.393																																						uc010rii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(253-255)TCT>ACT		olfactory receptor, family 4, subfamily C,							84.0	77.0	80.0					11																	55371597		2176	4012	6188	SO:0001583	missense	219429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55371597A>T	AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.253T>A	11.37:g.55371597A>T	ENSP00000306651:p.Ser85Thr						p.S85T	NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN			1	253	-			85			Extracellular (Potential).		B9EIL4|Q8NGL8	Missense_Mutation	SNP	ENST00000302231.4	37	c.253T>A	CCDS31503.1	.	.	.	.	.	.	.	.	.	.	A	0.583	-0.836337	0.02692	.	.	ENSG00000172188	ENST00000302231	T	0.01335	5.0	4.34	1.85	0.25348	GPCR, rhodopsin-like superfamily (1);	0.290468	0.24681	U	0.036480	T	0.01156	0.0038	L	0.37697	1.125	0.09310	N	1	P	0.45348	0.856	B	0.41271	0.352	T	0.48091	-0.9065	10	0.23302	T	0.38	.	1.4364	0.02345	0.537:0.1861:0.0982:0.1787	.	85	Q6IEV9	OR4CB_HUMAN	T	85	ENSP00000306651:S85T	ENSP00000306651:S85T	S	-	1	0	OR4C11	55128173	0.000000	0.05858	0.001000	0.08648	0.054000	0.15201	-0.454000	0.06770	0.256000	0.21614	0.391000	0.25812	TCT		PASS	0.393	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383268.1	NM_001004700		28	113	28	113	---	---	---	---
OR4C6	219432	broad.mit.edu	37	11	55432849	55432849	+	Silent	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:55432849C>A	ENST00000314259.3	+	1	236	c.207C>A	c.(205-207)gtC>gtA	p.V69V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69V(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTTTGGATGTCATGTTCTCAT	0.453																																						uc001nht.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(205-207)GTC>GTA		olfactory receptor, family 4, subfamily C,							281.0	243.0	256.0					11																	55432849		2200	4296	6496	SO:0001819	synonymous_variant	219432				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55432849C>A	CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.207C>A	11.37:g.55432849C>A						OR4C6_uc010rik.1_Silent_p.V69V	p.V69V	NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN			3	472	+			69			Helical; Name=2; (Potential).		B2RP11|Q6IFD2	Silent	SNP	ENST00000314259.3	37	c.207C>A	CCDS31506.1																																																																																				PASS	0.453	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391504.1	NM_001004704		87	284	87	284	---	---	---	---
OR5T3	390154	broad.mit.edu	37	11	56020624	56020624	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:56020624C>A	ENST00000303059.3	+	1	949	c.949C>A	c.(949-951)Ccc>Acc	p.P317T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	317						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P317T(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					CAAGTTGAATCCCATCATCTA	0.323																																						uc010rjd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(949-951)CCC>ACC		olfactory receptor, family 5, subfamily T,							70.0	65.0	67.0					11																	56020624		2201	4295	6496	SO:0001583	missense	390154				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56020624C>A	AB065837	CCDS31524.1	11q11	2012-08-09			ENSG00000172489	ENSG00000172489		"""GPCR / Class A : Olfactory receptors"""	15297	protein-coding gene	gene with protein product							Standard	NM_001004747		Approved	OR5T3Q	uc010rjd.2	Q8NGG3	OTTHUMG00000166852	ENST00000303059.3:c.949C>A	11.37:g.56020624C>A	ENSP00000305403:p.Pro317Thr						p.P317T	NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN			1	949	+	Esophageal squamous(21;0.00448)		317			Helical; Name=7; (Potential).		Q6IFC7	Missense_Mutation	SNP	ENST00000303059.3	37	c.949C>A	CCDS31524.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317450	0.60524	.	.	ENSG00000172489	ENST00000303059	T	0.63913	-0.07	4.32	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000246	D	0.86410	0.5926	H	0.98769	4.325	0.34775	D	0.734178	D	0.89917	1.0	D	0.97110	1.0	D	0.93091	0.6500	10	0.87932	D	0	.	12.4823	0.55852	0.0:0.9177:0.0:0.0823	.	317	Q8NGG3	OR5T3_HUMAN	T	317	ENSP00000305403:P317T	ENSP00000305403:P317T	P	+	1	0	OR5T3	55777200	1.000000	0.71417	0.975000	0.42487	0.919000	0.55068	5.138000	0.64795	1.163000	0.42636	-0.148000	0.13756	CCC		PASS	0.323	OR5T3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391599.1	NM_001004747		9	49	9	49	---	---	---	---
OR5A1	219982	broad.mit.edu	37	11	59211379	59211379	+	Silent	SNP	G	G	A	rs147466806	byFrequency	TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:59211379G>A	ENST00000302030.2	+	1	763	c.738G>A	c.(736-738)tcG>tcA	p.S246S		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	246						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S246S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CGTGTGCCTCGCATCTGATGG	0.542																																						uc001nnx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(736-738)TCG>TCA		olfactory receptor, family 5, subfamily A,		G		0,4402		0,0,2201	291.0	235.0	254.0		738	-12.0	0.0	11	dbSNP_134	254	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	OR5A1	NM_001004728.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		246/316	59211379	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211379G>A	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.738G>A	11.37:g.59211379G>A							p.S246S	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			1	738	+			246			Helical; Name=6; (Potential).		B9EH58|Q6IFF2|Q96RB1	Silent	SNP	ENST00000302030.2	37	c.738G>A	CCDS31561.1																																																																																				PASS	0.542	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728		133	431	133	431	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65389837	65389837	+	Splice_Site	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:65389837G>T	ENST00000355703.3	+	11	2896	c.2357G>T	c.(2356-2358)cGg>cTg	p.R786L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	786						integral component of membrane (GO:0016021)		p.R667L(2)|p.R786L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CTGCTGGACCGGTGAGTGTCC	0.642																																						uc001oey.2																			3	Substitution - Missense(3)		lung(3)		0						c.(2356-2358)CGG>CTG		pecanex-like 3							17.0	20.0	19.0					11																	65389837		2051	4185	6236	SO:0001630	splice_region_variant	399909					integral to membrane		g.chr11:65389837G>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.2357+1G>T	11.37:g.65389837G>T						PCNXL3_uc009yqn.2_5'Flank	p.R786L	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			11	2357	+			786					Q6MZN8	Missense_Mutation	SNP	ENST00000355703.3	37	c.2357G>T	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	32	5.112427	0.94339	.	.	ENSG00000197136	ENST00000355703	T	0.79247	-1.25	4.36	4.36	0.52297	.	.	.	.	.	D	0.87010	0.6071	M	0.81942	2.565	0.50171	D	0.999851	D	0.60160	0.987	D	0.65010	0.931	D	0.89078	0.3474	9	0.72032	D	0.01	.	14.4041	0.67071	0.0:0.0:1.0:0.0	.	786	Q9H6A9	PCX3_HUMAN	L	786	ENSP00000347931:R786L	ENSP00000347931:R786L	R	+	2	0	PCNXL3	65146413	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	8.922000	0.92789	1.986000	0.57962	0.561000	0.74099	CGG		PASS	0.642	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223	Missense_Mutation	3	10	3	10	---	---	---	---
PCNXL3	399909	broad.mit.edu	37	11	65396071	65396071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:65396071G>A	ENST00000355703.3	+	23	4247	c.3708G>A	c.(3706-3708)tgG>tgA	p.W1236*		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1236						integral component of membrane (GO:0016021)		p.W1236*(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						GCCAGCTGTGGGACTTGCTGT	0.602																																						uc001oey.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(3706-3708)TGG>TGA		pecanex-like 3							58.0	61.0	60.0					11																	65396071		2113	4224	6337	SO:0001587	stop_gained	399909					integral to membrane		g.chr11:65396071G>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3708G>A	11.37:g.65396071G>A	ENSP00000347931:p.Trp1236*					PCNXL3_uc001oez.2_Nonsense_Mutation_p.W123*	p.W1236*	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN			23	3708	+			1236					Q6MZN8	Nonsense_Mutation	SNP	ENST00000355703.3	37	c.3708G>A	CCDS44650.1	.	.	.	.	.	.	.	.	.	.	G	48	13.894006	0.99769	.	.	ENSG00000197136	ENST00000355703	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	16.0045	0.80349	0.0:0.0:1.0:0.0	.	.	.	.	X	1236	.	ENSP00000347931:W1236X	W	+	3	0	PCNXL3	65152647	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.788000	0.99064	2.470000	0.83445	0.655000	0.94253	TGG		PASS	0.602	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		19	69	19	69	---	---	---	---
GDPD5	81544	broad.mit.edu	37	11	75160035	75160035	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:75160035C>T	ENST00000336898.3	-	9	1538	c.701G>A	c.(700-702)cGc>cAc	p.R234H	GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000529721.1_Missense_Mutation_p.R234H|GDPD5_ENST00000526177.1_Missense_Mutation_p.R96H|GDPD5_ENST00000376282.3_Missense_Mutation_p.R115H|GDPD5_ENST00000533784.1_Missense_Mutation_p.R115H|GDPD5_ENST00000533805.1_5'UTR	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	234	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)	p.R234H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGGGGCCCCGCGGTGGCCAAT	0.607																																						uc001owo.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(700-702)CGC>CAC		glycerophosphodiester phosphodiesterase domain							46.0	48.0	48.0					11																	75160035		2200	4293	6493	SO:0001583	missense	81544				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	g.chr11:75160035C>T	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.701G>A	11.37:g.75160035C>T	ENSP00000337972:p.Arg234His					GDPD5_uc001owp.3_Missense_Mutation_p.R234H|GDPD5_uc001own.3_5'UTR|GDPD5_uc009yuc.2_Missense_Mutation_p.R96H|GDPD5_uc009yud.2_Missense_Mutation_p.R115H|GDPD5_uc009yue.1_Missense_Mutation_p.R122H	p.R234H	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN			10	1238	-			234			Extracellular (Potential).|GDPD.		Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	c.701G>A	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041352	0.93685	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000376282	T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55	5.27	5.27	0.74061	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.055956	0.64402	D	0.000001	D	0.82595	0.5071	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.97;0.985	D	0.88730	0.3236	10	0.87932	D	0	-28.3253	16.4369	0.83878	0.0:1.0:0.0:0.0	.	96;115;234	Q8WTR4-3;Q8WTR4-2;Q8WTR4	.;.;GDPD5_HUMAN	H	96;115;234;234;115	ENSP00000434050:R96H;ENSP00000437049:R115H;ENSP00000433214:R234H;ENSP00000337972:R234H;ENSP00000365459:R115H	ENSP00000337972:R234H	R	-	2	0	GDPD5	74837683	1.000000	0.71417	0.966000	0.40874	0.880000	0.50808	5.303000	0.65738	2.758000	0.94735	0.561000	0.74099	CGC		PASS	0.607	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792		22	58	22	58	---	---	---	---
MAML2	84441	broad.mit.edu	37	11	95825560	95825560	+	Silent	SNP	C	C	A	rs376041982		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:95825560C>A	ENST00000524717.1	-	2	2919	c.1635G>T	c.(1633-1635)ccG>ccT	p.P545P		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	545					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.P545P(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TGGCTGGGTGCGGGTTGTTAA	0.527			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																	uc001pfw.1				Dom	yes		11	11q22-q23	84441	T	mastermind-like 2 (Drosophila)			E	MECT1|CRTC3		salivary gland mucoepidermoid	CRTC1/MAML2(516)|CRTC3/MAML2(26)	1	Substitution - coding silent(1)		lung(1)	salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1)	546						c.(1633-1635)CCG>CCT		mastermind-like 2							43.0	45.0	45.0					11																	95825560		2013	4179	6192	SO:0001819	synonymous_variant	84441				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr11:95825560C>A	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.1635G>T	11.37:g.95825560C>A							p.P545P	NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN			2	2920	-		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)	545					A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	ENST00000524717.1	37	c.1635G>T	CCDS44714.1																																																																																				PASS	0.527	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1			11	41	11	41	---	---	---	---
MMP1	4312	broad.mit.edu	37	11	102667842	102667842	+	Silent	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:102667842A>T	ENST00000315274.6	-	3	469	c.402T>A	c.(400-402)atT>atA	p.I134I	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	134	Metalloprotease.				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)	p.I134I(1)		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)	AGGCTTTCTCAATGGCATGGT	0.433																																						uc001phi.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|lung(1)	4						c.(400-402)ATT>ATA		matrix metalloproteinase 1 isoform 1							139.0	133.0	135.0					11																	102667842		2203	4299	6502	SO:0001819	synonymous_variant	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.chr11:102667842A>T	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.402T>A	11.37:g.102667842A>T						uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.I68I	p.I134I	NM_002421	NP_002412	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)	3	545	-	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	134			Metalloprotease.		P08156	Silent	SNP	ENST00000315274.6	37	c.402T>A	CCDS8322.1																																																																																				PASS	0.433	MMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109632.1	NM_002421		100	351	100	351	---	---	---	---
USP28	57646	broad.mit.edu	37	11	113688476	113688476	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:113688476G>A	ENST00000003302.4	-	13	1435	c.1367C>T	c.(1366-1368)cCt>cTt	p.P456L	USP28_ENST00000537706.1_Missense_Mutation_p.P456L|RP11-667M19.10_ENST00000399123.2_RNA|USP28_ENST00000545540.1_Missense_Mutation_p.P331L|USP28_ENST00000544967.1_Missense_Mutation_p.P164L|USP28_ENST00000260188.5_Missense_Mutation_p.P456L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	456	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.P456L(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TTCTGAGGCAGGTTTTGTACT	0.463																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)	uc001poh.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1)	7						c.(1366-1368)CCT>CTT		ubiquitin specific protease 28							160.0	143.0	149.0					11																	113688476		2201	4296	6497	SO:0001583	missense	57646				cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr11:113688476G>A	AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1367C>T	11.37:g.113688476G>A	ENSP00000003302:p.Pro456Leu					USP28_uc001pog.2_Missense_Mutation_p.P164L|USP28_uc010rwy.1_Missense_Mutation_p.P331L|USP28_uc001poi.2_Intron|USP28_uc001poj.3_Missense_Mutation_p.P456L	p.P456L	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)	13	1400	-		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	456					B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	c.1367C>T	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	34	5.318848	0.95682	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000537706	T;T;T;T;T	0.50001	1.35;1.36;0.76;1.39;1.74	5.48	5.48	0.80851	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.049778	0.85682	D	0.000000	T	0.69788	0.3150	M	0.73598	2.24	0.80722	D	1	D;D;D;D	0.76494	0.986;0.998;0.999;0.999	P;D;D;D	0.73708	0.886;0.951;0.981;0.979	T	0.71606	-0.4542	10	0.72032	D	0.01	-20.1283	18.5328	0.90999	0.0:0.0:1.0:0.0	.	331;456;456;164	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	L	456;456;164;331;456	ENSP00000003302:P456L;ENSP00000260188:P456L;ENSP00000442431:P164L;ENSP00000444991:P331L;ENSP00000445743:P456L	ENSP00000003302:P456L	P	-	2	0	USP28	113193686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.646000	0.67916	2.861000	0.98227	0.650000	0.86243	CCT		PASS	0.463	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1			4	348	4	348	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777604	123777604	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:123777604G>A	ENST00000321355.2	+	1	496	c.466G>A	c.(466-468)Gct>Act	p.A156T		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A156T(1)		large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TTTCACTGATGCTGTGATCCA	0.468																																						uc010saa.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(466-468)GCT>ACT		olfactory receptor, family 8, subfamily D,							212.0	194.0	200.0					11																	123777604		2202	4299	6501	SO:0001583	missense	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777604G>A	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.466G>A	11.37:g.123777604G>A	ENSP00000325381:p.Ala156Thr						p.A156T	NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	466	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	156			Helical; Name=4; (Potential).		Q6IFE9	Missense_Mutation	SNP	ENST00000321355.2	37	c.466G>A	CCDS31698.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230013	0.58777	.	.	ENSG00000181518	ENST00000321355	T	0.39056	1.1	5.81	4.9	0.64082	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000239	T	0.52837	0.1759	M	0.68593	2.085	0.09310	N	1	D	0.59767	0.986	P	0.59012	0.85	T	0.51694	-0.8673	10	0.66056	D	0.02	.	5.897	0.18945	0.1569:0.0:0.6883:0.1547	.	156	Q8NGM9	OR8D4_HUMAN	T	156	ENSP00000325381:A156T	ENSP00000325381:A156T	A	+	1	0	OR8D4	123282814	0.000000	0.05858	0.031000	0.17742	0.907000	0.53573	-0.049000	0.11924	1.458000	0.47871	0.655000	0.94253	GCT		PASS	0.468	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		104	383	104	383	---	---	---	---
ROBO4	54538	broad.mit.edu	37	11	124766107	124766107	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr11:124766107C>T	ENST00000306534.3	-	4	1151	c.666G>A	c.(664-666)cgG>cgA	p.R222R	ROBO4_ENST00000533054.1_Silent_p.R77R|ROBO4_ENST00000526899.1_5'UTR	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	222	Ig-like C2-type 2.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.R222R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGATGGAAACCCGGGCTGCGC	0.602																																						uc001qbg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(664-666)CGG>CGA		roundabout homolog 4, magic roundabout							73.0	74.0	74.0					11																	124766107		2201	4299	6500	SO:0001819	synonymous_variant	54538				angiogenesis|cell differentiation	integral to membrane	receptor activity	g.chr11:124766107C>T	AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.666G>A	11.37:g.124766107C>T						ROBO4_uc010sas.1_Silent_p.R77R|ROBO4_uc001qbh.2_Silent_p.R112R|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank	p.R222R	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)	4	806	-	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	222			Ig-like C2-type 2.		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Silent	SNP	ENST00000306534.3	37	c.666G>A	CCDS8455.1																																																																																				PASS	0.602	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055		61	179	61	179	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6058318	6058318	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:6058318C>T	ENST00000261405.5	-	52	8559	c.8305G>A	c.(8305-8307)Gac>Aac	p.D2769N	ANO2_ENST00000327087.8_5'Flank|ANO2_ENST00000546188.1_5'Flank|ANO2_ENST00000356134.5_5'Flank	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2769	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.D2769N(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GAGCACTGGTCCTGCACATCG	0.547																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(8305-8307)GAC>AAC		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						109.0	92.0	98.0					12																	6058318		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6058318C>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.8305G>A	12.37:g.6058318C>T	ENSP00000261405:p.Asp2769Asn					ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR	p.D2769N	NM_000552	NP_000543	P04275	VWF_HUMAN			52	8555	-			2769			CTCK.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.8305G>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143104	0.57044	.	.	ENSG00000110799	ENST00000261405	T	0.34667	1.35	4.89	4.89	0.63831	Cystine knot, C-terminal (2);	0.475807	0.15736	N	0.247182	T	0.39545	0.1082	M	0.66939	2.045	0.80722	D	1	B	0.13594	0.008	B	0.11329	0.006	T	0.19353	-1.0308	10	0.31617	T	0.26	.	15.555	0.76187	0.0:1.0:0.0:0.0	.	2769	P04275	VWF_HUMAN	N	2769	ENSP00000261405:D2769N	ENSP00000261405:D2769N	D	-	1	0	VWF	5928579	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.063000	0.41423	2.268000	0.75426	0.555000	0.69702	GAC		PASS	0.547	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		33	91	33	91	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6690881	6690881	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:6690881T>C	ENST00000357008.2	-	31	4778	c.4615A>G	c.(4615-4617)Aaa>Gaa	p.K1539E	CHD4_ENST00000544484.1_Missense_Mutation_p.K1564E|CHD4_ENST00000309577.6_Missense_Mutation_p.K1567E|CHD4_ENST00000540960.1_5'Flank|CHD4_ENST00000544040.1_Missense_Mutation_p.K1532E|SCARNA11_ENST00000516089.1_RNA|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1539					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.K1539E(1)|p.K1567E(1)		central_nervous_system(2)	2						GTAGGAGTTTTTGGGGAGGGT	0.557																																					Colon(32;586 792 4568 16848 45314)	uc001qpo.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)	2						c.(4615-4617)AAA>GAA		chromodomain helicase DNA binding protein 4							194.0	184.0	187.0					12																	6690881		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6690881T>C	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4615A>G	12.37:g.6690881T>C	ENSP00000349508:p.Lys1539Glu					CHD4_uc001qpn.2_Missense_Mutation_p.K1532E|CHD4_uc001qpp.2_Missense_Mutation_p.K1564E|uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	p.K1539E	NM_001273	NP_001264	Q14839	CHD4_HUMAN			31	4779	-			1539					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4615A>G	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	T	14.77	2.633950	0.47049	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.90563	-2.69;-2.66;-2.69;-2.65	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.94272	0.8160	M	0.70275	2.135	0.58432	D	0.999995	D;B;D	0.56035	0.969;0.075;0.974	P;B;D	0.70487	0.881;0.027;0.969	D	0.92685	0.6161	10	0.22706	T	0.39	-12.6645	16.087	0.81065	0.0:0.0:0.0:1.0	.	1567;1539;1532	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	E	1564;1532;1567;1539;1513	ENSP00000440392:K1564E;ENSP00000440542:K1532E;ENSP00000312419:K1567E;ENSP00000349508:K1539E	ENSP00000312419:K1567E	K	-	1	0	CHD4	6561142	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.271000	0.72569	2.202000	0.70862	0.533000	0.62120	AAA		PASS	0.557	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		70	202	70	202	---	---	---	---
TMEM52B	120939	broad.mit.edu	37	12	10342551	10342551	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:10342551C>A	ENST00000381923.2	+	6	768	c.364C>A	c.(364-366)Cac>Aac	p.H122N	TMEM52B_ENST00000536952.1_Missense_Mutation_p.H122N|TMEM52B_ENST00000298530.3_Missense_Mutation_p.H102N			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	122						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.H102N(1)									GGCTCACTCCCACAGCTCCCT	0.562																																						uc001qxr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)CAC>AAC		RecName: Full=Uncharacterized protein C12orf59; Flags: Precursor;							84.0	74.0	77.0					12																	10342551		2203	4300	6503	SO:0001583	missense	120939					integral to membrane		g.chr12:10342551C>A	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.364C>A	12.37:g.10342551C>A	ENSP00000371348:p.His122Asn					C12orf59_uc001qxq.2_Missense_Mutation_p.H102N	p.H122N			Q4KMG9	CL059_HUMAN			5	981	+			122					Q96NA7	Missense_Mutation	SNP	ENST00000381923.2	37	c.364C>A		.	.	.	.	.	.	.	.	.	.	C	16.33	3.093009	0.56075	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000536952	T;T;T	0.30714	1.52;1.52;1.52	4.39	4.39	0.52855	.	0.075922	0.56097	D	0.000039	T	0.35128	0.0921	L	0.55481	1.735	0.40430	D	0.979934	P;P	0.40476	0.718;0.718	B;B	0.44278	0.445;0.445	T	0.10660	-1.0620	10	0.30078	T	0.28	-14.502	14.8378	0.70197	0.0:1.0:0.0:0.0	.	122;102	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	N	122;102;122	ENSP00000371348:H122N;ENSP00000298530:H102N;ENSP00000446102:H122N	ENSP00000298530:H102N	H	+	1	0	C12orf59	10233818	1.000000	0.71417	0.994000	0.49952	0.705000	0.40729	4.753000	0.62183	2.427000	0.82271	0.585000	0.79938	CAC		PASS	0.562	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022		16	144	16	144	---	---	---	---
LRP6	4040	broad.mit.edu	37	12	12317355	12317355	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:12317355A>C	ENST00000261349.4	-	9	1980	c.1904T>G	c.(1903-1905)tTg>tGg	p.L635W	LRP6_ENST00000543091.1_Missense_Mutation_p.L635W	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	635	Beta-propeller 3.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L635W(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CCGTGAAAACAAAAGGAAAGC	0.453																																						uc001rah.3																			1	Substitution - Missense(1)		lung(1)	lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1)	12						c.(1903-1905)TTG>TGG		low density lipoprotein receptor-related protein							105.0	103.0	104.0					12																	12317355		2203	4300	6503	SO:0001583	missense	4040				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	g.chr12:12317355A>C	AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.1904T>G	12.37:g.12317355A>C	ENSP00000261349:p.Leu635Trp					BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.L635W	p.L635W	NM_002336	NP_002327	O75581	LRP6_HUMAN			9	2046	-		Prostate(47;0.0865)	635			Extracellular (Potential).|Beta-propeller 3.		Q17RZ2	Missense_Mutation	SNP	ENST00000261349.4	37	c.1904T>G	CCDS8647.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.736391	0.89482	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.92149	-2.98;-2.98	5.65	5.65	0.86999	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.48286	D	0.000184	D	0.96759	0.8942	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	D	0.97541	1.0086	10	0.87932	D	0	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	635;635	F5H7J9;O75581	.;LRP6_HUMAN	W	635	ENSP00000261349:L635W;ENSP00000442472:L635W	ENSP00000261349:L635W	L	-	2	0	LRP6	12208622	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.026000	0.70873	2.279000	0.76181	0.533000	0.62120	TTG		PASS	0.453	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			18	277	18	277	---	---	---	---
GUCY2C	2984	broad.mit.edu	37	12	14792812	14792812	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:14792812T>C	ENST00000261170.3	-	19	2277	c.2141A>G	c.(2140-2142)gAg>gGg	p.E714G		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	714	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)	p.E714G(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CTCTTTTTCCTCTGCTGTTTC	0.338																																						uc001rcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(2140-2142)GAG>GGG		guanylate cyclase 2C precursor							121.0	123.0	122.0					12																	14792812		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14792812T>C		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.2141A>G	12.37:g.14792812T>C	ENSP00000261170:p.Glu714Gly						p.E714G	NM_004963	NP_004954	P25092	GUC2C_HUMAN			19	2278	-			714			Cytoplasmic (Potential).|Protein kinase.		B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.2141A>G	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	T	8.358	0.832481	0.16820	.	.	ENSG00000070019	ENST00000261170	D	0.83914	-1.78	4.68	4.68	0.58851	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.593836	0.19290	N	0.117924	T	0.67664	0.2917	N	0.17674	0.51	0.23720	N	0.997026	B	0.06786	0.001	B	0.08055	0.003	T	0.50642	-0.8804	10	0.14252	T	0.57	.	8.3057	0.32041	0.0:0.1012:0.0:0.8988	.	714	P25092	GUC2C_HUMAN	G	714	ENSP00000261170:E714G	ENSP00000261170:E714G	E	-	2	0	GUCY2C	14684079	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	2.108000	0.41854	1.876000	0.54355	0.528000	0.53228	GAG		PASS	0.338	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			68	221	68	221	---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50189134	50189134	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:50189134T>C	ENST00000335999.6	-	8	2710	c.2509A>G	c.(2509-2511)Aag>Gag	p.K837E		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	833	Pro-rich.							p.K837E(1)|p.K428E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGGACTCCTTGGTGACTAGC	0.637																																						uc009zlk.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(2509-2511)AAG>GAG		NCK-associated protein 5-like							75.0	78.0	77.0					12																	50189134		1916	4127	6043	SO:0001583	missense	57701							g.chr12:50189134T>C	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.2509A>G	12.37:g.50189134T>C	ENSP00000337998:p.Lys837Glu					NCKAP5L_uc001rvc.3_Missense_Mutation_p.K41E|NCKAP5L_uc001rvb.2_Missense_Mutation_p.K430E	p.K837E	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			8	2711	-			833			Pro-rich.		Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Missense_Mutation	SNP	ENST00000335999.6	37	c.2509A>G	CCDS41781.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.78|12.78	2.039117|2.039117	0.35989|0.35989	.|.	.|.	ENSG00000167566|ENSG00000167566	ENST00000335999;ENST00000354423|ENST00000433948	T|.	0.47869|.	0.83|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	0.000000|.	0.46758|.	D|.	0.000271|.	T|T	0.47838|0.47838	0.1467|0.1467	L|L	0.36672|0.36672	1.1|1.1	0.33990|0.33990	D|D	0.649035|0.649035	P;P;P|.	0.50528|.	0.879;0.571;0.936|.	B;B;P|.	0.44990|.	0.39;0.301;0.466|.	T|T	0.58657|0.58657	-0.7598|-0.7598	10|5	0.28530|.	T|.	0.3|.	-19.1206|-19.1206	9.2433|9.2433	0.37509|0.37509	0.0:0.0:0.1822:0.8178|0.0:0.0:0.1822:0.8178	.|.	811;833;833|.	E2QRB5;Q9HCH0;Q9HCH0-2|.	.;NCK5L_HUMAN;.|.	E|R	837;811|551	ENSP00000337998:K837E|.	ENSP00000337998:K837E|.	K|Q	-|-	1|2	0|0	NCKAP5L|NCKAP5L	48475401|48475401	1.000000|1.000000	0.71417|0.71417	0.663000|0.663000	0.29738|0.29738	0.620000|0.620000	0.37586|0.37586	1.793000|1.793000	0.38764|0.38764	2.009000|2.009000	0.58944|0.58944	0.459000|0.459000	0.35465|0.35465	AAG|CAA		PASS	0.637	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497		23	165	23	165	---	---	---	---
NCKAP5L	57701	broad.mit.edu	37	12	50196740	50196740	+	Splice_Site	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:50196740C>A	ENST00000335999.6	-	5	433		c.e5+1		NCKAP5L_ENST00000480927.1_5'Flank	NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like									p.?(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGGTTACTCACCTTCTGGTTC	0.602																																						uc009zlk.2																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e5+1		NCK-associated protein 5-like							41.0	46.0	44.0					12																	50196740		1962	4148	6110	SO:0001630	splice_region_variant	57701							g.chr12:50196740C>A	AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.231+1G>T	12.37:g.50196740C>A							p.K77_splice	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN			5	433	-								Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Splice_Site	SNP	ENST00000335999.6	37	c.231_splice	CCDS41781.2	.	.	.	.	.	.	.	.	.	.	C	18.64	3.666537	0.67814	.	.	ENSG00000167566	ENST00000335999;ENST00000354423	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3142	0.90213	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NCKAP5L	48483007	1.000000	0.71417	0.999000	0.59377	0.623000	0.37688	6.812000	0.75226	2.941000	0.99782	0.655000	0.94253	.		PASS	0.602	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346884.2	XM_035497	Intron	15	47	15	47	---	---	---	---
ATP5G2	517	broad.mit.edu	37	12	54059103	54059103	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:54059103T>C	ENST00000549164.1	-	5	608	c.421A>G	c.(421-423)Atg>Gtg	p.M141V	ATP5G2_ENST00000602871.1_Missense_Mutation_p.M141V|ATP5G2_ENST00000394349.3_Missense_Mutation_p.M198V|ATP5G2_ENST00000550241.1_Intron|ATP5G2_ENST00000338662.5_Missense_Mutation_p.M157V			Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	141			M -> K (in dbSNP:rs1803177).		ATP hydrolysis coupled proton transport (GO:0015991)|ATP synthesis coupled proton transport (GO:0015986)|response to ethanol (GO:0045471)	integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.M157V(1)		kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTCCTTCACATGGCAAAGAGG	0.567																																						uc009znc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(421-423)ATG>GTG		ATP synthase, H+ transporting, mitochondrial F0							55.0	54.0	54.0					12																	54059103		2203	4300	6503	SO:0001583	missense	517				ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding	g.chr12:54059103T>C	X69908	CCDS8863.2, CCDS31812.1	12q13.13	2012-10-12	2010-06-11		ENSG00000135390	ENSG00000135390		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	842	protein-coding gene	gene with protein product		603193	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit c (subunit 9), isoform 2"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)"""			8328972	Standard	NM_005176		Approved		uc001sec.3	Q06055	OTTHUMG00000133442	ENST00000549164.1:c.421A>G	12.37:g.54059103T>C	ENSP00000447317:p.Met141Val					ATP5G2_uc001sec.2_Missense_Mutation_p.M198V|ATP5G2_uc001sed.2_Missense_Mutation_p.M157V	p.M141V	NM_001002031	NP_001002031	Q06055	AT5G2_HUMAN			6	1122	-			141					B3KQQ6	Missense_Mutation	SNP	ENST00000549164.1	37	c.421A>G		.	.	.	.	.	.	.	.	.	.	T	16.74	3.205507	0.58234	.	.	ENSG00000135390	ENST00000394349;ENST00000549164;ENST00000338662	T;T;T	0.28666	1.6;1.73;1.66	5.32	5.32	0.75619	ATPase, F0/V0 complex, subunit C (1);	0.038055	0.85682	D	0.000000	T	0.19127	0.0459	N	0.10809	0.05	0.38007	D	0.934403	B;B;B	0.13594	0.0;0.001;0.008	B;B;B	0.11329	0.0;0.006;0.006	T	0.07868	-1.0750	10	0.41790	T	0.15	-6.6422	14.7093	0.69215	0.0:0.0:0.0:1.0	.	141;157;198	Q06055;Q06055-3;Q06055-2	AT5G2_HUMAN;.;.	V	198;141;157	ENSP00000377878:M198V;ENSP00000447317:M141V;ENSP00000340315:M157V	ENSP00000340315:M157V	M	-	1	0	ATP5G2	52345370	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.794000	0.85869	2.371000	0.80710	0.533000	0.62120	ATG		PASS	0.567	ATP5G2-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000407403.1	NM_005176		19	53	19	53	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55794749	55794749	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:55794749C>A	ENST00000379665.2	+	1	536	c.437C>A	c.(436-438)tCc>tAc	p.S146Y		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S146Y(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GTAATCAGCTCCTGGCTGGCT	0.428																																						uc010spl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)TCC>TAC		olfactory receptor, family 6, subfamily C,							127.0	133.0	131.0					12																	55794749		2203	4300	6503	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794749C>A		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.437C>A	12.37:g.55794749C>A	ENSP00000368986:p.Ser146Tyr						p.S146Y	NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN			1	437	+			146			Helical; Name=4; (Potential).		B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.437C>A	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	c	8.174	0.792437	0.16258	.	.	ENSG00000205328	ENST00000379665	T	0.39056	1.1	3.56	2.66	0.31614	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39544	U	0.001328	T	0.64159	0.2573	H	0.96208	3.785	0.09310	N	1	P	0.40681	0.727	P	0.45310	0.476	T	0.66019	-0.6027	10	0.72032	D	0.01	.	15.4542	0.75299	0.0:0.8549:0.1451:0.0	.	146	A6NJZ3	O6C65_HUMAN	Y	146	ENSP00000368986:S146Y	ENSP00000368986:S146Y	S	+	2	0	OR6C65	54081016	0.000000	0.05858	0.013000	0.15412	0.016000	0.09150	-0.221000	0.09202	0.310000	0.22990	-2.087000	0.00375	TCC		PASS	0.428	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			47	204	47	204	---	---	---	---
ERBB3	2065	broad.mit.edu	37	12	56477570	56477570	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:56477570G>A	ENST00000267101.3	+	2	558	c.118G>A	c.(118-120)Ggc>Agc	p.G40S	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Missense_Mutation_p.G40S|ERBB3_ENST00000415288.2_5'UTR	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	40					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.G40S(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGTGTGACCGGCGATGCTGA	0.547																																						uc001sjh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1)	8						c.(118-120)GGC>AGC		erbB-3 isoform 1 precursor							272.0	220.0	237.0					12																	56477570		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56477570G>A	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.118G>A	12.37:g.56477570G>A	ENSP00000267101:p.Gly40Ser					ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_5'UTR|ERBB3_uc001sjg.2_Missense_Mutation_p.G40S	p.G40S	NM_001982	NP_001973	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		2	311	+			40			Extracellular (Potential).		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.118G>A	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916750	0.73098	.	.	ENSG00000065361	ENST00000549282;ENST00000267101;ENST00000394099;ENST00000411731	T;T;T	0.80393	1.53;-1.37;1.51	5.43	5.43	0.79202	.	0.000000	0.64402	D	0.000001	T	0.70098	0.3185	N	0.25380	0.74	0.80722	D	1	B;P	0.47841	0.009;0.901	B;B	0.40506	0.018;0.331	T	0.68538	-0.5382	10	0.22109	T	0.4	.	16.2758	0.82642	0.0:0.0:1.0:0.0	.	40;40	P21860;P21860-2	ERBB3_HUMAN;.	S	40	ENSP00000448636:G40S;ENSP00000267101:G40S;ENSP00000415753:G40S	ENSP00000267101:G40S	G	+	1	0	ERBB3	54763837	1.000000	0.71417	0.953000	0.39169	0.994000	0.84299	6.841000	0.75374	2.823000	0.97156	0.650000	0.86243	GGC		PASS	0.547	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			9	445	9	445	---	---	---	---
ZBTB39	9880	broad.mit.edu	37	12	57398015	57398015	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:57398015G>A	ENST00000300101.2	-	2	772	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	229					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L229L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CAGTGCCTAGGAGTGGCTGGG	0.572																																						uc001sml.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(685-687)CTC>CTT		zinc finger and BTB domain containing 39							91.0	78.0	82.0					12																	57398015		2203	4300	6503	SO:0001819	synonymous_variant	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398015G>A	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.687C>T	12.37:g.57398015G>A						RDH16_uc010sqx.1_5'Flank	p.L229L	NM_014830	NP_055645	O15060	ZBT39_HUMAN			2	773	-			229					A7MD38|Q9UD98	Silent	SNP	ENST00000300101.2	37	c.687C>T	CCDS31839.1																																																																																				PASS	0.572	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830		8	76	8	76	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64238638	64238638	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:64238638A>G	ENST00000355086.3	+	1	566	c.42A>G	c.(40-42)atA>atG	p.I14M	SRGAP1_ENST00000357825.3_Missense_Mutation_p.I14M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	14	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.I14M(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		AAGAGATCATAGCCGAGTATG	0.493																																						uc010ssp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(40-42)ATA>ATG		SLIT-ROBO Rho GTPase activating protein 1							201.0	184.0	190.0					12																	64238638		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64238638A>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.42A>G	12.37:g.64238638A>G	ENSP00000347198:p.Ile14Met					SRGAP1_uc001srt.2_Missense_Mutation_p.I14M	p.I14M	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	1	98	+			14					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.42A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.067828	0.55539	.	.	ENSG00000196935	ENST00000355086;ENST00000357825	T;T	0.12774	3.09;2.65	4.53	-6.16	0.02098	.	0.224665	0.21435	U	0.074598	T	0.14141	0.0342	L	0.54323	1.7	0.45946	D	0.998772	B;B	0.32467	0.325;0.372	B;P	0.46629	0.1;0.522	T	0.20605	-1.0270	9	.	.	.	.	3.8403	0.08911	0.1947:0.4874:0.0789:0.2391	.	14;14	Q7Z6B7;Q7Z6B7-2	SRGP1_HUMAN;.	M	14	ENSP00000347198:I14M;ENSP00000350480:I14M	.	I	+	3	3	SRGAP1	62524905	0.896000	0.30565	0.950000	0.38849	0.996000	0.88848	-0.262000	0.08682	-1.199000	0.02666	0.379000	0.24179	ATA		PASS	0.493	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			21	195	21	195	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72050788	72050788	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:72050788C>G	ENST00000378743.3	-	2	1250	c.892G>C	c.(892-894)Gca>Cca	p.A298P	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.A298P|ZFC3H1_ENST00000549407.1_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.A298P	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	298					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.A298P(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AATTCAAATGCCTGAAAAGTT	0.368																																						uc001swo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(892-894)GCA>CCA		proline/serine-rich coiled-coil 2							130.0	121.0	124.0					12																	72050788		1814	4070	5884	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72050788C>G	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.892G>C	12.37:g.72050788C>G	ENSP00000368017:p.Ala298Pro					ZFC3H1_uc010sts.1_Missense_Mutation_p.A298P|ZFC3H1_uc001swp.2_Missense_Mutation_p.A298P	p.A298P	NM_144982	NP_659419	O60293	ZC3H1_HUMAN			2	1251	-			298					Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.892G>C	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246765	0.80024	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.52526	0.66	5.85	4.96	0.65561	.	0.139562	0.47093	D	0.000252	T	0.55162	0.1903	L	0.29908	0.895	0.58432	D	0.999997	D;D;D	0.67145	0.996;0.989;0.982	D;D;P	0.66497	0.944;0.92;0.785	T	0.56780	-0.7922	10	0.48119	T	0.1	.	14.8318	0.70153	0.0:0.9311:0.0:0.0689	.	298;298;298	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	P	298	ENSP00000368017:A298P	ENSP00000368017:A298P	A	-	1	0	ZFC3H1	70337055	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.166000	0.58203	1.472000	0.48140	0.655000	0.94253	GCA		PASS	0.368	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		52	180	52	180	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78452816	78452816	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:78452816C>A	ENST00000397909.2	+	12	2730	c.2557C>A	c.(2557-2559)Ctg>Atg	p.L853M	NAV3_ENST00000536525.2_Missense_Mutation_p.L853M|NAV3_ENST00000266692.7_Missense_Mutation_p.L853M|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000228327.6_Missense_Mutation_p.L853M			Q8IVL0	NAV3_HUMAN	neuron navigator 3	853						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.L853M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TACTAGAAGTCTGAACCGAAT	0.398										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(2557-2559)CTG>ATG		neuron navigator 3							93.0	89.0	90.0					12																	78452816		1896	4123	6019	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78452816C>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2557C>A	12.37:g.78452816C>A	ENSP00000381007:p.Leu853Met	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.L853M|NAV3_uc010sub.1_Missense_Mutation_p.L353M	p.L853M	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			12	2730	+			853					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.2557C>A		.	.	.	.	.	.	.	.	.	.	C	18.69	3.678491	0.68042	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.36699	1.35;1.35;1.36;1.24	5.82	3.99	0.46301	.	0.000000	0.31936	U	0.006827	T	0.46927	0.1418	L	0.46157	1.445	0.80722	D	1	D;P;D	0.63046	0.992;0.944;0.987	P;P;P	0.62184	0.899;0.598;0.838	T	0.35822	-0.9773	10	0.38643	T	0.18	-8.7594	11.4749	0.50291	0.0:0.7647:0.0:0.2352	.	853;853;853	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	M	853	ENSP00000446132:L853M;ENSP00000381007:L853M;ENSP00000228327:L853M;ENSP00000266692:L853M	ENSP00000228327:L853M	L	+	1	2	NAV3	76976947	0.982000	0.34865	1.000000	0.80357	0.942000	0.58702	0.162000	0.16501	1.474000	0.48178	0.650000	0.86243	CTG		PASS	0.398	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		18	119	18	119	---	---	---	---
SDS	10993	broad.mit.edu	37	12	113835191	113835191	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:113835191G>A	ENST00000257549.4	-	6	554	c.432C>T	c.(430-432)ggC>ggT	p.G144G		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	144					gluconeogenesis (GO:0006094)|L-serine catabolic process (GO:0006565)|pyruvate biosynthetic process (GO:0042866)|response to amino acid (GO:0043200)|response to cobalamin (GO:0033590)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.G144G(1)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)	TGGAAGCGTGGCCTTCCCTGG	0.657																																						uc001tvg.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(430-432)GGC>GGT		serine dehydratase	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						40.0	40.0	40.0					12																	113835191		2203	4300	6503	SO:0001819	synonymous_variant	10993				gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	g.chr12:113835191G>A	J05037	CCDS9169.1	12q24.13	2014-06-24			ENSG00000135094	ENSG00000135094	4.3.1.17		10691	protein-coding gene	gene with protein product	"""L-serine ammonia-lyase"""	182128				2674117	Standard	NM_006843		Approved	SDH	uc001tvg.3	P20132	OTTHUMG00000169554	ENST00000257549.4:c.432C>T	12.37:g.113835191G>A						SDS_uc001tvh.1_Silent_p.G144G	p.G144G	NM_006843	NP_006834	P20132	SDHL_HUMAN			6	554	-			144					A8K9P5	Silent	SNP	ENST00000257549.4	37	c.432C>T	CCDS9169.1	.	.	.	.	.	.	.	.	.	.	G	9.248	1.040033	0.19669	.	.	ENSG00000135094	ENST00000552280	.	.	.	4.45	3.56	0.40772	.	.	.	.	.	T	0.46737	0.1408	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.32134	-0.9918	5	0.27785	T	0.31	-23.9696	5.4748	0.16690	0.1795:0.167:0.6535:0.0	.	.	.	.	S	54	.	ENSP00000449833:P54S	P	-	1	0	SDS	112319574	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	0.853000	0.27777	1.100000	0.41517	0.561000	0.74099	CCA		PASS	0.657	SDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404790.1	NM_006843		20	80	20	80	---	---	---	---
FBXO21	23014	broad.mit.edu	37	12	117610395	117610395	+	Silent	SNP	T	T	A	rs376887336		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:117610395T>A	ENST00000330622.5	-	7	893	c.894A>T	c.(892-894)acA>acT	p.T298T	FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000427718.2_Silent_p.T298T			O94952	FBX21_HUMAN	F-box protein 21	298					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	ubiquitin ligase complex (GO:0000151)	DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)	p.T298T(1)		breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	29	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0291)		TTGGGATTCCTGTTCTGCGAA	0.408																																					GBM(168;452 2038 13535 17701 43680)	uc001twk.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(892-894)ACA>ACT		F-box only protein 21 isoform 1							65.0	62.0	63.0					12																	117610395		2203	4300	6503	SO:0001819	synonymous_variant	23014				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr12:117610395T>A	AB020682	CCDS9184.1, CCDS44989.1	12q24.23	2004-06-15	2004-06-15					"""F-boxes /  ""other"""""	13592	protein-coding gene	gene with protein product		609095	"""F-box only protein 21"""			10048485, 10531035	Standard	NM_033624		Approved	FBX21, KIAA0875	uc001twk.3	O94952	OTTHUMG00000169495	ENST00000330622.5:c.894A>T	12.37:g.117610395T>A						FBXO21_uc001twj.2_Silent_p.T298T|FBXO21_uc009zwq.2_Silent_p.T298T	p.T298T	NM_033624	NP_296373	O94952	FBX21_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0291)	7	933	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		298					B3KMF0|Q5BJG0|Q9H087	Silent	SNP	ENST00000330622.5	37	c.894A>T	CCDS9184.1	.	.	.	.	.	.	.	.	.	.	T	11.14	1.551645	0.27739	.	.	ENSG00000135108	ENST00000550180	.	.	.	5.45	-3.48	0.04739	.	.	.	.	.	T	0.38268	0.1034	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34254	-0.9836	4	.	.	.	-12.9836	1.6001	0.02672	0.218:0.3289:0.1122:0.341	.	.	.	.	W	242	.	.	R	-	1	2	FBXO21	116094778	0.402000	0.25311	0.990000	0.47175	0.999000	0.98932	-0.413000	0.07123	-0.494000	0.06669	0.533000	0.62120	AGG		PASS	0.408	FBXO21-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404409.1	NM_033624		38	101	38	101	---	---	---	---
PIWIL1	9271	broad.mit.edu	37	12	130847603	130847603	+	Silent	SNP	C	C	T	rs374592795		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr12:130847603C>T	ENST00000245255.3	+	18	2381	c.2109C>T	c.(2107-2109)ggC>ggT	p.G703G		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	703	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.G703G(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACCGCGATGGCGTAGGAGACG	0.478																																						uc001uik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2107-2109)GGC>GGT		piwi-like 1		C	,	0,4406		0,0,2203	116.0	114.0	115.0		2109,2109	-9.7	0.1	12		115	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous,coding-synonymous	PIWIL1	NM_001190971.1,NM_004764.4	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	703/830,703/862	130847603	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9271				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	g.chr12:130847603C>T	AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2109C>T	12.37:g.130847603C>T						PIWIL1_uc001uij.1_Silent_p.G703G	p.G703G	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)	18	2199	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		703			Piwi.		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Silent	SNP	ENST00000245255.3	37	c.2109C>T	CCDS9268.1																																																																																				PASS	0.478	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399510.1			48	150	48	150	---	---	---	---
ATP8A2	51761	broad.mit.edu	37	13	26127982	26127982	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr13:26127982A>T	ENST00000381655.2	+	12	1251	c.1109A>T	c.(1108-1110)tAc>tTc	p.Y370F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.Y330F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	330					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Y370F(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ATCATCTTATACAACAATCTT	0.393																																						uc001uqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1108-1110)TAC>TTC		ATPase, aminophospholipid transporter-like,							178.0	168.0	171.0					13																	26127982		1887	4109	5996	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26127982A>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1109A>T	13.37:g.26127982A>T	ENSP00000371070:p.Tyr370Phe					ATP8A2_uc010tdi.1_Missense_Mutation_p.Y330F|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.Y330F	p.Y370F	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	12	1251	+		Breast(139;0.0201)|Lung SC(185;0.0225)	330			Helical; (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.1109A>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.734487	0.30774	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	D;D	0.89875	-2.58;-2.58	5.31	5.31	0.75309	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.83681	0.5307	N	0.25890	0.77	0.80722	D	1	B;B;B	0.26258	0.092;0.145;0.092	B;B;B	0.35727	0.209;0.101;0.162	T	0.78357	-0.2235	10	0.10902	T	0.67	.	15.4293	0.75081	1.0:0.0:0.0:0.0	.	330;330;330	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	F	370;330;150	ENSP00000371070:Y370F;ENSP00000255283:Y330F	ENSP00000255283:Y330F	Y	+	2	0	ATP8A2	25025982	1.000000	0.71417	0.999000	0.59377	0.792000	0.44763	9.077000	0.94016	2.234000	0.73211	0.523000	0.50628	TAC		PASS	0.393	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		85	244	85	244	---	---	---	---
LMO7	4008	broad.mit.edu	37	13	76432057	76432057	+	Splice_Site	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr13:76432057C>G	ENST00000321797.8	+	29	4896	c.4175C>G	c.(4174-4176)tCt>tGt	p.S1392C	LMO7_ENST00000357063.3_Splice_Site_p.L1641V|LMO7_ENST00000341547.4_Splice_Site_p.S1343C|LMO7_ENST00000465261.2_Splice_Site_p.L1356V|LMO7_ENST00000526202.1_Splice_Site_p.S1269C|LMO7_ENST00000377534.3_Splice_Site_p.S1606R|LMO7_ENST00000605961.1_3'UTR			Q8WWI1	LMO7_HUMAN	LIM domain 7	1677					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L1641V(1)|p.L1356V(1)|p.S1343C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GCCCGATCAGCTGGACGGCCA	0.448																																						uc001vjv.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(1)|prostate(1)|skin(1)	5						c.(4066-4068)CTG>GTG		LIM domain only 7 isoform 2							129.0	122.0	125.0					13																	76432057		2203	4300	6503	SO:0001630	splice_region_variant	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76432057C>G	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.4175-1C>G	13.37:g.76432057C>G						LMO7_uc010thv.1_Missense_Mutation_p.S1343C|LMO7_uc010thw.1_Missense_Mutation_p.S1269C|LMO7_uc001vjx.1_RNA	p.L1356V	NM_015842	NP_056667	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	27	4826	+		Breast(118;0.0992)	Error:Variant_position_missing_in_Q8WWI1_after_alignment					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	ENST00000321797.8	37	c.4066C>G		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	20.7|20.7|20.7	4.034933|4.034933|4.034933	0.75617|0.75617|0.75617	.|.|.	.|.|.	ENSG00000136153|ENSG00000136153|ENSG00000136153	ENST00000357063;ENST00000465261|ENST00000341547;ENST00000321797;ENST00000526202|ENST00000377534	T;T|T;T;T|T	0.47177|0.49432|0.21734	1.42;0.85|1.35;0.79;0.78|1.99	5.49|5.49|5.49	5.49|5.49|5.49	0.81192|0.81192|0.81192	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.11922|0.11922|0.11922	0.0290|0.0290|0.0290	N|N|N	0.04018|0.04018|0.04018	-0.295|-0.295|-0.295	0.29248|0.29248|0.29248	N|N|N	0.872189|0.872189|0.872189	P|D;D|.	0.46912|0.76494|.	0.886|0.998;0.999|.	B|P;D|.	0.40165|0.67382|.	0.321|0.818;0.951|.	T|T|T	0.15578|0.15578|0.15578	-1.0432|-1.0432|-1.0432	8|8|6	.|.|.	.|.|.	.|.|.	.|.|.	13.0155|13.0155|13.0155	0.58754|0.58754|0.58754	0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738|0.0:0.9262:0.0:0.0738	.|.|.	1356|1269;1343|.	E9PLH4|E9PMS6;Q8WWI1-3|.	.|.;.|.	V|C|R	1641;1356|1343;1392;1269|1606	ENSP00000349571:L1641V;ENSP00000433352:L1356V|ENSP00000342112:S1343C;ENSP00000317802:S1392C;ENSP00000431129:S1269C|ENSP00000366757:S1606R	.|.|.	L|S|S	+|+|+	1|2|3	2|0|2	LMO7|LMO7|LMO7	75330058|75330058|75330058	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	4.335000|4.335000|4.335000	0.59298|0.59298|0.59298	2.733000|2.733000|2.733000	0.93635|0.93635|0.93635	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CTG|TCT|AGC		PASS	0.448	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	Missense_Mutation	4	109	4	109	---	---	---	---
OR4L1	122742	broad.mit.edu	37	14	20528999	20528999	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr14:20528999G>C	ENST00000315683.1	+	1	796	c.796G>C	c.(796-798)Gca>Cca	p.A266P		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A266P(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CAGTAGTTTGGCAAGCAATAA	0.408																																						uc001vwn.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(796-798)GCA>CCA		olfactory receptor, family 4, subfamily L,							107.0	101.0	103.0					14																	20528999		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528999G>C		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.796G>C	14.37:g.20528999G>C	ENSP00000319217:p.Ala266Pro						p.A266P	NM_001004717	NP_001004717	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	796	+	all_cancers(95;0.00108)		266			Extracellular (Potential).		Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.796G>C	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	12.31	1.899935	0.33535	.	.	ENSG00000176246	ENST00000315683	T	0.00137	8.68	4.37	-1.17	0.09648	GPCR, rhodopsin-like superfamily (1);	1.188910	0.06095	N	0.664286	T	0.00039	0.0001	N	0.02685	-0.53	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.22836	-1.0205	10	0.02654	T	1	.	1.4244	0.02320	0.1669:0.1371:0.2751:0.4209	.	266	Q8NH43	OR4L1_HUMAN	P	266	ENSP00000319217:A266P	ENSP00000319217:A266P	A	+	1	0	OR4L1	19598839	0.000000	0.05858	0.000000	0.03702	0.962000	0.63368	-1.733000	0.01850	-0.331000	0.08501	0.650000	0.86243	GCA		PASS	0.408	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			37	80	37	80	---	---	---	---
RNASE13	440163	broad.mit.edu	37	14	21502245	21502245	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr14:21502245C>A	ENST00000382951.3	-	2	340	c.203G>T	c.(202-204)tGc>tTc	p.C68F	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	68						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.C68F(1)		cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		GATCTTTGGGCAATCTGAATT	0.433																																						uc001vzj.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(202-204)TGC>TTC		ribonuclease, RNase A family, 13 precursor							140.0	118.0	126.0					14																	21502245		2203	4300	6503	SO:0001583	missense	440163					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21502245C>A	AY665808	CCDS32039.1	14q11.1	2011-02-10			ENSG00000206150	ENSG00000206150		"""Ribonucleases, RNase A"""	25285	protein-coding gene	gene with protein product							Standard	NM_001012264		Approved		uc001vzj.3	Q5GAN3		ENST00000382951.3:c.203G>T	14.37:g.21502245C>A	ENSP00000372410:p.Cys68Phe					NDRG2_uc010tll.1_Intron	p.C68F	NM_001012264	NP_001012264	Q5GAN3	RNS13_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)	2	341	-	all_cancers(95;0.000759)		68						Missense_Mutation	SNP	ENST00000382951.3	37	c.203G>T	CCDS32039.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701125	0.68501	.	.	ENSG00000206150	ENST00000382951	D	0.87966	-2.32	5.42	5.42	0.78866	Ribonuclease A, domain (3);	0.000000	0.64402	D	0.000006	D	0.89691	0.6788	L	0.34521	1.04	0.39505	D	0.968264	D	0.89917	1.0	D	0.79108	0.992	D	0.91186	0.4980	10	0.87932	D	0	-40.3255	14.7213	0.69308	0.0:1.0:0.0:0.0	.	68	Q5GAN3	RNS13_HUMAN	F	68	ENSP00000372410:C68F	ENSP00000372410:C68F	C	-	2	0	RNASE13	20572085	1.000000	0.71417	0.927000	0.36925	0.064000	0.16182	3.517000	0.53443	2.545000	0.85829	0.650000	0.86243	TGC		PASS	0.433	RNASE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411744.1			61	133	61	133	---	---	---	---
NID2	22795	broad.mit.edu	37	14	52507411	52507411	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr14:52507411G>A	ENST00000216286.5	-	8	1983	c.1984C>T	c.(1984-1986)Cac>Tac	p.H662Y	NID2_ENST00000541773.1_Missense_Mutation_p.H609Y	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	662	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.H662Y(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGAGAGATGTGGGCTGTGAAA	0.463																																						uc001wzo.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1)	7						c.(1984-1986)CAC>TAC		nidogen 2 precursor							320.0	273.0	289.0					14																	52507411		2203	4300	6503	SO:0001583	missense	22795					basement membrane	calcium ion binding|collagen binding	g.chr14:52507411G>A	AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.1984C>T	14.37:g.52507411G>A	ENSP00000216286:p.His662Tyr					NID2_uc010tqs.1_Missense_Mutation_p.H662Y|NID2_uc010tqt.1_Missense_Mutation_p.H662Y|NID2_uc001wzp.2_Missense_Mutation_p.H662Y	p.H662Y	NM_007361	NP_031387	Q14112	NID2_HUMAN			8	2218	-	Breast(41;0.0639)|all_epithelial(31;0.123)		662			Nidogen G2 beta-barrel.		A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	c.1984C>T	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.438522	0.25900	.	.	ENSG00000087303	ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	T;T	0.32023	1.47;1.47	5.81	3.93	0.45458	G2 nidogen/fibulin G2F (3);Green fluorescent protein-like (1);	0.417432	0.29995	N	0.010676	T	0.33789	0.0875	M	0.81497	2.545	0.24793	N	0.992748	B;B;B;B	0.34226	0.011;0.443;0.037;0.01	B;B;B;B	0.30855	0.035;0.121;0.022;0.024	T	0.19095	-1.0316	10	0.36615	T	0.2	.	11.083	0.48070	0.0:0.2623:0.6017:0.136	.	256;609;664;662	E7EPP3;Q14112-2;Q5CZI2;Q14112	.;.;.;NID2_HUMAN	Y	662;256;609;664	ENSP00000216286:H662Y;ENSP00000443730:H609Y	ENSP00000216286:H662Y	H	-	1	0	NID2	51577161	1.000000	0.71417	0.068000	0.19968	0.469000	0.32828	2.988000	0.49386	0.739000	0.32628	0.650000	0.86243	CAC		PASS	0.463	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1			5	377	5	377	---	---	---	---
PTGDR	5729	broad.mit.edu	37	14	52734677	52734677	+	Missense_Mutation	SNP	T	T	G	rs555531938		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr14:52734677T>G	ENST00000306051.2	+	1	247	c.145T>G	c.(145-147)Tgc>Ggc	p.C49G	PTGDR_ENST00000553372.1_Missense_Mutation_p.C49G	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	49					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)	p.C49G(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GCTGGGGTGGTGCTCGCGGCG	0.692																																						uc001wzq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(145-147)TGC>GGC		prostaglandin D2 receptor	Nedocromil(DB00716)						24.0	26.0	25.0					14																	52734677		2201	4299	6500	SO:0001583	missense	5729					integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding	g.chr14:52734677T>G	U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.145T>G	14.37:g.52734677T>G	ENSP00000303424:p.Cys49Gly						p.C49G	NM_000953	NP_000944	Q13258	PD2R_HUMAN			1	247	+	Breast(41;0.0639)|all_epithelial(31;0.0887)		49			Cytoplasmic (Potential).		G3V5L3|Q13250|Q13251|Q1ZZ52	Missense_Mutation	SNP	ENST00000306051.2	37	c.145T>G	CCDS9707.1	.	.	.	.	.	.	.	.	.	.	T	5.476	0.272937	0.10349	.	.	ENSG00000168229	ENST00000306051;ENST00000553372	T;T	0.16897	2.31;2.57	4.17	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000059	T	0.09774	0.0240	L	0.29908	0.895	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.27365	-1.0076	10	0.25751	T	0.34	-17.4293	4.8044	0.13312	0.1663:0.0947:0.0:0.739	.	49	Q13258	PD2R_HUMAN	G	49	ENSP00000303424:C49G;ENSP00000452408:C49G	ENSP00000303424:C49G	C	+	1	0	PTGDR	51804427	0.107000	0.21998	0.050000	0.19076	0.253000	0.25986	0.841000	0.27613	0.398000	0.25338	0.460000	0.39030	TGC		PASS	0.692	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276889.1	NM_000953		4	22	4	22	---	---	---	---
PPP2R5E	5529	broad.mit.edu	37	14	63851287	63851287	+	Silent	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr14:63851287C>A	ENST00000337537.3	-	12	1679	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V	PPP2R5E_ENST00000422769.2_Silent_p.V283V|PPP2R5E_ENST00000555899.1_Silent_p.V359V|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	359					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.V359V(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTCTTTCTGCCACCTTTGGGA	0.299																																						uc001xgd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1075-1077)GTG>GTT		epsilon isoform of regulatory subunit B56,							61.0	64.0	63.0					14																	63851287		2203	4300	6503	SO:0001819	synonymous_variant	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63851287C>A	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.1077G>T	14.37:g.63851287C>A						PPP2R5E_uc010tsf.1_Silent_p.V283V|PPP2R5E_uc010tsg.1_Silent_p.V283V|PPP2R5E_uc001xge.2_Silent_p.V359V|PPP2R5E_uc010tsh.1_Silent_p.V359V|PPP2R5E_uc001xgf.1_RNA	p.V359V	NM_006246	NP_006237	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	12	1667	-			359					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Silent	SNP	ENST00000337537.3	37	c.1077G>T	CCDS9758.1																																																																																				PASS	0.299	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		57	104	57	104	---	---	---	---
LTBP2	4053	broad.mit.edu	37	14	74975375	74975375	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr14:74975375C>T	ENST00000261978.4	-	24	3970	c.3584G>A	c.(3583-3585)aGc>aAc	p.S1195N	LTBP2_ENST00000556690.1_Missense_Mutation_p.S1195N	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1195	Cys-rich.|EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.S1195N(3)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGACCCGTGGCTGTTGAGGCA	0.632																																						uc001xqa.2																			3	Substitution - Missense(3)		lung(3)	liver(1)|skin(1)	2						c.(3583-3585)AGC>AAC		latent transforming growth factor beta binding							49.0	60.0	56.0					14																	74975375		2203	4300	6503	SO:0001583	missense	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74975375C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.3584G>A	14.37:g.74975375C>T	ENSP00000261978:p.Ser1195Asn						p.S1195N	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	24	3971	-			1195			Cys-rich.|EGF-like 12; calcium-binding (Potential).		Q99907|Q9NS51	Missense_Mutation	SNP	ENST00000261978.4	37	c.3584G>A	CCDS9831.1	.	.	.	.	.	.	.	.	.	.	C	15.11	2.737068	0.49045	.	.	ENSG00000119681	ENST00000261978;ENST00000556690	D;D	0.91843	-2.92;-2.92	5.2	3.25	0.37280	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.139234	0.33272	N	0.005092	D	0.90830	0.7120	N	0.20483	0.58	0.30355	N	0.784351	D	0.56746	0.977	P	0.61722	0.893	D	0.87702	0.2561	10	0.27785	T	0.31	.	15.1905	0.73041	0.0:0.7164:0.2836:0.0	.	1195	Q14767	LTBP2_HUMAN	N	1195	ENSP00000261978:S1195N;ENSP00000451477:S1195N	ENSP00000261978:S1195N	S	-	2	0	LTBP2	74045128	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	3.171000	0.50824	1.374000	0.46228	0.462000	0.41574	AGC		PASS	0.632	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428		31	60	31	60	---	---	---	---
AMN	81693	broad.mit.edu	37	14	103390101	103390101	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr14:103390101G>A	ENST00000299155.5	+	2	130	c.97G>A	c.(97-99)Gca>Aca	p.A33T		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	33					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)	p.A33T(1)		kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCGACGTCGCAGCCAACTG	0.706																																						uc001ymg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(97-99)GCA>ACA		amnionless protein precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						33.0	39.0	37.0					14																	103390101		2203	4298	6501	SO:0001583	missense	81693				lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane		g.chr14:103390101G>A	AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"""amnionless homolog (mouse)"""			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7		ENST00000299155.5:c.97G>A	14.37:g.103390101G>A	ENSP00000299155:p.Ala33Thr					AMN_uc001ymh.3_5'UTR	p.A33T	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN		Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	2	130	+			33			Extracellular (Potential).		Q6UX83	Missense_Mutation	SNP	ENST00000299155.5	37	c.97G>A	CCDS9977.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927465	0.34002	.	.	ENSG00000166126	ENST00000299155	D	0.91407	-2.84	3.27	1.31	0.21738	.	0.498860	0.19789	U	0.106036	D	0.90885	0.7136	M	0.68952	2.095	0.09310	N	1	D	0.71674	0.998	P	0.57009	0.811	T	0.82313	-0.0519	10	0.48119	T	0.1	.	5.0845	0.14675	0.1304:0.2141:0.6555:0.0	.	33	Q9BXJ7	AMNLS_HUMAN	T	33	ENSP00000299155:A33T	ENSP00000299155:A33T	A	+	1	0	AMN	102459854	0.005000	0.15991	0.001000	0.08648	0.062000	0.15995	0.668000	0.25127	0.169000	0.19679	0.485000	0.47835	GCA		PASS	0.706	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415704.1			13	81	13	81	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104208451	104208451	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr14:104208451G>T	ENST00000202556.9	-	11	1780	c.1498C>A	c.(1498-1500)Ccc>Acc	p.P500T	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	500	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P500T(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AGCAGGGTGGGCCTCTGTCGA	0.642																																						uc001yof.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1498-1500)CCC>ACC		apoptosis-stimulating protein of p53, 1							51.0	60.0	57.0					14																	104208451		1982	4156	6138	SO:0001583	missense	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104208451G>T	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1498C>A	14.37:g.104208451G>T	ENSP00000202556:p.Pro500Thr					PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.P367T	p.P500T	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			11	1781	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	500			Pro-rich.		B2RMX5|O94870	Missense_Mutation	SNP	ENST00000202556.9	37	c.1498C>A	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140340	0.37825	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	T	0.51574	0.7	5.48	4.58	0.56647	.	0.055333	0.64402	D	0.000001	T	0.44726	0.1307	L	0.59436	1.845	0.80722	D	1	B	0.27559	0.181	B	0.24541	0.054	T	0.34502	-0.9826	10	0.20519	T	0.43	.	16.7517	0.85488	0.0:0.1291:0.8709:0.0	.	500	Q96KQ4	ASPP1_HUMAN	T	500;367	ENSP00000202556:P500T	ENSP00000202556:P500T	P	-	1	0	PPP1R13B	103278204	1.000000	0.71417	0.083000	0.20561	0.386000	0.30323	4.499000	0.60380	1.423000	0.47198	0.561000	0.74099	CCC		PASS	0.642	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		8	106	8	106	---	---	---	---
IGHM	3507	broad.mit.edu	37	14	106322307	106322307	+	RNA	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr14:106322307G>T	ENST00000390559.2	-	0	16				hsa-mir-4539_ENST00000579784.1_RNA|AL122127.2_ENST00000581918.1_RNA|AL122127.5_ENST00000582202.1_RNA|AL122127.4_ENST00000581720.1_RNA|AL122127.1_ENST00000581354.1_RNA|hsa-mir-4538_ENST00000581318.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GAAAAGGGTTGGGGCGGATGC	0.627																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							18.0	19.0	18.0					14																	106322307		2085	4174	6259			8755							g.chr14:106322307G>T	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106322307G>T						uc001yrs.2_Intron|uc001yrt.2_Intron|uc001yrw.1_Intron|uc001yrx.1_Intron|uc001yrz.1_Intron|uc001yse.2_Intron|uc001ysf.2_Intron|uc001ysj.2_Intron|uc001ysk.1_Intron|uc001ysl.1_Intron|uc001ysm.1_Intron|uc001ysn.1_Intron|uc001yso.1_Intron								3598		-								P20769	RNA	SNP	ENST00000390559.2	37	c.55179C>A																																																																																					PASS	0.627	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		3	2	3	2	---	---	---	---
IGHV3-72	28410	broad.mit.edu	37	14	107199139	107199139	+	RNA	SNP	G	G	A	rs188384416	byFrequency	TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr14:107199139G>A	ENST00000433072.2	-	0	229									immunoglobulin heavy variable 3-72																		CCATGTAGTGGTCACTGAAGG	0.592													.|||	3	0.000599042	0.0	0.0	5008	,	,		16064	0.003		0.0	False		,,,				2504	0.0					uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							117.0	111.0	113.0					14																	107199139		1896	4103	5999			8755							g.chr14:107199139G>A	X92206		14q32.33	2012-02-08			ENSG00000225698	ENSG00000225698		"""Immunoglobulins / IGH locus"""	5622	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151865		14.37:g.107199139G>A														21		-									RNA	SNP	ENST00000433072.2	37	c.1559C>T																																																																																					PASS	0.592	IGHV3-72-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324210.1	NG_001019		29	168	29	168	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25936908	25936908	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr15:25936908T>A	ENST00000356865.6	-	15	3230	c.3119A>T	c.(3118-3120)cAg>cTg	p.Q1040L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1040					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.Q1040L(2)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATCTGCCACCTGGATCATGCT	0.473																																						uc010ayu.2																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(3118-3120)CAG>CTG		ATPase, class V, type 10A							270.0	237.0	249.0					15																	25936908		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25936908T>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.3119A>T	15.37:g.25936908T>A	ENSP00000349325:p.Gln1040Leu						p.Q1040L	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	15	3225	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1040			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.3119A>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.644563	0.87859	.	.	ENSG00000206190	ENST00000356865;ENST00000555756	D;T	0.83591	-1.74;0.32	5.83	5.83	0.93111	HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.90469	0.7015	M	0.80028	2.48	0.80722	D	1	D	0.65815	0.995	P	0.61722	0.893	D	0.91737	0.5401	10	0.87932	D	0	-30.1613	16.2009	0.82078	0.0:0.0:0.0:1.0	.	1040	O60312	AT10A_HUMAN	L	1040;13	ENSP00000349325:Q1040L;ENSP00000451615:Q13L	ENSP00000349325:Q1040L	Q	-	2	0	ATP10A	23488001	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.754000	0.85163	2.235000	0.73313	0.533000	0.62120	CAG		PASS	0.473	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		93	411	93	411	---	---	---	---
APBA2	321	broad.mit.edu	37	15	29346291	29346291	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr15:29346291C>T	ENST00000558402.1	+	5	803	c.204C>T	c.(202-204)ccC>ccT	p.P68P	APBA2_ENST00000558330.1_Silent_p.P68P|APBA2_ENST00000411764.1_Silent_p.P68P|APBA2_ENST00000558259.1_Silent_p.P68P|APBA2_ENST00000561069.1_Silent_p.P68P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	68					in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.P68P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ACCACAGCCCCGATGGGGACT	0.642																																						uc001zck.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(202-204)CCC>CCT		amyloid beta A4 precursor protein-binding,							87.0	96.0	93.0					15																	29346291		2203	4300	6503	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29346291C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.204C>T	15.37:g.29346291C>T						APBA2_uc010azj.2_Silent_p.P68P|APBA2_uc010uat.1_Silent_p.P68P|APBA2_uc001zcl.2_Silent_p.P68P|APBA2_uc010uas.1_Silent_p.P68P	p.P68P	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	411	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	68					E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.204C>T	CCDS10022.1																																																																																				PASS	0.642	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		51	349	51	349	---	---	---	---
SLC24A5	283652	broad.mit.edu	37	15	48431199	48431199	+	Missense_Mutation	SNP	A	A	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr15:48431199A>G	ENST00000341459.3	+	7	978	c.905A>G	c.(904-906)gAc>gGc	p.D302G	SLC24A5_ENST00000449382.2_Missense_Mutation_p.D242G	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	302					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.D302G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		CCTGAAGCAGACTTAAAAAGA	0.313																																						uc001zwe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(904-906)GAC>GGC		solute carrier family 24, member 5 precursor							57.0	60.0	59.0					15																	48431199		2198	4291	6489	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48431199A>G	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.905A>G	15.37:g.48431199A>G	ENSP00000341550:p.Asp302Gly					SLC24A5_uc010bel.2_Missense_Mutation_p.D242G|uc001zwf.1_5'Flank|SLC24A5_uc001zwk.2_5'Flank	p.D302G	NM_205850	NP_995322	Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	7	978	+		all_lung(180;0.00217)	302			Cytoplasmic (Potential).		A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.905A>G	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	A	17.26	3.344705	0.61073	.	.	ENSG00000188467	ENST00000341459;ENST00000449382	T;T	0.74947	-0.89;-0.88	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	T	0.82051	0.4953	L	0.58810	1.83	0.80722	D	1	D;P	0.76494	0.999;0.615	D;B	0.65987	0.94;0.142	T	0.78355	-0.2236	10	0.18710	T	0.47	.	16.3127	0.82898	1.0:0.0:0.0:0.0	.	242;302	A5X8Z9;Q71RS6	.;NCKX5_HUMAN	G	302;242	ENSP00000341550:D302G;ENSP00000389966:D242G	ENSP00000341550:D302G	D	+	2	0	SLC24A5	46218491	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	6.924000	0.75823	2.246000	0.74042	0.533000	0.62120	GAC		PASS	0.313	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		18	59	18	59	---	---	---	---
PRTG	283659	broad.mit.edu	37	15	55929437	55929437	+	Missense_Mutation	SNP	G	G	T	rs565497553		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr15:55929437G>T	ENST00000389286.4	-	15	2601	c.2554C>A	c.(2554-2556)Cgc>Agc	p.R852S		NM_173814.4	NP_776175.2			protogenin									p.R852S(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		ATAGTATAGCGGGTCACAACT	0.473																																						uc002adg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.(2554-2556)CGC>AGC		protogenin precursor							150.0	150.0	150.0					15																	55929437		1874	4096	5970	SO:0001583	missense	283659				multicellular organismal development	integral to membrane		g.chr15:55929437G>T	AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2554C>A	15.37:g.55929437G>T	ENSP00000373937:p.Arg852Ser						p.R852S	NM_173814	NP_776175	Q2VWP7	PRTG_HUMAN		all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)	15	2602	-			852			Fibronectin type-III 5.			Missense_Mutation	SNP	ENST00000389286.4	37	c.2554C>A	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789331	0.70337	.	.	ENSG00000166450	ENST00000389286	T	0.56275	0.47	5.6	5.6	0.85130	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.134693	0.51477	D	0.000100	T	0.45716	0.1356	N	0.17723	0.515	0.80722	D	1	D	0.54601	0.967	P	0.52309	0.695	T	0.23013	-1.0200	10	0.12766	T	0.61	-11.9953	13.55	0.61726	0.0:0.0:0.8444:0.1556	.	852	Q2VWP7	PRTG_HUMAN	S	852	ENSP00000373937:R852S	ENSP00000373937:R852S	R	-	1	0	PRTG	53716729	1.000000	0.71417	0.923000	0.36655	0.874000	0.50279	7.161000	0.77505	2.625000	0.88918	0.655000	0.94253	CGC		PASS	0.473	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1	NM_173814		6	463	6	463	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78475066	78475066	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr15:78475066T>A	ENST00000258873.4	-	6	930	c.725A>T	c.(724-726)aAg>aTg	p.K242M	ACSBG1_ENST00000541759.1_De_novo_Start_InFrame|ACSBG1_ENST00000560817.1_De_novo_Start_InFrame	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	242					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.K242M(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATTGGCCATCTTGTTTGGAGG	0.527																																						uc002bdh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(724-726)AAG>ATG		lipidosin							142.0	132.0	136.0					15																	78475066		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78475066T>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.725A>T	15.37:g.78475066T>A	ENSP00000258873:p.Lys242Met					ACSBG1_uc010umw.1_Missense_Mutation_p.K238M|ACSBG1_uc010umx.1_Translation_Start_Site|ACSBG1_uc010umy.1_Missense_Mutation_p.K135M	p.K242M	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			6	781	-			242					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.725A>T	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.452924	0.26161	.	.	ENSG00000103740	ENST00000258873	T	0.44881	0.91	5.49	1.85	0.25348	AMP-dependent synthetase/ligase (1);	0.286130	0.31884	N	0.006912	T	0.56124	0.1964	M	0.80616	2.505	0.34849	D	0.741442	D;D	0.64830	0.994;0.959	P;P	0.61275	0.886;0.778	T	0.64368	-0.6424	10	0.66056	D	0.02	-13.6285	5.7163	0.17962	0.0:0.2255:0.1494:0.6251	.	238;242	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	M	242	ENSP00000258873:K242M	ENSP00000258873:K242M	K	-	2	0	ACSBG1	76262121	1.000000	0.71417	0.006000	0.13384	0.229000	0.25112	1.667000	0.37471	0.377000	0.24735	0.533000	0.62120	AAG		PASS	0.527	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		28	361	28	361	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84611716	84611716	+	Missense_Mutation	SNP	C	C	T	rs144077662		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr15:84611716C>T	ENST00000286744.5	+	19	2596	c.2372C>T	c.(2371-2373)aCg>aTg	p.T791M	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T791M	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	791	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T791M(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGCTGCTAACGGATGGCAGC	0.547																																						uc002bjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2371-2373)ACG>ATG		ADAMTS-like 3 precursor		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	73.0	71.0	72.0		2372	4.3	0.1	15	dbSNP_134	72	0,8600		0,0,4300	no	missense	ADAMTSL3	NM_207517.2	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	791/1692	84611716	1,13005	2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611716C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2372C>T	15.37:g.84611716C>T	ENSP00000286744:p.Thr791Met					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.T791M|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.T791M	p.T791M	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		19	2596	+			791			TSP type-1 6.		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.2372C>T	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228000	0.58777	2.27E-4	0.0	ENSG00000156218	ENST00000286744	T	0.52754	0.65	5.19	4.28	0.50868	.	0.188508	0.26163	N	0.025968	T	0.44201	0.1282	L	0.48642	1.525	0.39160	D	0.96238	P;D	0.57899	0.8;0.981	B;P	0.46253	0.15;0.509	T	0.44651	-0.9314	10	0.44086	T	0.13	.	10.3378	0.43860	0.0:0.8407:0.0:0.1593	.	791;791	P82987-2;P82987	.;ATL3_HUMAN	M	791	ENSP00000286744:T791M	ENSP00000286744:T791M	T	+	2	0	ADAMTSL3	82402720	0.997000	0.39634	0.088000	0.20740	0.918000	0.54935	3.594000	0.54008	1.186000	0.42985	0.655000	0.94253	ACG		PASS	0.547	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		23	87	23	87	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88726675	88726675	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr15:88726675A>C	ENST00000360948.2	-	4	530	c.369T>G	c.(367-369)ttT>ttG	p.F123L	NTRK3_ENST00000558676.1_Missense_Mutation_p.F123L|NTRK3_ENST00000317501.3_Missense_Mutation_p.F123L|NTRK3_ENST00000557856.1_Missense_Mutation_p.F123L|NTRK3_ENST00000355254.2_Missense_Mutation_p.F123L|NTRK3_ENST00000394480.2_Missense_Mutation_p.F123L|NTRK3_ENST00000357724.2_Missense_Mutation_p.F123L|NTRK3_ENST00000542733.2_Missense_Mutation_p.F25L|NTRK3_ENST00000540489.2_Missense_Mutation_p.F123L	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	123					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.F123L(3)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTTCTTGGCAAAGGCTCTGG	0.537			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	3	Substitution - Missense(3)		lung(3)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(367-369)TTT>TTG		neurotrophic tyrosine kinase, receptor, type 3							132.0	131.0	131.0					15																	88726675		2201	4299	6500	SO:0001583	missense	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88726675A>C	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.369T>G	15.37:g.88726675A>C	ENSP00000354207:p.Phe123Leu	TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Missense_Mutation_p.F123L|NTRK3_uc002bmf.1_Missense_Mutation_p.F123L|NTRK3_uc010upl.1_Missense_Mutation_p.F25L|NTRK3_uc010bnh.1_Missense_Mutation_p.F123L|NTRK3_uc002bmg.2_Missense_Mutation_p.F123L	p.F123L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		4	531	-			123			LRR 1.|Extracellular (Potential).		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	c.369T>G	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411184	0.83340	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.34	0.294	0.15747	.	0.100392	0.64402	D	0.000001	T	0.75796	0.3898	M	0.70842	2.15	0.39828	D	0.972927	D;P;D;D;D;D	0.89917	0.977;0.649;1.0;0.994;0.99;1.0	P;P;D;D;P;D	0.87578	0.814;0.454;0.998;0.926;0.789;0.992	T	0.74253	-0.3725	10	0.87932	D	0	.	7.5871	0.27999	0.6463:0.0:0.3537:0.0	.	25;123;123;123;123;123	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	L	123;123;123;123;25;123;123	ENSP00000377990:F123L;ENSP00000354207:F123L;ENSP00000350356:F123L;ENSP00000347397:F123L;ENSP00000437773:F25L;ENSP00000444673:F123L;ENSP00000318328:F123L	ENSP00000318328:F123L	F	-	3	2	NTRK3	86527679	0.935000	0.31712	0.999000	0.59377	0.999000	0.98932	0.045000	0.14013	0.012000	0.14892	0.533000	0.62120	TTT		PASS	0.537	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				42	378	42	378	---	---	---	---
SEPT12	124404	broad.mit.edu	37	16	4827908	4827908	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr16:4827908G>A	ENST00000268231.8	-	10	1230	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	SEPT12_ENST00000396693.5_Missense_Mutation_p.R277C	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	323					cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)	p.R323C(1)		NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CCGGGCCCGCGGGGCAGCAGG	0.627																																						uc002cxq.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(967-969)CGC>TGC		septin 12 isoform 2							43.0	43.0	43.0					16																	4827908		2187	4294	6481	SO:0001583	missense	124404				cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity	g.chr16:4827908G>A	AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.967C>T	16.37:g.4827908G>A	ENSP00000268231:p.Arg323Cys					SEPT12_uc002cxr.2_Missense_Mutation_p.R277C|SEPT12_uc010bty.2_RNA	p.R323C	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN			10	1108	-			323					Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	ENST00000268231.8	37	c.967C>T	CCDS10522.1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023648	0.54683	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	T;T	0.54479	0.57;0.58	4.59	2.44	0.29823	.	1.303030	0.05742	N	0.601620	T	0.49898	0.1584	N	0.08118	0	0.30413	N	0.778893	D;D	0.61080	0.989;0.983	P;P	0.56788	0.711;0.806	T	0.56438	-0.7979	10	0.48119	T	0.1	.	12.5969	0.56474	0.0:0.0:0.7035:0.2965	.	277;323	Q8IYM1-2;Q8IYM1	.;SEP12_HUMAN	C	277;323	ENSP00000379922:R277C;ENSP00000268231:R323C	ENSP00000268231:R323C	R	-	1	0	SEPT12	4767909	0.001000	0.12720	0.938000	0.37757	0.449000	0.32228	0.503000	0.22610	1.258000	0.44101	0.462000	0.41574	CGC		PASS	0.627	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251645.2	NM_144605		9	18	9	18	---	---	---	---
ERCC4	2072	broad.mit.edu	37	16	14029165	14029165	+	Missense_Mutation	SNP	C	C	T	rs201179693		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr16:14029165C>T	ENST00000311895.7	+	8	1385	c.1376C>T	c.(1375-1377)tCa>tTa	p.S459L	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	459					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.S459L(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GAAGACAGTTCAAAGAGAATT	0.413			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002dce.2			yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(1375-1377)TCA>TTA	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							71.0	74.0	73.0					16																	14029165		2197	4300	6497	SO:0001583	missense	2072	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr16:14029165C>T	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1376C>T	16.37:g.14029165C>T	ENSP00000310520:p.Ser459Leu					ERCC4_uc010uyz.1_Missense_Mutation_p.S9L	p.S459L	NM_005236	NP_005227	Q92889	XPF_HUMAN			8	1385	+			459					A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	c.1376C>T	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	C	7.289	0.610641	0.14066	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.60672	0.17	5.51	5.51	0.81932	.	1.127620	0.06388	N	0.716513	T	0.56615	0.1997	L	0.53249	1.67	0.09310	N	1	B	0.18013	0.025	B	0.12837	0.008	T	0.42699	-0.9436	10	0.25751	T	0.34	-0.4295	13.4006	0.60881	0.1569:0.8431:0.0:0.0	.	459	Q92889	XPF_HUMAN	L	459;448	ENSP00000310520:S459L	ENSP00000310520:S459L	S	+	2	0	ERCC4	13936666	0.024000	0.19004	0.005000	0.12908	0.186000	0.23388	2.663000	0.46774	2.581000	0.87130	0.655000	0.94253	TCA		PASS	0.413	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		28	109	28	109	---	---	---	---
UMOD	7369	broad.mit.edu	37	16	20359547	20359547	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr16:20359547G>C	ENST00000570689.1	-	4	1117	c.971C>G	c.(970-972)aCt>aGt	p.T324S	UMOD_ENST00000396138.4_Missense_Mutation_p.T373S|UMOD_ENST00000424589.1_Missense_Mutation_p.T357S|UMOD_ENST00000396134.2_Missense_Mutation_p.T357S|UMOD_ENST00000396142.2_Missense_Mutation_p.T324S|UMOD_ENST00000302509.4_Missense_Mutation_p.T324S			P07911	UROM_HUMAN	uromodulin	324					cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)	p.T324S(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGCCTCACCAGTGATGTTGAA	0.557																																						uc002dgz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(970-972)ACT>AGT		uromodulin precursor							178.0	159.0	165.0					16																	20359547		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20359547G>C	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.971C>G	16.37:g.20359547G>C	ENSP00000460548:p.Thr324Ser					UMOD_uc002dha.2_Missense_Mutation_p.T324S|UMOD_uc002dhb.2_Missense_Mutation_p.T357S	p.T324S	NM_003361	NP_003352	P07911	UROM_HUMAN			4	1100	-			324					B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.971C>G	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	G	1.439	-0.568134	0.03910	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99	4.64	4.64	0.57946	.	0.418985	0.20354	N	0.093988	D	0.94341	0.8181	L	0.28694	0.88	0.22918	N	0.998568	B;B	0.13145	0.007;0.0	B;B	0.12837	0.008;0.002	T	0.81017	-0.1123	10	0.02654	T	1	-16.1671	12.8755	0.57988	0.0:0.0:1.0:0.0	.	357;324	E9PEA4;P07911	.;UROM_HUMAN	S	324;357;357;324;302;324	ENSP00000379438:T357S;ENSP00000416346:T357S;ENSP00000306279:T324S;ENSP00000379446:T324S	ENSP00000306279:T324S	T	-	2	0	UMOD	20267048	0.771000	0.28555	0.090000	0.20809	0.765000	0.43378	4.710000	0.61873	2.400000	0.81607	0.561000	0.74099	ACT		PASS	0.557	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			6	261	6	261	---	---	---	---
ACSM2B	348158	broad.mit.edu	37	16	20548681	20548681	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr16:20548681C>A	ENST00000329697.6	-	14	1801	c.1633G>T	c.(1633-1635)Gag>Tag	p.E545*	ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.E545*|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.E466*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.E545*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	545					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.E545*(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGACAAACTCTATCTGTTGA	0.483																																						uc002dhj.3																			1	Substitution - Nonsense(1)		lung(1)	skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1633-1635)GAG>TAG		acyl-CoA synthetase medium-chain family member							168.0	158.0	161.0					16																	20548681		2202	4298	6500	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548681C>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1633G>T	16.37:g.20548681C>A	ENSP00000327453:p.Glu545*					ACSM2B_uc002dhk.3_Nonsense_Mutation_p.E545*	p.E545*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			15	1843	-			545					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.1633G>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	C	9.101	1.004248	0.19199	.	.	ENSG00000066813	ENST00000329697	.	.	.	3.09	3.09	0.35607	.	0.000000	0.44097	D	0.000486	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-29.7383	14.2581	0.66065	0.0:1.0:0.0:0.0	.	.	.	.	X	545	.	ENSP00000327453:E545X	E	-	1	0	ACSM2B	20456182	0.999000	0.42202	0.877000	0.34402	0.159000	0.22180	4.308000	0.59129	1.707000	0.51288	0.609000	0.83330	GAG		PASS	0.483	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617		5	359	5	359	---	---	---	---
ERI2	112479	broad.mit.edu	37	16	20812550	20812550	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr16:20812550T>A	ENST00000357967.4	-	5	477	c.435A>T	c.(433-435)aaA>aaT	p.K145N	ERI2_ENST00000564349.1_Missense_Mutation_p.K52N|ERI2_ENST00000569729.1_Missense_Mutation_p.K145N|ERI2_ENST00000563117.1_Missense_Mutation_p.K52N|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000300005.3_Missense_Mutation_p.K145N	NM_001142725.1	NP_001136197.1	A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	145	Exonuclease.						exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.K145N(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						ATGCACATAATTTTACTTCAG	0.318																																						uc010vbb.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)	1						c.(433-435)AAA>AAT		exoribonuclease 2 isoform 1							74.0	81.0	79.0					16																	20812550		2201	4300	6501	SO:0001583	missense	112479					intracellular	exonuclease activity|nucleic acid binding|zinc ion binding	g.chr16:20812550T>A	BC010503	CCDS10590.1, CCDS45436.1	16p12.3	2014-02-18	2009-10-07	2008-12-16	ENSG00000196678	ENSG00000196678		"""Enhanced RNAi three prime mRNA exonucleases"""	30541	protein-coding gene	gene with protein product	"""enhanced RNAi three prime mRNA exonuclease homolog 2 (C.elegans)"", ""exoribonuclease 2"", ""zinc finger, GRF-type containing 5"""		"""exonuclease domain containing 1"""	EXOD1		10819331	Standard	NM_080663		Approved	KIAA1504, MGC16943, ZGRF5	uc010vbb.1	A8K979	OTTHUMG00000131557	ENST00000357967.4:c.435A>T	16.37:g.20812550T>A	ENSP00000350651:p.Lys145Asn					ERI2_uc002dht.3_Missense_Mutation_p.K52N|ERI2_uc002dhs.2_Missense_Mutation_p.K145N|ERI2_uc010bwh.2_Missense_Mutation_p.K52N|ERI2_uc010vbc.1_5'UTR|ERI2_uc002dhu.1_Missense_Mutation_p.K145N	p.K145N	NM_001142725	NP_001136197	A8K979	ERI2_HUMAN			5	478	-			145			Exonuclease.		Q6ZSJ2|Q96FR9|Q9P224|Q9Y6V3	Missense_Mutation	SNP	ENST00000357967.4	37	c.435A>T	CCDS45436.1	.	.	.	.	.	.	.	.	.	.	T	7.438	0.640181	0.14386	.	.	ENSG00000196678	ENST00000300005;ENST00000357967	T;T	0.44482	0.92;0.92	5.77	-0.657	0.11432	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.090722	0.85682	D	0.000000	T	0.27278	0.0669	L	0.43152	1.355	0.80722	D	1	B;B;B	0.25521	0.077;0.128;0.027	B;B;B	0.29524	0.103;0.063;0.019	T	0.03651	-1.1016	10	0.29301	T	0.29	-10.6482	2.8827	0.05652	0.1051:0.3011:0.109:0.4848	.	145;145;145	A8K979;A8K979-3;A8K979-4	ERI2_HUMAN;.;.	N	145	ENSP00000300005:K145N;ENSP00000350651:K145N	ENSP00000300005:K145N	K	-	3	2	ERI2	20720051	0.046000	0.20272	0.327000	0.25402	0.797000	0.45037	0.039000	0.13884	-0.326000	0.08564	-1.134000	0.01955	AAA		PASS	0.318	ERI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_080663		22	90	22	90	---	---	---	---
IL27	246778	broad.mit.edu	37	16	28515293	28515293	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr16:28515293T>A	ENST00000356897.1	-	2	132	c.110A>T	c.(109-111)cAg>cTg	p.Q37L		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	0					inflammatory response (GO:0006954)	extracellular space (GO:0005615)		p.Q37L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						CAGGCTCAGCTGGGGCCTCCC	0.637																																						uc002dqc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(109-111)CAG>CTG		interleukin 27 precursor							33.0	37.0	35.0					16																	28515293		2197	4300	6497	SO:0001583	missense	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28515293T>A	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"""Interleukins and interleukin receptors"""	19157	protein-coding gene	gene with protein product		608273	"""interleukin 30"""	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.110A>T	16.37:g.28515293T>A	ENSP00000349365:p.Gln37Leu					uc010vct.1_Intron	p.Q37L	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN			2	133	-			37					B1AM69	Missense_Mutation	SNP	ENST00000356897.1	37	c.110A>T	CCDS10633.1	.	.	.	.	.	.	.	.	.	.	T	8.045	0.764689	0.15914	.	.	ENSG00000197272	ENST00000356897	T	0.30981	1.51	3.04	-1.82	0.07857	.	0.885835	0.09204	U	0.834307	T	0.08358	0.0208	N	0.02011	-0.69	0.20196	N	0.99992	B	0.02656	0.0	B	0.01281	0.0	T	0.32214	-0.9915	10	0.09084	T	0.74	-4.7652	2.7465	0.05268	0.4045:0.0:0.3823:0.2132	.	37	Q8NEV9	IL27A_HUMAN	L	37	ENSP00000349365:Q37L	ENSP00000349365:Q37L	Q	-	2	0	IL27	28422794	0.038000	0.19896	0.943000	0.38184	0.942000	0.58702	0.275000	0.18698	-0.520000	0.06435	-1.035000	0.02400	CAG		PASS	0.637	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214114.1	NM_145659		38	102	38	102	---	---	---	---
CDH13	1012	broad.mit.edu	37	16	83712002	83712002	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr16:83712002G>T	ENST00000566620.1	+	10	1764	c.1474G>T	c.(1474-1476)Gtg>Ttg	p.V492L	CDH13_ENST00000428848.3_Missense_Mutation_p.V453L|CDH13_ENST00000268613.10_Missense_Mutation_p.V539L	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	492	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)	p.V492L(1)		large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GGACCTCTCTGTGGGCAGCGT	0.617																																						uc002fgx.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1474-1476)GTG>TTG		cadherin 13 preproprotein							68.0	72.0	71.0					16																	83712002		2113	4242	6355	SO:0001583	missense	1012				adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding	g.chr16:83712002G>T	U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.1474G>T	16.37:g.83712002G>T	ENSP00000454435:p.Val492Leu					CDH13_uc010vns.1_Missense_Mutation_p.V539L|CDH13_uc010vnt.1_Missense_Mutation_p.V238L|CDH13_uc010vnu.1_Missense_Mutation_p.V453L	p.V492L	NM_001257	NP_001248	P55290	CAD13_HUMAN		COAD - Colon adenocarcinoma(5;0.0268)	10	1594	+		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)	492			Cadherin 4.		A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Missense_Mutation	SNP	ENST00000566620.1	37	c.1474G>T	CCDS58486.1	.	.	.	.	.	.	.	.	.	.	G	8.449	0.852633	0.17106	.	.	ENSG00000140945	ENST00000268613;ENST00000428848;ENST00000536143;ENST00000538855;ENST00000539548;ENST00000540531	T	0.53640	0.61	4.9	3.84	0.44239	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.31796	0.0808	N	0.26042	0.785	0.80722	D	1	B;B;B	0.14012	0.009;0.002;0.005	B;B;B	0.18263	0.008;0.021;0.011	T	0.21075	-1.0256	9	0.48119	T	0.1	.	6.2167	0.20659	0.3004:0.0:0.6996:0.0	.	453;539;492	B7Z590;B7Z9B1;P55290	.;.;CAD13_HUMAN	L	539;492;453;194;51;182	ENSP00000268613:V539L	ENSP00000268613:V539L	V	+	1	0	CDH13	82269503	0.476000	0.25901	0.999000	0.59377	0.330000	0.28571	0.892000	0.28322	2.277000	0.76020	0.655000	0.94253	GTG		PASS	0.617	CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257		37	123	37	123	---	---	---	---
FANCA	2175	broad.mit.edu	37	16	89858948	89858948	+	Silent	SNP	A	A	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr16:89858948A>G	ENST00000389301.3	-	12	1044	c.1014T>C	c.(1012-1014)gaT>gaC	p.D338D	FANCA_ENST00000568369.1_Silent_p.D338D	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	338					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.D338D(1)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TCTGAACAGCATCAGATGCTG	0.517			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc002fou.1			yes	Rec		Fanconi anaemia A	16	16q24.3	2175	D|Mis|N|F|S	"""Fanconi anemia, complementation group A"""			L		AML|leukemia			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(2)|central_nervous_system(1)|skin(1)	6						c.(1012-1014)GAT>GAC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia, complementation group A isoform							60.0	47.0	52.0					16																	89858948		2198	4300	6498	SO:0001819	synonymous_variant	2175	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89858948A>G	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1014T>C	16.37:g.89858948A>G						FANCA_uc010vpn.1_Silent_p.D338D	p.D338D	NM_000135	NP_000126	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	12	1056	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	338					A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.1014T>C	CCDS32515.1																																																																																				PASS	0.517	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1			25	117	25	117	---	---	---	---
SPIRE2	84501	broad.mit.edu	37	16	89936619	89936619	+	Missense_Mutation	SNP	G	G	A	rs574309721		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr16:89936619G>A	ENST00000378247.3	+	15	2127	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R647Q	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	695					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.R695Q(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACTACGCCACGACGCAGTCGC	0.607													g|||	1	0.000199681	0.0	0.0	5008	,	,		17081	0.0		0.0	False		,,,				2504	0.001					uc002foz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2083-2085)CGA>CAA		spire homolog 2							108.0	67.0	81.0					16																	89936619		2195	4300	6495	SO:0001583	missense	84501				transport	cytoplasm|cytoskeleton	actin binding	g.chr16:89936619G>A	AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.2084G>A	16.37:g.89936619G>A	ENSP00000367494:p.Arg695Gln					SPIRE2_uc010ciw.1_Missense_Mutation_p.R647Q|SPIRE2_uc002fpa.1_Missense_Mutation_p.R647Q|SPIRE2_uc010cix.1_Missense_Mutation_p.R562Q	p.R695Q	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0286)	15	2136	+		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)	695					A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Missense_Mutation	SNP	ENST00000378247.3	37	c.2084G>A	CCDS32516.1	.	.	.	.	.	.	.	.	.	.	g	12.47	1.948080	0.34377	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	T;T	0.54479	0.57;0.71	4.98	0.852	0.18995	Zinc finger, FYVE/PHD-type (1);	0.333267	0.29932	N	0.010832	T	0.41994	0.1183	M	0.76002	2.32	0.58432	D	0.999997	B;B;B;P	0.38167	0.36;0.098;0.36;0.621	B;B;B;B	0.21360	0.034;0.021;0.034;0.034	T	0.36311	-0.9753	10	0.72032	D	0.01	-23.6081	7.5867	0.27998	0.3479:0.0:0.6521:0.0	.	562;647;647;695	Q8WWL2-4;Q8WWL2-2;Q8WWL2-3;Q8WWL2	.;.;.;SPIR2_HUMAN	Q	695;647	ENSP00000367494:R695Q;ENSP00000376782:R647Q	ENSP00000367494:R695Q	R	+	2	0	SPIRE2	88464120	0.006000	0.16342	0.007000	0.13788	0.448000	0.32197	0.754000	0.26390	0.109000	0.17891	-0.283000	0.09986	CGA		PASS	0.607	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421843.1	XM_047462		4	17	4	17	---	---	---	---
DVL2	1856	broad.mit.edu	37	17	7133693	7133693	+	Silent	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr17:7133693C>G	ENST00000005340.5	-	3	603	c.321G>C	c.(319-321)cgG>cgC	p.R107R	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.R107R	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	107					canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration in hindbrain (GO:0021535)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hippo signaling (GO:0035329)|neural tube closure (GO:0001843)|non-canonical Wnt signaling pathway (GO:0035567)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|segment specification (GO:0007379)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|clathrin-coated endocytic vesicle (GO:0045334)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|identical protein binding (GO:0042802)	p.R107R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCAGTTCTGCCCGAGGCTCAT	0.587																																						uc002gez.1																			1	Substitution - coding silent(1)		lung(1)	lung(1)|kidney(1)	2						c.(319-321)CGG>CGC		dishevelled 2							72.0	81.0	78.0					17																	7133693		2203	4300	6503	SO:0001819	synonymous_variant	1856				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity	g.chr17:7133693C>G	BC014844	CCDS11091.1	17p13.1	2013-05-22	2013-05-22		ENSG00000004975	ENSG00000004975		"""Dishevelled homologs"""	3086	protein-coding gene	gene with protein product		602151	"""dishevelled 2 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 2 (Drosophila)"""			8662242	Standard	NM_004422		Approved		uc002gez.1	O14641	OTTHUMG00000102155	ENST00000005340.5:c.321G>C	17.37:g.7133693C>G						DVL2_uc010vtr.1_Silent_p.R107R|DVL2_uc010vts.1_Silent_p.R9R|DVL2_uc010clz.1_Silent_p.R107R	p.R107R	NM_004422	NP_004413	O14641	DVL2_HUMAN			3	603	-			107					D3DTN3|Q53XM0	Silent	SNP	ENST00000005340.5	37	c.321G>C	CCDS11091.1																																																																																				PASS	0.587	DVL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219999.2	NM_004422		27	120	27	120	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	rs11540652		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr17:7577538C>A	ENST00000269305.4	-	7	932	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_ENST00000413465.2_Missense_Mutation_p.R248L|TP53_ENST00000420246.2_Missense_Mutation_p.R248L|TP53_ENST00000455263.2_Missense_Mutation_p.R248L|TP53_ENST00000445888.2_Missense_Mutation_p.R248L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R248L	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	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		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CTG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							152.0	112.0	126.0					17																	7577538		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>T	17.37:g.7577538C>A	ENSP00000269305:p.Arg248Leu	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_uc002gig.1_Missense_Mutation_p.R248L|TP53_uc002gih.2_Missense_Mutation_p.R248L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116L|TP53_uc010cng.1_Missense_Mutation_p.R116L|TP53_uc002gii.1_Missense_Mutation_p.R116L|TP53_uc010cnh.1_Missense_Mutation_p.R248L|TP53_uc010cni.1_Missense_Mutation_p.R248L|TP53_uc002gij.2_Missense_Mutation_p.R248L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155L|TP53_uc002gio.2_Missense_Mutation_p.R116L	p.R248L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		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.743G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488044	0.84854	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99862	0.9935	M	0.92507	3.315	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.91635	0.996;0.996;0.999;0.996;0.996;0.997	D	0.96931	0.9681	10	0.87932	D	0	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	L	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248L;ENSP00000352610:R248L;ENSP00000269305:R248L;ENSP00000398846:R248L;ENSP00000391127:R248L;ENSP00000391478:R248L;ENSP00000425104:R116L;ENSP00000423862:R155L	ENSP00000269305:R248L	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		PASS	0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	88	37	88	---	---	---	---
NCOR1	9611	broad.mit.edu	37	17	15978954	15978954	+	Silent	SNP	C	C	A	rs144012103		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr17:15978954C>A	ENST00000268712.3	-	27	3821	c.3564G>T	c.(3562-3564)tcG>tcT	p.S1188S	NCOR1_ENST00000395851.1_Silent_p.S1204S|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1188	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.S1188S(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGGCATTCTCGAAATGGACC	0.493																																						uc002gpo.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1)	5						c.(3562-3564)TCG>TCT		nuclear receptor co-repressor 1							157.0	140.0	146.0					17																	15978954		2203	4300	6503	SO:0001819	synonymous_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15978954C>A	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3564G>T	17.37:g.15978954C>A						NCOR1_uc002gpn.2_Silent_p.S1204S|NCOR1_uc002gpp.1_Silent_p.S1095S|NCOR1_uc010vwb.1_Intron|NCOR1_uc010coy.2_Silent_p.S96S|NCOR1_uc010vwc.1_5'UTR	p.S1188S	NM_006311	NP_006302	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	27	3804	-			1188			Interaction with ETO.		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Silent	SNP	ENST00000268712.3	37	c.3564G>T	CCDS11175.1																																																																																				PASS	0.493	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311		4	269	4	269	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29670080	29670080	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr17:29670080G>T	ENST00000358273.4	+	48	7499	c.7116G>T	c.(7114-7116)aaG>aaT	p.K2372N	NF1_ENST00000444181.2_Missense_Mutation_p.K165N|NF1_ENST00000417592.2_Missense_Mutation_p.K85N|NF1_ENST00000356175.3_Missense_Mutation_p.K2351N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2372					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.?(3)|p.K2372N(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)		GGCACTGCAAGCAAATGGATC	0.363			"""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)																												uc002hgg.2			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	D|Mis|N|F|S|O	neurofibromatosis type 1 gene			O		neurofibroma|glioma	neurofibroma|glioma		13	Whole gene deletion(8)|Unknown(3)|Substitution - Missense(2)		soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(1)	soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1)	330						c.(7114-7116)AAG>AAT		neurofibromin isoform 1							111.0	113.0	112.0					17																	29670080		2203	4300	6503	SO:0001583	missense	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.chr17:29670080G>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.7116G>T	17.37:g.29670080G>T	ENSP00000351015:p.Lys2372Asn	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Missense_Mutation_p.K2351N|NF1_uc010cso.2_Missense_Mutation_p.K560N|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_RNA	p.K2372N	NM_001042492	NP_001035957	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)	48	7449	+		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)	2372					O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	ENST00000358273.4	37	c.7116G>T	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	18.92	3.726319	0.69074	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735;ENST00000444181;ENST00000417592	T;T;T;T	0.66815	1.42;1.42;1.42;-0.23	5.44	0.0704	0.14378	Armadillo-type fold (2);	0.110215	0.64402	D	0.000014	T	0.77611	0.4156	M	0.77313	2.365	0.48762	D	0.999705	D;P	0.61080	0.989;0.938	D;P	0.75020	0.985;0.614	T	0.75830	-0.3179	10	0.52906	T	0.07	.	10.2237	0.43212	0.4793:0.0:0.5207:0.0	.	2351;2372	P21359-2;P21359	.;NF1_HUMAN	N	2372;2351;2017;165;85	ENSP00000351015:K2372N;ENSP00000348498:K2351N;ENSP00000389907:K2017N;ENSP00000396481:K165N	ENSP00000348498:K2351N	K	+	3	2	NF1	26694206	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	1.135000	0.31454	0.031000	0.15407	0.563000	0.77884	AAG		PASS	0.363	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		4	144	4	144	---	---	---	---
TTC25	83538	broad.mit.edu	37	17	40113408	40113408	+	RNA	SNP	C	C	T	rs370439442		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr17:40113408C>T	ENST00000591658.1	+	0	1323							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)		p.D484D(1)		endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGGCCTTGGACGATGCCAACA	0.498																																						uc002hyj.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1450-1452)GAC>GAT		tetratricopeptide repeat domain 25		C		0,3816		0,0,1908	44.0	44.0	44.0		1254	-8.2	0.7	17		44	1,8235		0,1,4117	no	coding-synonymous	TTC25	NM_031421.2		0,1,6025	TT,TC,CC		0.0121,0.0,0.0083		418/607	40113408	1,12051	1908	4118	6026			83538					cytoplasm	protein binding	g.chr17:40113408C>T	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40113408C>T						TTC25_uc010cxt.2_RNA	p.D484D	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN			10	1541	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)	484					Q6NX40|Q6PJ04|Q9H0K5	Silent	SNP	ENST00000591658.1	37	c.1452C>T																																																																																					PASS	0.498	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421		4	13	4	13	---	---	---	---
B4GALNT2	124872	broad.mit.edu	37	17	47237971	47237971	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr17:47237971C>A	ENST00000300404.2	+	7	973	c.914C>A	c.(913-915)cCt>cAt	p.P305H	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.P245H|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.P219H	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	305					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)	p.P305H(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			ATCCGCCATCCTGTCATACCC	0.532																																					GBM(124;244 1635 8663 18097 33175)	uc002ion.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(913-915)CCT>CAT		beta-1,4-N-acetyl-galactosaminyl transferase 2							229.0	205.0	213.0					17																	47237971		2203	4300	6503	SO:0001583	missense	124872				lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	g.chr17:47237971C>A	AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.914C>A	17.37:g.47237971C>A	ENSP00000300404:p.Pro305His					B4GALNT2_uc010wlt.1_Missense_Mutation_p.P219H|B4GALNT2_uc010wlu.1_Missense_Mutation_p.P245H	p.P305H	NM_153446	NP_703147	Q8NHY0	B4GN2_HUMAN	all cancers(6;0.000316)		7	973	+			305			Lumenal (Potential).		B4DZE4|Q14CP1|Q86Y40	Missense_Mutation	SNP	ENST00000300404.2	37	c.914C>A	CCDS11544.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741799	0.49151	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	T;T;T	0.24538	1.86;1.85;2.15	5.26	3.21	0.36854	.	0.271689	0.29791	N	0.011200	T	0.43634	0.1256	M	0.66939	2.045	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.71414	0.973;0.946	T	0.19063	-1.0317	10	0.46703	T	0.11	-4.4141	8.9441	0.35747	0.1483:0.7727:0.0:0.079	.	245;305	Q8NHY0-2;Q8NHY0	.;B4GN2_HUMAN	H	219;245;305	ENSP00000425510:P219H;ENSP00000377022:P245H;ENSP00000300404:P305H	ENSP00000300404:P305H	P	+	2	0	B4GALNT2	44592970	0.149000	0.22717	0.017000	0.16124	0.911000	0.54048	1.654000	0.37334	0.561000	0.29186	0.561000	0.74099	CCT		PASS	0.532	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364477.1	NM_153446		6	476	6	476	---	---	---	---
ABCA10	10349	broad.mit.edu	37	17	67152038	67152038	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr17:67152038G>T	ENST00000269081.4	-	30	4393	c.3484C>A	c.(3484-3486)Ccc>Acc	p.P1162T	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1162					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.P1162T(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCCGGATTGGGATGAGTTTCT	0.413																																						uc010dfa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3484-3486)CCC>ACC		ATP-binding cassette, sub-family A, member 10							129.0	119.0	123.0					17																	67152038		2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67152038G>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.3484C>A	17.37:g.67152038G>T	ENSP00000269081:p.Pro1162Thr					ABCA10_uc010wqs.1_Missense_Mutation_p.P154T|ABCA10_uc010wqt.1_RNA	p.P1162T	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			30	4363	-	Breast(10;6.95e-12)		1162					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.3484C>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	G	3.744	-0.052932	0.07362	.	.	ENSG00000154263	ENST00000269081	D	0.87179	-2.22	3.07	3.07	0.35406	.	0.000000	0.33712	U	0.004632	T	0.80082	0.4558	L	0.41961	1.31	0.58432	D	0.999999	B;B	0.28378	0.053;0.209	B;B	0.26202	0.055;0.067	T	0.76052	-0.3100	10	0.31617	T	0.26	.	9.7438	0.40435	0.0:0.0:0.7927:0.2073	.	154;1162	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	T	1162	ENSP00000269081:P1162T	ENSP00000269081:P1162T	P	-	1	0	ABCA10	64663633	0.065000	0.20965	0.531000	0.27976	0.127000	0.20565	1.923000	0.40055	1.692000	0.51112	0.557000	0.71058	CCC		PASS	0.413	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282		31	143	31	143	---	---	---	---
SSTR2	6752	broad.mit.edu	37	17	71166457	71166457	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr17:71166457C>A	ENST00000357585.2	+	2	1368	c.999C>A	c.(997-999)agC>agA	p.S333R	SSTR2_ENST00000315332.2_Intron|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	333					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cell proliferation (GO:0008285)|peristalsis (GO:0030432)|regulation of muscle contraction (GO:0006937)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|somatostatin receptor activity (GO:0004994)	p.S333R(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)		Octreotide(DB00104)|Pasireotide(DB06663)|Vapreotide(DB04894)	TCAAGGTGAGCGGCACAGATG	0.522																																						uc002jje.2																			1	Substitution - Missense(1)		lung(1)		0						c.(997-999)AGC>AGA		somatostatin receptor 2							87.0	78.0	81.0					17																	71166457		2203	4300	6503	SO:0001583	missense	6752				digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	g.chr17:71166457C>A		CCDS11691.1	17q24	2012-08-08				ENSG00000180616		"""GPCR / Class A : Somatostatin receptors"""	11331	protein-coding gene	gene with protein product		182452				8449518	Standard	NM_001050		Approved		uc002jje.3	P30874		ENST00000357585.2:c.999C>A	17.37:g.71166457C>A	ENSP00000350198:p.Ser333Arg						p.S333R	NM_001050	NP_001041	P30874	SSR2_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		2	1359	+			333			Cytoplasmic (Potential).		A8K3Y0|B2R9P7|Q4VBP0|Q96GE0|Q96TF2|Q9BWH1	Missense_Mutation	SNP	ENST00000357585.2	37	c.999C>A	CCDS11691.1	.	.	.	.	.	.	.	.	.	.	C	6.066	0.380583	0.11466	.	.	ENSG00000180616	ENST00000357585	T	0.35421	1.31	5.19	1.82	0.25136	.	0.361006	0.33127	N	0.005245	T	0.21550	0.0519	L	0.34521	1.04	0.80722	D	1	B	0.24533	0.105	B	0.26969	0.075	T	0.06373	-1.0830	10	0.06757	T	0.87	.	8.5657	0.33538	0.0:0.517:0.0:0.483	.	333	P30874	SSR2_HUMAN	R	333	ENSP00000350198:S333R	ENSP00000350198:S333R	S	+	3	2	SSTR2	68678052	0.072000	0.21174	1.000000	0.80357	0.947000	0.59692	-0.643000	0.05421	0.545000	0.28902	-0.150000	0.13652	AGC		PASS	0.522	SSTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441633.1			5	211	5	211	---	---	---	---
LAMA1	284217	broad.mit.edu	37	18	6973094	6973094	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr18:6973094T>C	ENST00000389658.3	-	47	6829	c.6736A>G	c.(6736-6738)Aca>Gca	p.T2246A	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2246	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.T2246A(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AACATGAGTGTTGAATTGTTT	0.368																																						uc002knm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1)	21						c.(6736-6738)ACA>GCA		laminin, alpha 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						224.0	213.0	217.0					18																	6973094		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6973094T>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6736A>G	18.37:g.6973094T>C	ENSP00000374309:p.Thr2246Ala					LAMA1_uc010wzj.1_Missense_Mutation_p.T1722A	p.T2246A	NM_005559	NP_005550	P25391	LAMA1_HUMAN			47	6830	-		Colorectal(10;0.172)	2246			Laminin G-like 1.			Missense_Mutation	SNP	ENST00000389658.3	37	c.6736A>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.729364	0.30684	.	.	ENSG00000101680	ENST00000389658	T	0.75704	-0.96	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.065705	0.64402	D	0.000011	T	0.69531	0.3121	L	0.52905	1.665	0.45930	D	0.998769	P	0.40282	0.711	B	0.39805	0.31	T	0.66960	-0.5791	10	0.11794	T	0.64	.	15.9332	0.79683	0.0:0.0:0.0:1.0	.	2246	P25391	LAMA1_HUMAN	A	2246	ENSP00000374309:T2246A	ENSP00000374309:T2246A	T	-	1	0	LAMA1	6963094	1.000000	0.71417	0.171000	0.22900	0.888000	0.51559	4.584000	0.60971	2.229000	0.72834	0.523000	0.50628	ACA		PASS	0.368	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		137	477	137	477	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8798272	8798272	+	Nonsense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr18:8798272G>T	ENST00000306329.11	+	8	3376	c.3376G>T	c.(3376-3378)Gga>Tga	p.G1126*	SOGA2_ENST00000359865.3_Nonsense_Mutation_p.G807*|SOGA2_ENST00000517570.1_Nonsense_Mutation_p.G766*|SOGA2_ENST00000518815.1_Nonsense_Mutation_p.G122*|SOGA2_ENST00000306285.7_Nonsense_Mutation_p.G122*|SOGA2_ENST00000400050.3_Nonsense_Mutation_p.G766*														p.G807*(1)									CGCGGACAGGGGACAGCCCCA	0.632																																						uc002knr.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2419-2421)GGA>TGA		hypothetical protein LOC23255							38.0	33.0	35.0					18																	8798272		2203	4300	6503	SO:0001587	stop_gained	23255							g.chr18:8798272G>T																												ENST00000306329.11:c.3376G>T	18.37:g.8798272G>T	ENSP00000305027:p.Gly1126*					KIAA0802_uc002knq.2_Nonsense_Mutation_p.G766*|KIAA0802_uc002kns.2_Nonsense_Mutation_p.G137*	p.G807*	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN			10	2561	+			1117						Nonsense_Mutation	SNP	ENST00000306329.11	37	c.2419G>T		.	.	.	.	.	.	.	.	.	.	G	20.9	4.073176	0.76415	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	.	.	.	5.31	0.181	0.15073	.	1.019340	0.07832	N	0.961559	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-0.3342	4.5765	0.12236	0.3587:0.2212:0.4201:0.0	.	.	.	.	X	828;766;807;766;122	.	ENSP00000303670:G122X	G	+	1	0	CCDC165	8788272	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.059000	0.14322	0.329000	0.23460	-0.145000	0.13849	GGA		PASS	0.632	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			13	47	13	47	---	---	---	---
DSG2	1829	broad.mit.edu	37	18	29125982	29125982	+	Missense_Mutation	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr18:29125982C>T	ENST00000261590.8	+	15	2842	c.2633C>T	c.(2632-2634)tCa>tTa	p.S878L	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	878					apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S878L(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATGGTTAATTCAGAGAATACC	0.388																																						uc002kwu.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(2632-2634)TCA>TTA		desmoglein 2 preproprotein							73.0	70.0	71.0					18																	29125982		1863	4102	5965	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29125982C>T	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.2633C>T	18.37:g.29125982C>T	ENSP00000261590:p.Ser878Leu					uc002kwv.3_Intron	p.S878L	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		15	2821	+			878			Cytoplasmic (Potential).		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.2633C>T	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.271411	0.40194	.	.	ENSG00000046604	ENST00000261590	T	0.59364	0.27	5.9	5.03	0.67393	.	0.576151	0.15549	N	0.256545	T	0.53286	0.1787	L	0.54323	1.7	0.30162	N	0.802065	B	0.13145	0.007	B	0.12837	0.008	T	0.56390	-0.7987	10	0.66056	D	0.02	.	10.9457	0.47299	0.0:0.856:0.0:0.144	.	878	Q14126	DSG2_HUMAN	L	878	ENSP00000261590:S878L	ENSP00000261590:S878L	S	+	2	0	DSG2	27379980	0.001000	0.12720	0.016000	0.15963	0.021000	0.10359	1.111000	0.31159	1.497000	0.48584	0.591000	0.81541	TCA		PASS	0.388	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1	NM_001943		69	198	69	198	---	---	---	---
PIK3C3	5289	broad.mit.edu	37	18	39595531	39595531	+	Splice_Site	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr18:39595531G>T	ENST00000262039.4	+	12	1502		c.e12+1		PIK3C3_ENST00000398870.3_Splice_Site	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3						autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.?(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AAATCTGGAAGTGAGTACAAA	0.373										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2																			1	Unknown(1)		lung(1)	lung(8)|ovary(1)|breast(1)	10						c.e12+1		catalytic phosphatidylinositol 3-kinase 3							84.0	86.0	85.0					18																	39595531		2203	4300	6503	SO:0001630	splice_region_variant	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39595531G>T	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1416+1G>T	18.37:g.39595531G>T		TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Splice_Site_p.E409_splice	p.E472_splice	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			12	1474	+								Q15134	Splice_Site	SNP	ENST00000262039.4	37	c.1416_splice	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910189	0.72983	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0732	0.89417	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3C3	37849529	1.000000	0.71417	0.987000	0.45799	0.881000	0.50899	5.504000	0.66968	2.711000	0.92665	0.655000	0.94253	.		PASS	0.373	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1	NM_002647	Intron	4	154	4	154	---	---	---	---
ZNF414	84330	broad.mit.edu	37	19	8577341	8577341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr19:8577341C>A	ENST00000255616.8	-	4	561	c.460G>T	c.(460-462)Gag>Tag	p.E154*	ZNF414_ENST00000393927.4_Nonsense_Mutation_p.E154*	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	154					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E154*(2)		lung(2)	2						GGGAAGGTCTCGGTGCAGCTC	0.607																																						uc002mkf.2																			2	Substitution - Nonsense(2)		lung(2)		0						c.(460-462)GAG>TAG		zinc finger protein 414 isoform 2							159.0	139.0	146.0					19																	8577341		2203	4300	6503	SO:0001587	stop_gained	84330				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:8577341C>A	AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.460G>T	19.37:g.8577341C>A	ENSP00000255616:p.Glu154*					ZNF414_uc002mke.3_Nonsense_Mutation_p.E154*|ZNF414_uc010dwf.2_Nonsense_Mutation_p.E143*	p.E154*	NM_032370	NP_115746	Q96IQ9	ZN414_HUMAN			4	578	-			154			C2H2-type 2.		A8MY94	Nonsense_Mutation	SNP	ENST00000255616.8	37	c.460G>T	CCDS12205.1	.	.	.	.	.	.	.	.	.	.	C	37	6.410265	0.97546	.	.	ENSG00000133250	ENST00000393927;ENST00000255616	.	.	.	4.92	4.92	0.64577	.	0.322257	0.29246	N	0.012711	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-18.5358	15.2043	0.73165	0.0:1.0:0.0:0.0	.	.	.	.	X	154	.	ENSP00000255616:E154X	E	-	1	0	ZNF414	8483341	1.000000	0.71417	0.956000	0.39512	0.992000	0.81027	4.189000	0.58358	2.432000	0.82394	0.561000	0.74099	GAG		PASS	0.607	ZNF414-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460199.2	NM_032370		4	192	4	192	---	---	---	---
KEAP1	9817	broad.mit.edu	37	19	10602907	10602907	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr19:10602907G>T	ENST00000171111.5	-	3	1218	c.671C>A	c.(670-672)tCc>tAc	p.S224Y	KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.S224Y|CTC-429L19.3_ENST00000592671.1_RNA	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	224	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.S224Y(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	TTGGCAGTGGGACAGGTTGAA	0.622																																						uc002moq.1																			1	Substitution - Missense(1)		lung(1)	lung(12)|breast(3)|ovary(1)|pancreas(1)	17						c.(670-672)TCC>TAC		kelch-like ECH-associated protein 1							62.0	49.0	53.0					19																	10602907		2203	4300	6503	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10602907G>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.671C>A	19.37:g.10602907G>T	ENSP00000171111:p.Ser224Tyr					KEAP1_uc002mop.1_5'UTR|KEAP1_uc002mor.1_Missense_Mutation_p.S224Y	p.S224Y	NM_012289	NP_036421	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		3	827	-			224			BACK.		B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.671C>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149908	0.78001	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.71817	-0.6;-0.6	5.75	5.75	0.90469	BTB/Kelch-associated (2);	0.105731	0.64402	D	0.000003	D	0.86502	0.5948	M	0.92784	3.345	0.54753	D	0.999987	D	0.76494	0.999	D	0.69479	0.964	D	0.88781	0.3271	10	0.66056	D	0.02	.	13.084	0.59129	0.0:0.1611:0.8389:0.0	.	224	Q14145	KEAP1_HUMAN	Y	224	ENSP00000171111:S224Y;ENSP00000377245:S224Y	ENSP00000171111:S224Y	S	-	2	0	KEAP1	10463907	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.645000	0.98471	2.719000	0.93026	0.484000	0.47621	TCC		PASS	0.622	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		25	57	25	57	---	---	---	---
FARSA	2193	broad.mit.edu	37	19	13044510	13044510	+	Start_Codon_SNP	SNP	T	T	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr19:13044510T>G	ENST00000314606.4	-	1	19	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	FARSA_ENST00000588025.1_Intron|CTC-425F1.2_ENST00000592636.1_RNA|FARSA_ENST00000423140.2_Start_Codon_SNP_p.M1L	NM_004461.2	NP_004452.1	Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	1					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)	p.M1L(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CCATCCGCCATGACTCCTTCC	0.677																																						uc002mvs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1-3)ATG>CTG		phenylalanyl-tRNA synthetase, alpha subunit	L-Phenylalanine(DB00120)						17.0	13.0	14.0					19																	13044510		2189	4284	6473	SO:0001582	initiator_codon_variant	2193				phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding	g.chr19:13044510T>G	U07424	CCDS12287.1	19p13.2	2014-05-06	2007-02-23	2007-02-23	ENSG00000179115	ENSG00000179115	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	3592	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 1, alpha, cytoplasmic"""	602918	"""phenylalanine-tRNA synthetase-like"", ""phenylalanyl-tRNA synthetase-like, alpha subunit"""	FARSL, FARSLA		9177188	Standard	NM_004461		Approved	CML33	uc002mvs.2	Q9Y285	OTTHUMG00000180569	ENST00000314606.4:c.1A>C	19.37:g.13044510T>G	ENSP00000320309:p.Met1Leu					FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.M1L|FARSA_uc010dyy.1_Missense_Mutation_p.M1L	p.M1L	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN			1	49	-			1					B4E363|Q9NSD8|Q9Y4W8	Missense_Mutation	SNP	ENST00000314606.4	37	c.1A>C	CCDS12287.1	.	.	.	.	.	.	.	.	.	.	T	27.4	4.831870	0.91036	.	.	ENSG00000179115	ENST00000314606;ENST00000423140	T;T	0.61274	0.12;0.7	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	.	.	.	0.80722	D	1	P;D;D	0.54047	0.855;0.964;0.964	P;P;P	0.57101	0.813;0.633;0.633	T	0.75929	-0.3144	9	0.87932	D	0	-18.0274	14.6649	0.68901	0.0:0.0:0.0:1.0	.	1;1;1	B4E363;Q6IBR2;Q9Y285	.;.;SYFA_HUMAN	L	1	ENSP00000320309:M1L;ENSP00000396548:M1L	ENSP00000320309:M1L	M	-	1	0	FARSA	12905510	1.000000	0.71417	0.976000	0.42696	0.551000	0.35334	7.112000	0.77086	2.117000	0.64856	0.459000	0.35465	ATG		PASS	0.677	FARSA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451935.1	NM_004461	Missense_Mutation	2	3	2	3	---	---	---	---
ZNF626	199777	broad.mit.edu	37	19	20807265	20807265	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr19:20807265T>C	ENST00000601440.1	-	4	1564	c.1418A>G	c.(1417-1419)aAa>aGa	p.K473R	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K473R(2)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTATGAATTTTCTTATGTGT	0.388																																						uc002npb.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1417-1419)AAA>AGA		zinc finger protein 626 isoform 1							36.0	18.0	24.0					19																	20807265		1867	3682	5549	SO:0001583	missense	199777				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:20807265T>C	BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.1418A>G	19.37:g.20807265T>C	ENSP00000469958:p.Lys473Arg					ZNF626_uc002npc.1_Missense_Mutation_p.K397R	p.K473R	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN			4	1568	-			473			C2H2-type 11.		Q8N8T4|Q96QM1	Missense_Mutation	SNP	ENST00000601440.1	37	c.1418A>G	CCDS42535.1	.	.	.	.	.	.	.	.	.	.	N	0.006	-2.101795	0.00360	.	.	ENSG00000188171	ENST00000392298;ENST00000453075	.	.	.	0.832	-1.66	0.08265	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13670	0.0331	N	0.02403	-0.565	0.80722	D	1	B	0.09022	0.002	B	0.13407	0.009	T	0.42464	-0.9450	8	0.02654	T	1	.	2.1914	0.03900	0.2908:0.4548:0.0:0.2543	rs55666616	473	Q68DY1	ZN626_HUMAN	R	473;397	.	ENSP00000376118:K473R	K	-	2	0	ZNF626	20599105	0.000000	0.05858	0.046000	0.18839	0.046000	0.14306	-2.543000	0.00934	-1.624000	0.01556	-1.731000	0.00696	AAA		PASS	0.388	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447845.2	NM_145297		3	37	3	37	---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40318157	40318157	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr19:40318157G>C	ENST00000593685.1	-	7	1415	c.947C>G	c.(946-948)tCc>tGc	p.S316C	DYRK1B_ENST00000323039.5_Missense_Mutation_p.S316C|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S316C|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S316C|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S316C			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	316	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)	p.S316C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			CACCTCATTGGAGCCACTGAA	0.642																																						uc002omj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7						c.(946-948)TCC>TGC		dual-specificity tyrosine-(Y)-phosphorylation							38.0	36.0	37.0					19																	40318157		2203	4300	6503	SO:0001583	missense	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40318157G>C	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.947C>G	19.37:g.40318157G>C	ENSP00000469863:p.Ser316Cys					DYRK1B_uc002omi.2_Missense_Mutation_p.S316C|DYRK1B_uc002omk.2_Missense_Mutation_p.S316C	p.S316C	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		7	1227	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		316			Protein kinase.		O75258|O75788|O75789	Missense_Mutation	SNP	ENST00000593685.1	37	c.947C>G	CCDS12543.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.799757	0.50208	.	.	ENSG00000105204	ENST00000323039;ENST00000348817;ENST00000430012	T;T;T	0.66815	-0.23;-0.23;-0.23	4.69	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.62723	1.935	0.58432	D	0.999998	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.15870	0.008;0.014;0.008	T	0.64984	-0.6278	10	0.54805	T	0.06	.	15.0985	0.72253	0.0:0.0:1.0:0.0	.	316;316;316	Q9Y463-2;Q9Y463;Q9Y463-3	.;DYR1B_HUMAN;.	C	316	ENSP00000312789:S316C;ENSP00000221803:S316C;ENSP00000403182:S316C	ENSP00000312789:S316C	S	-	2	0	DYRK1B	45009997	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.825000	0.99386	2.151000	0.67156	0.455000	0.32223	TCC		PASS	0.642	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		55	64	55	64	---	---	---	---
MEGF8	1954	broad.mit.edu	37	19	42853772	42853772	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr19:42853772G>T	ENST00000251268.6	+	14	2420	c.2420G>T	c.(2419-2421)gGc>gTc	p.G807V	MEGF8_ENST00000334370.4_Missense_Mutation_p.G740V	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	807					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.G348V(3)|p.G740V(3)|p.G807V(3)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAGATCCAGGGCCAGCTCAAT	0.647																																						uc002otl.3																			9	Substitution - Missense(9)		endometrium(6)|lung(3)	ovary(1)	1						c.(2218-2220)GGC>GTC		multiple EGF-like-domains 8							61.0	63.0	62.0					19																	42853772		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42853772G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2420G>T	19.37:g.42853772G>T	ENSP00000251268:p.Gly807Val					MEGF8_uc002otm.3_Missense_Mutation_p.G348V	p.G740V	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN			13	2854	+		Prostate(69;0.00682)	807			Extracellular (Potential).		A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.2219G>T		.	.	.	.	.	.	.	.	.	.	G	15.10	2.732674	0.48939	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21543	2.0;2.05	4.54	3.42	0.39159	.	0.077051	0.49916	D	0.000122	T	0.26085	0.0636	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.985	D;P	0.66196	0.942;0.768	T	0.01729	-1.1286	10	0.18276	T	0.48	.	10.9572	0.47364	0.0:0.0:0.812:0.188	.	807;740	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	V	740;807	ENSP00000334219:G740V;ENSP00000251268:G807V	ENSP00000251268:G807V	G	+	2	0	MEGF8	47545612	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	6.085000	0.71343	2.084000	0.62774	0.491000	0.48974	GGC		PASS	0.647	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		10	219	10	219	---	---	---	---
ZNF577	84765	broad.mit.edu	37	19	52380565	52380565	+	Missense_Mutation	SNP	C	C	T	rs375998998		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr19:52380565C>T	ENST00000301399.5	-	6	618	c.253G>A	c.(253-255)Gaa>Aaa	p.E85K	ZNF577_ENST00000420592.1_Missense_Mutation_p.E85K|ZNF577_ENST00000451628.2_Missense_Mutation_p.E85K|ZNF577_ENST00000412216.1_Missense_Mutation_p.E85K|ZNF577_ENST00000485702.1_5'UTR	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	85	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E78K(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GCTGCTCCTTCTGCTATCCCT	0.507																																						uc010yde.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(253-255)GAA>AAA		zinc finger protein 577 isoform a		C	LYS/GLU,LYS/GLU	1,4405		0,1,2202	168.0	154.0	159.0		253,253	2.6	0.0	19		159	0,8600		0,0,4300	no	missense,missense	ZNF577	NM_001135590.1,NM_032679.2	56,56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	85/427,85/486	52380565	1,13005	2203	4300	6503	SO:0001583	missense	84765				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52380565C>T	AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.253G>A	19.37:g.52380565C>T	ENSP00000301399:p.Glu85Lys					ZNF577_uc010ydd.1_RNA|ZNF577_uc002pxx.3_Missense_Mutation_p.E85K|ZNF577_uc002pxv.2_Missense_Mutation_p.E78K|ZNF577_uc002pxw.2_Missense_Mutation_p.E78K	p.E85K	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)	6	644	-		all_neural(266;0.0602)	85			KRAB.		A8K0B4|A8K6Z7|C9JFB9	Missense_Mutation	SNP	ENST00000301399.5	37	c.253G>A	CCDS12842.2	.	.	.	.	.	.	.	.	.	.	.	13.98	2.398144	0.42512	2.27E-4	0.0	ENSG00000161551	ENST00000412216;ENST00000301399;ENST00000420592;ENST00000451628;ENST00000458390	T;T;T;T;T	0.07688	5.54;3.17;3.24;3.24;3.17	2.63	2.63	0.31362	Krueppel-associated box (1);	.	.	.	.	T	0.12646	0.0307	M	0.61703	1.905	0.09310	N	1	P;P	0.46784	0.884;0.762	B;P	0.46076	0.341;0.503	T	0.10314	-1.0635	9	0.39692	T	0.17	.	8.9163	0.35583	0.0:1.0:0.0:0.0	.	85;85	Q9BSK1;Q9BSK1-2	ZN577_HUMAN;.	K	85	ENSP00000394828:E85K;ENSP00000301399:E85K;ENSP00000413476:E85K;ENSP00000389652:E85K;ENSP00000404509:E85K	ENSP00000301399:E85K	E	-	1	0	ZNF577	57072377	0.000000	0.05858	0.006000	0.13384	0.037000	0.13140	0.223000	0.17719	1.744000	0.51775	0.591000	0.81541	GAA		PASS	0.507	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347243.1	NM_032679		78	188	78	188	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57327379	57327379	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr19:57327379C>G	ENST00000326441.9	-	10	2794	c.2431G>C	c.(2431-2433)Gat>Cat	p.D811H	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D811H|PEG3_ENST00000593695.1_Missense_Mutation_p.D685H|PEG3_ENST00000598410.1_Missense_Mutation_p.D687H	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	811					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.D811H(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTGATAGCATCGAAGCTCTGA	0.468																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2431-2433)GAT>CAT		paternally expressed 3 isoform 1							140.0	133.0	136.0					19																	57327379		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327379C>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2431G>C	19.37:g.57327379C>G	ENSP00000326581:p.Asp811His					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.D782H|PEG3_uc002qnv.2_Missense_Mutation_p.D811H|PEG3_uc002qnw.2_Missense_Mutation_p.D687H|PEG3_uc002qnx.2_Missense_Mutation_p.D685H|PEG3_uc010etr.2_Missense_Mutation_p.D811H	p.D811H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2782	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	811					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2431G>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	8.994	0.978354	0.18812	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02606	4.23;4.23	4.11	-0.677	0.11357	.	1.772580	0.02788	N	0.121742	T	0.02688	0.0081	L	0.27053	0.805	.	.	.	B;P;P	0.44478	0.41;0.664;0.836	B;B;B	0.39419	0.072;0.299;0.299	T	0.44159	-0.9346	9	0.27785	T	0.31	-0.2332	6.4663	0.21983	0.0:0.4966:0.0:0.5034	.	687;811;746	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	811	ENSP00000326581:D811H;ENSP00000403051:D811H	ENSP00000326581:D811H	D	-	1	0	ZIM2	62019191	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.145000	0.10265	-0.020000	0.14032	0.585000	0.79938	GAT		PASS	0.468	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			57	537	57	537	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57328935	57328935	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr19:57328935A>T	ENST00000326441.9	-	10	1238	c.875T>A	c.(874-876)aTg>aAg	p.M292K	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.M292K|PEG3_ENST00000593695.1_Missense_Mutation_p.M166K|PEG3_ENST00000598410.1_Missense_Mutation_p.M168K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	292					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.M292K(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGCTTCAGGCATAGTTTTTAG	0.458																																						uc002qnu.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(874-876)ATG>AAG		paternally expressed 3 isoform 1							44.0	51.0	49.0					19																	57328935		2200	4298	6498	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57328935A>T	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.875T>A	19.37:g.57328935A>T	ENSP00000326581:p.Met292Lys					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M263K|PEG3_uc002qnv.2_Missense_Mutation_p.M292K|PEG3_uc002qnw.2_Missense_Mutation_p.M168K|PEG3_uc002qnx.2_Missense_Mutation_p.M166K|PEG3_uc010etr.2_Missense_Mutation_p.M292K	p.M292K	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	1226	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	292					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.875T>A	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	A	12.15	1.852051	0.32699	.	.	ENSG00000198300	ENST00000326441;ENST00000423103;ENST00000292074	T;T	0.02140	4.43;4.43	4.27	2.2	0.27929	.	0.367202	0.24176	N	0.040853	T	0.01627	0.0052	N	0.19112	0.55	.	.	.	B;B;B	0.26672	0.148;0.148;0.156	B;B;B	0.24848	0.056;0.056;0.023	T	0.40327	-0.9569	9	0.23891	T	0.37	-7.786	7.4545	0.27258	0.8138:0.0:0.1862:0.0	.	168;292;227	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	K	292;292;262	ENSP00000326581:M292K;ENSP00000403051:M292K	ENSP00000292074:M262K	M	-	2	0	ZIM2	62020747	0.035000	0.19736	0.558000	0.28319	0.997000	0.91878	0.350000	0.20079	0.425000	0.26087	0.459000	0.35465	ATG		PASS	0.458	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			20	189	20	189	---	---	---	---
ZNF671	79891	broad.mit.edu	37	19	58238825	58238825	+	Missense_Mutation	SNP	T	T	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr19:58238825T>G	ENST00000317398.6	-	1	167	c.72A>C	c.(70-72)agA>agC	p.R24S	ZNF671_ENST00000594803.1_5'UTR|AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_5'UTR|AC003006.7_ENST00000594684.1_Intron|ZNF671_ENST00000596939.1_Missense_Mutation_p.R24S	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	24					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R24S(1)		kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GCGGCAGGCGTCTCGATCGGG	0.692																																						uc002qpz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(70-72)AGA>AGC		zinc finger protein 671							28.0	31.0	30.0					19																	58238825		2203	4300	6503	SO:0001583	missense	79891				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58238825T>G		CCDS12961.1	19q13.43	2013-01-08				ENSG00000083814		"""Zinc fingers, C2H2-type"", ""-"""	26279	protein-coding gene	gene with protein product	"""hypothetical protein FLJ23506"""					12477932	Standard	NM_024833		Approved	FLJ23506	uc002qpz.4	Q8TAW3		ENST00000317398.6:c.72A>C	19.37:g.58238825T>G	ENSP00000321848:p.Arg24Ser					ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_5'UTR|ZNF671_uc010yhf.1_5'UTR	p.R24S	NM_024833	NP_079109	Q8TAW3	ZN671_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	1	171	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	24					A6NF07|Q9H5E9	Missense_Mutation	SNP	ENST00000317398.6	37	c.72A>C	CCDS12961.1	.	.	.	.	.	.	.	.	.	.	T	10.86	1.470192	0.26423	.	.	ENSG00000083814	ENST00000317398	T	0.04862	3.54	1.45	-2.9	0.05648	.	.	.	.	.	T	0.02193	0.0068	N	0.08118	0	0.23341	N	0.997872	B	0.28026	0.198	B	0.17098	0.017	T	0.44345	-0.9334	9	0.16896	T	0.51	.	2.5304	0.04702	0.5238:0.1791:0.0:0.2971	.	24	Q8TAW3	ZN671_HUMAN	S	24	ENSP00000321848:R24S	ENSP00000321848:R24S	R	-	3	2	ZNF671	62930637	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.577000	0.05847	-1.478000	0.01869	-0.691000	0.03719	AGA		PASS	0.692	ZNF671-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466817.1	NM_024833		4	24	4	24	---	---	---	---
RBCK1	10616	broad.mit.edu	37	20	398440	398440	+	Missense_Mutation	SNP	G	G	A	rs568820415		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr20:398440G>A	ENST00000356286.5	+	4	1031	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	RBCK1_ENST00000382181.2_5'UTR|RBCK1_ENST00000353660.3_Missense_Mutation_p.R67Q	NM_031229.2	NP_112506.2	Q9BYM8	HOIL1_HUMAN	RanBP-type and C3HC4-type zinc finger containing 1	109	Interaction with IRF3.|Interaction with RNF31.|Interaction with TAB2.|Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				negative regulation of necroptotic process (GO:0060546)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein linear polyubiquitination (GO:0097039)|protein polyubiquitination (GO:0000209)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	LUBAC complex (GO:0071797)	ligase activity (GO:0016874)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R67Q(1)|p.R109Q(1)		kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CGGCTGGCACGAGACCAGGAG	0.612																																						uc002wdp.3																			2	Substitution - Missense(2)		lung(2)		0						c.(325-327)CGA>CAA		RanBP-type and C3HC4-type zinc finger containing							48.0	40.0	43.0					20																	398440		2203	4300	6503	SO:0001583	missense	10616				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr20:398440G>A	U67322	CCDS12998.1, CCDS13000.2	20p13	2014-09-17	2006-06-28	2006-06-28	ENSG00000125826	ENSG00000125826		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, RAN-binding domain containing"""	15864	protein-coding gene	gene with protein product	"""heme-oxidized IRP2 ubiquitin ligase 1"""	610924	"""chromosome 20 open reading frame 18"""	C20orf18			Standard	NM_031229		Approved	RBCK2, XAP4, RNF54, ZRANB4, UBCE7IP3, HOIL1	uc002wdp.4	Q9BYM8	OTTHUMG00000031634	ENST00000356286.5:c.326G>A	20.37:g.398440G>A	ENSP00000348632:p.Arg109Gln					RBCK1_uc010zpl.1_Missense_Mutation_p.R109Q|RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.R67Q|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_5'UTR	p.R109Q	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN			4	1019	+		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)	109			Interaction with IRF3.|Ubiquitin-like.|Interaction with RNF31.|Interaction with TAB2.		O95623|Q86SL2|Q96BS3|Q9BYM9	Missense_Mutation	SNP	ENST00000356286.5	37	c.326G>A	CCDS13000.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.98|14.98	2.695860|2.695860	0.48202|0.48202	.|.	.|.	ENSG00000125826|ENSG00000125826	ENST00000414880|ENST00000411647;ENST00000356286;ENST00000441733;ENST00000353660;ENST00000400244;ENST00000400243	.|T;T;T;T	.|0.11277	.|2.79;2.79;2.79;2.79	4.77|4.77	4.77|4.77	0.60923|0.60923	.|Ubiquitin supergroup (1);	.|0.213646	.|0.41712	.|D	.|0.000835	T|T	0.06280|0.06280	0.0162|0.0162	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.26363	.|0.147;0.086;0.015	.|B;B;B	.|0.16289	.|0.015;0.009;0.002	T|T	0.11891|0.11891	-1.0569|-1.0569	5|10	.|0.05721	.|T	.|0.95	-12.9777|-12.9777	11.3612|11.3612	0.49644|0.49644	0.0:0.1834:0.8166:0.0|0.0:0.1834:0.8166:0.0	.|.	.|99;67;109	.|B4E0F5;Q9BYM8-3;Q9BYM8	.|.;.;HOIL1_HUMAN	K|Q	142|109;109;108;67;109;150	.|ENSP00000415080:R109Q;ENSP00000348632:R109Q;ENSP00000387799:R108Q;ENSP00000254960:R67Q	.|ENSP00000254960:R67Q	E|R	+|+	1|2	0|0	RBCK1|RBCK1	346440|346440	0.067000|0.067000	0.21026|0.21026	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	1.319000|1.319000	0.33655|0.33655	2.639000|2.639000	0.89480|0.89480	0.455000|0.455000	0.32223|0.32223	GAG|CGA		PASS	0.612	RBCK1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077461.3	NM_031229		17	71	17	71	---	---	---	---
TBC1D20	128637	broad.mit.edu	37	20	420942	420942	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr20:420942C>G	ENST00000354200.4	-	6	865	c.718G>C	c.(718-720)Gac>Cac	p.D240H	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	240	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.D240H(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				AGGAAGAAGTCATATAACCGC	0.562																																						uc002wds.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(718-720)GAC>CAC		TBC1 domain family, member 20							97.0	78.0	84.0					20																	420942		2203	4300	6503	SO:0001583	missense	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:420942C>G	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.718G>C	20.37:g.420942C>G	ENSP00000346139:p.Asp240His					TBC1D20_uc002wdv.2_Missense_Mutation_p.D63H|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	p.D240H	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN			6	856	-		all_epithelial(17;0.228)|Breast(17;0.231)	240			Rab-GAP TBC.|Helical; (Potential).		A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	c.718G>C	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776059	0.90195	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.51071	0.72	5.65	5.65	0.86999	Rab-GAP/TBC domain (4);	0.043099	0.85682	D	0.000000	T	0.77177	0.4092	M	0.93720	3.45	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.82715	-0.0320	10	0.87932	D	0	-24.965	17.2513	0.87043	0.0:1.0:0.0:0.0	.	240	Q96BZ9	TBC20_HUMAN	H	240;265	ENSP00000346139:D240H	ENSP00000246077:D265H	D	-	1	0	TBC1D20	368942	1.000000	0.71417	0.983000	0.44433	0.981000	0.71138	7.444000	0.80532	2.824000	0.97209	0.655000	0.94253	GAC		PASS	0.562	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2	NM_144628		14	57	14	57	---	---	---	---
CHGB	1114	broad.mit.edu	37	20	5903669	5903669	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr20:5903669C>T	ENST00000378961.4	+	4	1083	c.879C>T	c.(877-879)tcC>tcT	p.S293S		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	293						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)	p.S293S(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCGACAGGTCCTCTCAAGGAG	0.582																																						uc002wmg.2																			1	Substitution - coding silent(1)		lung(1)	breast(3)|skin(2)|ovary(1)	6						c.(877-879)TCC>TCT		chromogranin B precursor							27.0	28.0	28.0					20																	5903669		2203	4300	6503	SO:0001819	synonymous_variant	1114					extracellular region	hormone activity	g.chr20:5903669C>T		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.879C>T	20.37:g.5903669C>T						CHGB_uc010zqz.1_5'UTR	p.S293S	NM_001819	NP_001810	P05060	SCG1_HUMAN			4	1185	+			293					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Silent	SNP	ENST00000378961.4	37	c.879C>T	CCDS13092.1																																																																																				PASS	0.582	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	NM_001819		5	39	5	39	---	---	---	---
MCM8	84515	broad.mit.edu	37	20	5963711	5963711	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr20:5963711G>A	ENST00000378896.3	+	14	2010	c.1633G>A	c.(1633-1635)Ggt>Agt	p.G545S	MCM8_ENST00000378883.1_Missense_Mutation_p.G498S|MCM8_ENST00000378886.2_Missense_Mutation_p.G585S|MCM8_ENST00000265187.4_Missense_Mutation_p.G529S	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	545	MCM.				cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.G529S(1)|p.G545S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TGCTAAGGCTGGTGTGGTTTG	0.403																																						uc002wmi.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1633-1635)GGT>AGT		minichromosome maintenance complex component 8							117.0	109.0	112.0					20																	5963711		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5963711G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.1633G>A	20.37:g.5963711G>A	ENSP00000368174:p.Gly545Ser					MCM8_uc002wmj.2_Missense_Mutation_p.G529S|MCM8_uc002wmk.2_Missense_Mutation_p.G585S|MCM8_uc002wml.2_Missense_Mutation_p.G545S|MCM8_uc010gbp.2_Missense_Mutation_p.G498S|MCM8_uc002wmm.2_Missense_Mutation_p.G83S	p.G545S	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			14	2010	+			545			MCM.		B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.1633G>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	35	5.570047	0.96540	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000378886;ENST00000265187	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	5.58	5.58	0.84498	ATPase, AAA+ type, core (1);	0.049475	0.85682	D	0.000000	T	0.58821	0.2149	H	0.95950	3.745	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.999	T	0.72909	-0.4149	10	0.87932	D	0	-17.1624	19.5642	0.95386	0.0:0.0:1.0:0.0	.	498;585;529;545	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	S	545;498;585;529	ENSP00000368174:G545S;ENSP00000368161:G498S;ENSP00000368164:G585S;ENSP00000265187:G529S	ENSP00000265187:G529S	G	+	1	0	MCM8	5911711	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	9.810000	0.99221	2.628000	0.89032	0.655000	0.94253	GGT		PASS	0.403	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		10	169	10	169	---	---	---	---
CST1	1469	broad.mit.edu	37	20	23728456	23728457	+	Nonsense_Mutation	DNP	GG	GG	TT	rs142792460		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr20:23728456_23728457GG>TT	ENST00000304749.2	-	3	492_493	c.422_423CC>AA	c.(421-423)tCC>tAA	p.S141*	CST1_ENST00000398402.1_Nonsense_Mutation_p.S141*	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	141					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.S141*(1)|p.S141S(1)|p.S141Y(1)		kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					CAGATCCCTAGGATTCTTGACA	0.589																																						uc002wtp.2																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(421-423)TCC>TCA|c.(421-423)TCC>TAC		cystatin SN precursor																																				SO:0001587	stop_gained	1469					extracellular region	cysteine-type endopeptidase inhibitor activity	g.chr20:23728456G>T|g.chr20:23728457G>T	M19169	CCDS13160.1	20p11.2	2008-04-15			ENSG00000170373	ENSG00000170373			2473	protein-coding gene	gene with protein product		123855					Standard	NM_001898		Approved		uc002wtp.3	P01037	OTTHUMG00000032085	ENST00000304749.2:c.422_423delinsTT	20.37:g.23728456_23728457delinsTT	ENSP00000305731:p.Ser141*						p.S141S|p.S141Y	NM_001898	NP_001889	P01037	CYTN_HUMAN			3	494|493	-	Lung NSC(19;0.0676)|all_lung(19;0.148)		141					Q96LE6|Q9UCQ6	Silent|Missense_Mutation	SNP	ENST00000304749.2	37	c.423C>A|c.422C>A	CCDS13160.1																																																																																				PASS	0.589	CST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078351.2	NM_001898		12|13	57|56	12	56	---	---	---	---
GDF5	8200	broad.mit.edu	37	20	34025387	34025387	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr20:34025387G>T	ENST00000374372.1	-	3	825	c.322C>A	c.(322-324)Cca>Aca	p.P108T	GDF5_ENST00000374369.3_Missense_Mutation_p.P108T			P43026	GDF5_HUMAN	growth differentiation factor 5	108					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)	p.P108T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GGGTGTCCTGGCTTGGGTTCA	0.637																																						uc002xck.1																			1	Substitution - Missense(1)		lung(1)		0						c.(322-324)CCA>ACA		growth differentiation factor 5 preproprotein							46.0	51.0	49.0					20																	34025387		2203	4300	6503	SO:0001583	missense	8200				cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr20:34025387G>T	X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.322C>A	20.37:g.34025387G>T	ENSP00000363492:p.Pro108Thr					GDF5_uc010gfc.1_Missense_Mutation_p.P108T|GDF5_uc010zvc.1_Missense_Mutation_p.P108T	p.P108T	NM_000557	NP_000548	P43026	GDF5_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00663)		1	641	-	Lung NSC(9;0.00642)|all_lung(11;0.0094)		108					E1P5Q2|Q96SB1	Missense_Mutation	SNP	ENST00000374372.1	37	c.322C>A	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	G	0.103	-1.149752	0.01714	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	T;T	0.28895	1.59;1.59	4.39	4.39	0.52855	.	1.756510	0.05806	U	0.613206	T	0.17916	0.0430	N	0.14661	0.345	0.25918	N	0.983144	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.21759	-1.0236	10	0.08381	T	0.77	.	7.8483	0.29440	0.0:0.2308:0.617:0.1521	.	108;108	F1T0J1;P43026	.;GDF5_HUMAN	T	108	ENSP00000363489:P108T;ENSP00000363492:P108T	ENSP00000363489:P108T	P	-	1	0	GDF5	33488801	0.998000	0.40836	1.000000	0.80357	0.408000	0.30992	1.313000	0.33585	2.256000	0.74724	0.313000	0.20887	CCA		PASS	0.637	GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2			14	114	14	114	---	---	---	---
SPINT4	391253	broad.mit.edu	37	20	44352615	44352615	+	Missense_Mutation	SNP	T	T	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr20:44352615T>A	ENST00000279058.3	+	2	229	c.212T>A	c.(211-213)tTc>tAc	p.F71Y		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	71	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.					extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.F71Y(1)		lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				ACTTTTGTCTTCTCCGGCTGT	0.388																																						uc002xpe.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(211-213)TTC>TAC		serine peptidase inhibitor, Kunitz type 4							94.0	96.0	95.0					20																	44352615		2203	4300	6503	SO:0001583	missense	391253					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44352615T>A	AY372174	CCDS33477.1	20q13.12	2012-08-20	2005-10-18	2005-10-25	ENSG00000149651	ENSG00000149651			16130	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 137"", ""serine peptidase inhibitor, Kunitz type 4"""	C20orf137		21988899	Standard	NM_178455		Approved	dJ601O1.1	uc002xpe.1	Q6UDR6	OTTHUMG00000130153	ENST00000279058.3:c.212T>A	20.37:g.44352615T>A	ENSP00000279058:p.Phe71Tyr						p.F71Y	NM_178455	NP_848550	Q6UDR6	SPIT4_HUMAN			2	231	+		Myeloproliferative disorder(115;0.028)	71			BPTI/Kunitz inhibitor.		Q9BQN3	Missense_Mutation	SNP	ENST00000279058.3	37	c.212T>A	CCDS33477.1	.	.	.	.	.	.	.	.	.	.	T	0.319	-0.963122	0.02249	.	.	ENSG00000149651	ENST00000279058	T	0.45668	0.89	4.47	-8.94	0.00768	Proteinase inhibitor I2, Kunitz metazoa (6);	1.077780	0.07164	N	0.851179	T	0.17619	0.0423	.	.	.	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.46857	-0.9161	9	0.02654	T	1	-13.9897	15.4507	0.75271	0.1524:0.0:0.0:0.8476	.	71	Q6UDR6	SPIT4_HUMAN	Y	71	ENSP00000279058:F71Y	ENSP00000279058:F71Y	F	+	2	0	SPINT4	43786029	0.022000	0.18835	0.000000	0.03702	0.000000	0.00434	-0.298000	0.08265	-2.161000	0.00785	-1.412000	0.01120	TTC		PASS	0.388	SPINT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252463.2	XM_372869		62	212	62	212	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51872316	51872316	+	Silent	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr20:51872316G>A	ENST00000371497.5	+	2	3206	c.2319G>A	c.(2317-2319)aaG>aaA	p.K773K	TSHZ2_ENST00000329613.6_Silent_p.K770K|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000603338.2_Silent_p.K770K	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	773					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K773K(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCAAAAGCAAGAAAGCCGAGT	0.557																																						uc002xwo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2317-2319)AAG>AAA		teashirt zinc finger homeobox 2							106.0	102.0	103.0					20																	51872316		2203	4300	6503	SO:0001819	synonymous_variant	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872316G>A	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2319G>A	20.37:g.51872316G>A							p.K773K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3275	+			773					B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Silent	SNP	ENST00000371497.5	37	c.2319G>A	CCDS33490.1																																																																																				PASS	0.557	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		89	209	89	209	---	---	---	---
GNAS	2778	broad.mit.edu	37	20	57484842	57484842	+	Missense_Mutation	SNP	G	G	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr20:57484842G>C	ENST00000371085.3	+	10	1246	c.822G>C	c.(820-822)aaG>aaC	p.K274N	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000354359.7_Missense_Mutation_p.K275N|GNAS_ENST00000306090.10_Missense_Mutation_p.K260N|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.K259N|GNAS_ENST00000371102.4_Missense_Mutation_p.K903N|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371100.4_Missense_Mutation_p.K917N|GNAS_ENST00000371095.3_Missense_Mutation_p.K260N	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	274					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)	p.K274N(1)|p.K917N(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			ACCTCTTCAAGAGCATCTGGA	0.582			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		2	Substitution - Missense(2)		lung(2)	pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(2749-2751)AAG>AAC		GNAS complex locus XLas							88.0	90.0	89.0					20																	57484842		2203	4300	6503	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57484842G>C	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.822G>C	20.37:g.57484842G>C	ENSP00000360126:p.Lys274Asn	TSP Lung(22;0.16)				GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.K215N|GNAS_uc002xzx.2_Missense_Mutation_p.K215N|GNAS_uc010gjr.2_Missense_Mutation_p.K165N|GNAS_uc002xzy.2_Missense_Mutation_p.K200N|GNAS_uc002yaa.2_Missense_Mutation_p.K260N|GNAS_uc010zzt.1_Missense_Mutation_p.K275N|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.K165N|GNAS_uc002yae.2_Missense_Mutation_p.K199N	p.K917N	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		10	3036	+	all_lung(29;0.0104)		274					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2751G>C	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623730	0.87460	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090;ENST00000371082	D;D;D;D;D;D;D	0.90069	-2.61;-2.61;-2.61;-2.61;-2.61;-2.61;-2.61	5.38	4.41	0.53225	.	0.088965	0.85682	D	0.000000	D	0.92987	0.7768	M	0.64170	1.965	0.80722	D	1	P;P;P;D	0.65815	0.585;0.832;0.69;0.995	P;P;P;D	0.73380	0.533;0.653;0.521;0.98	D	0.92840	0.6288	10	0.46703	T	0.11	.	15.5917	0.76534	0.0:0.0:0.8611:0.1389	.	274;275;259;917	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	N	917;903;260;274;275;259;260;40	ENSP00000360141:K917N;ENSP00000360143:K903N;ENSP00000360136:K260N;ENSP00000360126:K274N;ENSP00000346328:K275N;ENSP00000265620:K259N;ENSP00000304472:K260N	ENSP00000265620:K259N	K	+	3	2	GNAS	56918237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.688000	0.54699	1.370000	0.46153	0.650000	0.86243	AAG		PASS	0.582	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2	NM_000516		27	178	27	178	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58348476	58348476	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr20:58348476C>G	ENST00000371015.1	+	6	1361	c.894C>G	c.(892-894)caC>caG	p.H298Q	PHACTR3_ENST00000395639.4_Missense_Mutation_p.H187Q|PHACTR3_ENST00000361300.4_Missense_Mutation_p.H187Q|PHACTR3_ENST00000359926.3_Missense_Mutation_p.H295Q|PHACTR3_ENST00000355648.4_Missense_Mutation_p.H257Q|PHACTR3_ENST00000395636.2_Missense_Mutation_p.H257Q|PHACTR3_ENST00000541461.1_Missense_Mutation_p.H257Q	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	298						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.H298Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AGGAGCTGCACAGGGCGCTGG	0.687																																						uc002yau.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(892-894)CAC>CAG		phosphatase and actin regulator 3 isoform 1							40.0	35.0	37.0					20																	58348476		2203	4299	6502	SO:0001583	missense	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58348476C>G	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.894C>G	20.37:g.58348476C>G	ENSP00000360054:p.His298Gln					PHACTR3_uc002yat.2_Missense_Mutation_p.H295Q|PHACTR3_uc010zzw.1_Missense_Mutation_p.H257Q|PHACTR3_uc002yav.2_Missense_Mutation_p.H257Q|PHACTR3_uc002yaw.2_Missense_Mutation_p.H257Q|PHACTR3_uc002yax.2_Missense_Mutation_p.H187Q	p.H298Q	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		6	1361	+	all_lung(29;0.00344)		298					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	ENST00000371015.1	37	c.894C>G	CCDS13480.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.523988	0.44866	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.28666	1.96;2.0;1.6;1.98;1.98;1.98;1.6	4.61	2.63	0.31362	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	L	0.52364	1.645	0.52099	D	0.999943	P;B;B	0.39352	0.669;0.402;0.402	B;B;B	0.30943	0.122;0.119;0.119	T	0.03795	-1.1003	10	0.23891	T	0.37	-24.1792	10.3922	0.44179	0.0:0.838:0.0:0.162	.	187;298;295	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	Q	295;298;187;257;257;257;187	ENSP00000353002:H295Q;ENSP00000360054:H298Q;ENSP00000379001:H187Q;ENSP00000442483:H257Q;ENSP00000347866:H257Q;ENSP00000378998:H257Q;ENSP00000354555:H187Q	ENSP00000347866:H257Q	H	+	3	2	PHACTR3	57781871	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	1.786000	0.38694	0.539000	0.28788	0.655000	0.94253	CAC		PASS	0.687	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		3	7	3	7	---	---	---	---
LAMA5	3911	broad.mit.edu	37	20	60902416	60902416	+	Missense_Mutation	SNP	A	A	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr20:60902416A>C	ENST00000252999.3	-	38	5051	c.4985T>G	c.(4984-4986)gTg>gGg	p.V1662G		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1662	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)	p.V1662G(1)		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)			GTGGGGCACCACCTGCCGGTC	0.662																																						uc002ycq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(4984-4986)GTG>GGG		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						34.0	31.0	32.0					20																	60902416		2197	4296	6493	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.chr20:60902416A>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.4985T>G	20.37:g.60902416A>C	ENSP00000252999:p.Val1662Gly						p.V1662G	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		38	5052	-	Breast(26;1.57e-08)		1662			Laminin IV type A.		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.4985T>G	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	A	9.852	1.193971	0.22037	.	.	ENSG00000130702	ENST00000252999	T	0.19532	2.14	4.71	2.18	0.27775	Laminin B type IV (1);	0.057843	0.64402	U	0.000003	T	0.15522	0.0374	L	0.47716	1.5	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.06935	-1.0799	10	0.39692	T	0.17	.	5.1332	0.14921	0.3139:0.1399:0.0:0.5462	.	1662	O15230	LAMA5_HUMAN	G	1662	ENSP00000252999:V1662G	ENSP00000252999:V1662G	V	-	2	0	LAMA5	60335811	0.001000	0.12720	0.999000	0.59377	0.543000	0.35085	0.060000	0.14342	0.609000	0.30018	0.372000	0.22366	GTG		PASS	0.662	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		3	28	3	28	---	---	---	---
SCAF4	57466	broad.mit.edu	37	21	33074583	33074583	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr21:33074583A>T	ENST00000286835.7	-	5	813	c.431T>A	c.(430-432)gTa>gAa	p.V144E	SCAF4_ENST00000399804.1_Missense_Mutation_p.V144E|SCAF4_ENST00000434667.3_Missense_Mutation_p.V129E	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	144						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.V144E(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ATTTTCTGCTACTGGGGCTGC	0.398																																						uc002ypd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)GTA>GAA		splicing factor, arginine/serine-rich 15 isoform							169.0	143.0	152.0					21																	33074583		2203	4300	6503	SO:0001583	missense	57466					nucleus	nucleotide binding|RNA binding	g.chr21:33074583A>T	AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.431T>A	21.37:g.33074583A>T	ENSP00000286835:p.Val144Glu					SFRS15_uc002ype.2_Missense_Mutation_p.V144E|SFRS15_uc010glu.2_Missense_Mutation_p.V129E|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.V144E	p.V144E	NM_020706	NP_065757	O95104	SFR15_HUMAN			5	857	-			144					C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	c.431T>A	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	A	11.98	1.801380	0.31869	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.48522	0.81;0.89;0.89	5.51	3.04	0.35103	.	0.567462	0.18376	N	0.143107	T	0.36744	0.0978	L	0.50333	1.59	0.33537	D	0.594358	B;B;B;B	0.10296	0.001;0.003;0.002;0.001	B;B;B;B	0.06405	0.001;0.002;0.002;0.001	T	0.43589	-0.9382	10	0.02654	T	1	-0.6177	12.545	0.56195	0.7379:0.2621:0.0:0.0	.	129;144;144;144	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	E	129;144;144	ENSP00000402377:V129E;ENSP00000286835:V144E;ENSP00000382703:V144E	ENSP00000286835:V144E	V	-	2	0	SCAF4	31996454	0.824000	0.29247	0.999000	0.59377	0.936000	0.57629	2.666000	0.46799	0.333000	0.23563	0.397000	0.26171	GTA		PASS	0.398	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1	XM_047889		50	112	50	112	---	---	---	---
PI4KA	5297	broad.mit.edu	37	22	21096998	21096998	+	Missense_Mutation	SNP	T	T	C			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr22:21096998T>C	ENST00000572273.1	-	31	3567	c.3337A>G	c.(3337-3339)Aaa>Gaa	p.K1113E	PI4KA_ENST00000255882.6_Missense_Mutation_p.K1171E			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1113					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)	p.K1113E(2)		breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACCATCATTTTGTTCAGGTCA	0.463																																					GBM(136;1332 1831 3115 23601 50806)	uc002zsz.3																			2	Substitution - Missense(2)		lung(2)	lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1)	4						c.(3337-3339)AAA>GAA		phosphatidylinositol 4-kinase type 3 alpha							252.0	187.0	209.0					22																	21096998		2203	4300	6503	SO:0001583	missense	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21096998T>C	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3337A>G	22.37:g.21096998T>C	ENSP00000458238:p.Lys1113Glu						p.K1113E	NM_058004	NP_477352	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		31	3568	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1113					Q7Z625|Q9UPG2	Missense_Mutation	SNP	ENST00000572273.1	37	c.3337A>G		.	.	.	.	.	.	.	.	.	.	T	10.15	1.272346	0.23221	.	.	ENSG00000241973	ENST00000255882	.	.	.	5.87	4.84	0.62591	.	0.219694	0.47455	D	0.000225	T	0.38639	0.1048	N	0.25144	0.715	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.23904	-1.0175	9	0.05351	T	0.99	-13.6332	12.8989	0.58115	0.0:0.0:0.151:0.849	.	1113	P42356	PI4KA_HUMAN	E	1113	.	ENSP00000255882:K1113E	K	-	1	0	PI4KA	19426998	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.485000	0.45250	1.075000	0.40932	0.528000	0.53228	AAA		PASS	0.463	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		192	284	192	284	---	---	---	---
HIC2	23119	broad.mit.edu	37	22	21800555	21800555	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr22:21800555C>T	ENST00000443632.2	+	2	1743	c.1371C>T	c.(1369-1371)ctC>ctT	p.L457L	HIC2_ENST00000407464.2_Silent_p.L457L|HIC2_ENST00000407598.2_Silent_p.L457L			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	457					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.L457L(1)		NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				CTGAGCAGCTCAATGCGCACG	0.612																																					NSCLC(23;437 858 2282 27947 40366)	uc002zur.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1369-1371)CTC>CTT		hypermethylated in cancer 2							78.0	70.0	72.0					22																	21800555		2203	4300	6503	SO:0001819	synonymous_variant	23119				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding	g.chr22:21800555C>T	AB028943	CCDS13789.1	22q11.21	2013-01-09			ENSG00000169635	ENSG00000169635		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18595	protein-coding gene	gene with protein product		607712				11554746	Standard	NM_015094		Approved	KIAA1020, HRG22, ZBTB30, ZNF907	uc002zur.4	Q96JB3	OTTHUMG00000150781	ENST00000443632.2:c.1371C>T	22.37:g.21800555C>T						HIC2_uc002zus.3_Silent_p.L457L	p.L457L	NM_015094	NP_055909	Q96JB3	HIC2_HUMAN			3	1601	+	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)	457			C2H2-type 1.		Q504T6|Q96KR3|Q9NSM9|Q9UPX9	Silent	SNP	ENST00000443632.2	37	c.1371C>T	CCDS13789.1																																																																																				PASS	0.612	HIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320061.2			8	356	8	356	---	---	---	---
ZNRF3	84133	broad.mit.edu	37	22	29442802	29442802	+	Silent	SNP	C	C	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr22:29442802C>T	ENST00000544604.2	+	6	1018	c.843C>T	c.(841-843)gcC>gcT	p.A281A	ZNRF3_ENST00000406323.3_Silent_p.A181A|ZNRF3_ENST00000402174.1_Silent_p.A181A|ZNRF3_ENST00000332811.4_Silent_p.A181A	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	281					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A181A(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCTGTGGGGCCCTGGACACAC	0.577																																						uc003aeg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(541-543)GCC>GCT		zinc and ring finger 3							103.0	118.0	113.0					22																	29442802		2005	4167	6172	SO:0001819	synonymous_variant	84133					integral to membrane	zinc ion binding	g.chr22:29442802C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.843C>T	22.37:g.29442802C>T						ZNRF3_uc003aeh.1_Silent_p.A181A	p.A181A	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN			6	708	+			281			Cytoplasmic (Potential).		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Silent	SNP	ENST00000544604.2	37	c.543C>T	CCDS56225.1																																																																																				PASS	0.577	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		306	427	306	427	---	---	---	---
MCM5	4174	broad.mit.edu	37	22	35802676	35802676	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr22:35802676G>A	ENST00000216122.4	+	5	708	c.554G>A	c.(553-555)cGc>cAc	p.R185H	MCM5_ENST00000382011.5_Missense_Mutation_p.R142H	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	185					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)	p.R185H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATTGCCATGCGCCCTGGCCTC	0.622																																						uc003anu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(553-555)CGC>CAC		minichromosome maintenance complex component 5							75.0	55.0	62.0					22																	35802676		2203	4300	6503	SO:0001583	missense	4174				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr22:35802676G>A		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.554G>A	22.37:g.35802676G>A	ENSP00000216122:p.Arg185His					MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Missense_Mutation_p.R142H|MCM5_uc010gws.1_5'Flank	p.R185H	NM_006739	NP_006730	P33992	MCM5_HUMAN			5	648	+			185					O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	37	c.554G>A	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146672	0.77888	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000444582;ENST00000416905;ENST00000444778	T;T;T;T	0.04917	3.53;3.53;3.53;3.53	3.94	3.94	0.45596	Nucleic acid-binding, OB-fold-like (1);	0.061246	0.64402	D	0.000002	T	0.12561	0.0305	L	0.60455	1.87	0.52099	D	0.999943	P;P	0.50819	0.939;0.939	B;P	0.47044	0.34;0.535	T	0.03840	-1.0999	10	0.59425	D	0.04	-21.9695	16.5319	0.84362	0.0:0.0:1.0:0.0	.	142;185	B1AHB1;P33992	.;MCM5_HUMAN	H	185;142;94;217;42	ENSP00000216122:R185H;ENSP00000371441:R142H;ENSP00000393977:R217H;ENSP00000408705:R42H	ENSP00000216122:R185H	R	+	2	0	MCM5	34132676	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.182000	0.50910	2.191000	0.70037	0.561000	0.74099	CGC		PASS	0.622	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3			9	102	9	102	---	---	---	---
GTPBP1	9567	broad.mit.edu	37	22	39122021	39122021	+	Missense_Mutation	SNP	A	A	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr22:39122021A>T	ENST00000216044.5	+	7	1317	c.1084A>T	c.(1084-1086)Ata>Tta	p.I362L	GTPBP1_ENST00000460605.1_3'UTR	NM_004286.4	NP_004277.2	O00178	GTPB1_HUMAN	GTP binding protein 1	362	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				GTP catabolic process (GO:0006184)|immune response (GO:0006955)|positive regulation of mRNA catabolic process (GO:0061014)|signal transduction (GO:0007165)	cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.I362L(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	18	Melanoma(58;0.04)					GATGTGCCCGATATTCCAGAT	0.572																																						uc003awg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1084-1086)ATA>TTA		GTP binding protein 1							141.0	142.0	142.0					22																	39122021		2203	4300	6503	SO:0001583	missense	9567				immune response|positive regulation of mRNA catabolic process|signal transduction	cytoplasmic exosome (RNase complex)|cytosol	GTP binding|GTPase activity	g.chr22:39122021A>T	U87964	CCDS13977.2	22q13.1	2008-07-01			ENSG00000100226	ENSG00000100226			4669	protein-coding gene	gene with protein product		602245				9070279	Standard	XM_005261857		Approved	GP-1, HSPC018	uc003awg.3	O00178	OTTHUMG00000151002	ENST00000216044.5:c.1084A>T	22.37:g.39122021A>T	ENSP00000216044:p.Ile362Leu						p.I362L	NM_004286	NP_004277	O00178	GTPB1_HUMAN			7	1238	+	Melanoma(58;0.04)		362					Q6IC67	Missense_Mutation	SNP	ENST00000216044.5	37	c.1084A>T	CCDS13977.2	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584414	0.86748	.	.	ENSG00000100226	ENST00000216044	T	0.71222	-0.55	5.42	5.42	0.78866	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.79678	0.4487	M	0.82323	2.585	0.80722	D	1	P	0.42735	0.788	P	0.48270	0.572	T	0.82784	-0.0286	10	0.62326	D	0.03	.	15.4614	0.75359	1.0:0.0:0.0:0.0	.	362	O00178	GTPB1_HUMAN	L	362	ENSP00000216044:I362L	ENSP00000216044:I362L	I	+	1	0	GTPBP1	37451967	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	9.303000	0.96183	2.065000	0.61736	0.533000	0.62120	ATA		PASS	0.572	GTPBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075532.1	NM_004286		67	705	67	705	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67942420	67942420	+	Missense_Mutation	SNP	G	G	T			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chrX:67942420G>T	ENST00000252336.6	+	11	2863	c.2491G>T	c.(2491-2493)Gct>Tct	p.A831S	STARD8_ENST00000374597.3_Missense_Mutation_p.A831S|STARD8_ENST00000374599.3_Missense_Mutation_p.A911S	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	831	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.A831S(2)|p.A911S(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCTGCGTGATGCTGCTGAGCG	0.647																																						uc004dxa.2																			3	Substitution - Missense(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(2491-2493)GCT>TCT		StAR-related lipid transfer (START) domain							61.0	51.0	55.0					X																	67942420		2203	4300	6503	SO:0001583	missense	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67942420G>T	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.2491G>T	X.37:g.67942420G>T	ENSP00000252336:p.Ala831Ser					STARD8_uc004dxb.2_Missense_Mutation_p.A911S|STARD8_uc004dxc.3_Missense_Mutation_p.A831S	p.A831S	NM_014725	NP_055540	Q92502	STAR8_HUMAN			11	2863	+			831			START.		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Missense_Mutation	SNP	ENST00000252336.6	37	c.2491G>T	CCDS14390.1	.	.	.	.	.	.	.	.	.	.	g	17.98	3.521671	0.64747	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	D;D;D	0.81908	-1.55;-1.55;-1.55	4.36	4.36	0.52297	Lipid-binding START (3);START-like domain (1);	0.159635	0.41712	D	0.000822	T	0.76550	0.4003	N	0.26042	0.785	0.40017	D	0.975364	B;B	0.17465	0.0;0.022	B;B	0.38194	0.05;0.267	T	0.71520	-0.4568	10	0.32370	T	0.25	.	8.6912	0.34267	0.0:0.0:0.7736:0.2264	.	911;831	Q92502-2;Q92502	.;STAR8_HUMAN	S	831;911;831	ENSP00000252336:A831S;ENSP00000363727:A911S;ENSP00000363725:A831S	ENSP00000252336:A831S	A	+	1	0	STARD8	67859145	1.000000	0.71417	0.949000	0.38748	0.912000	0.54170	4.957000	0.63652	2.001000	0.58596	0.509000	0.49947	GCT		PASS	0.647	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		28	43	28	43	---	---	---	---
DCAF12L2	340578	broad.mit.edu	37	X	125299017	125299017	+	Missense_Mutation	SNP	C	C	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chrX:125299017C>A	ENST00000360028.2	-	1	917	c.891G>T	c.(889-891)agG>agT	p.R297S	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.R297S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	297								p.R297S(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGACAGGAGCCTGGATAGTG	0.607																																						uc004euk.1																			2	Substitution - Missense(2)		lung(2)	lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(889-891)AGG>AGT		DDB1 and CUL4 associated factor 12-like 2							91.0	95.0	94.0					X																	125299017		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125299017C>A	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.891G>T	X.37:g.125299017C>A	ENSP00000353128:p.Arg297Ser						p.R297S	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	918	-			297			WD 3.		B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.891G>T	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631677	0.29068	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.62941	-0.01;-0.01	3.95	3.95	0.45737	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.40302	N	0.001129	T	0.50137	0.1598	L	0.53249	1.67	0.38541	D	0.949218	P	0.43094	0.799	B	0.33339	0.162	T	0.58847	-0.7564	10	0.42905	T	0.14	.	10.422	0.44356	0.0:1.0:0.0:0.0	.	297	Q5VW00	DC122_HUMAN	S	297	ENSP00000441489:R297S;ENSP00000353128:R297S	ENSP00000353128:R297S	R	-	3	2	DCAF12L2	125126698	1.000000	0.71417	0.997000	0.53966	0.229000	0.25112	4.149000	0.58091	2.218000	0.71995	0.544000	0.68410	AGG		PASS	0.607	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		69	113	69	113	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125686398	125686398	+	Missense_Mutation	SNP	G	G	A			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chrX:125686398G>A	ENST00000371126.1	-	1	436	c.194C>T	c.(193-195)cCc>cTc	p.P65L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	65								p.P65L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GAGCCTGGCGGGGCCCCACCC	0.692																																						uc004eul.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(193-195)CCC>CTC		DDB1 and CUL4 associated factor 12-like 1							33.0	39.0	37.0					X																	125686398		2198	4289	6487	SO:0001583	missense	139170							g.chrX:125686398G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.194C>T	X.37:g.125686398G>A	ENSP00000360167:p.Pro65Leu						p.P65L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	445	-			65					Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.194C>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	G	4.794	0.147581	0.09134	.	.	ENSG00000198889	ENST00000371126	T	0.17370	2.28	3.6	-7.19	0.01500	.	.	.	.	.	T	0.07324	0.0185	L	0.29908	0.895	0.09310	N	1	B	0.18610	0.029	B	0.16722	0.016	T	0.38908	-0.9639	9	0.10636	T	0.68	.	1.5278	0.02529	0.1973:0.1159:0.2189:0.468	.	65	Q5VU92	DC121_HUMAN	L	65	ENSP00000360167:P65L	ENSP00000360167:P65L	P	-	2	0	DCAF12L1	125514079	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.270000	0.08584	-2.550000	0.00480	-0.371000	0.07208	CCC		PASS	0.692	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		29	27	29	27	---	---	---	---
ATP11C	286410	broad.mit.edu	37	X	138878475	138878475	+	Missense_Mutation	SNP	C	C	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chrX:138878475C>G	ENST00000327569.3	-	12	1270	c.1172G>C	c.(1171-1173)gGa>gCa	p.G391A	ATP11C_ENST00000370543.1_Missense_Mutation_p.G391A|ATP11C_ENST00000359686.2_Missense_Mutation_p.G391A|ATP11C_ENST00000361648.2_Missense_Mutation_p.G391A|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370557.1_Missense_Mutation_p.G388A	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	391					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.G391A(2)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AACCAGGGCTCCTTCATTAAT	0.358																																						uc004faz.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(3)	8						c.(1171-1173)GGA>GCA		ATPase, class VI, type 11C isoform a							56.0	49.0	51.0					X																	138878475		2203	4300	6503	SO:0001583	missense	286410				ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chrX:138878475C>G	AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.1172G>C	X.37:g.138878475C>G	ENSP00000332756:p.Gly391Ala					ATP11C_uc004fay.2_RNA|ATP11C_uc004fba.2_Missense_Mutation_p.G391A	p.G391A	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN			12	1271	-	Acute lymphoblastic leukemia(192;0.000127)		391			Cytoplasmic (Potential).		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Missense_Mutation	SNP	ENST00000327569.3	37	c.1172G>C	CCDS14668.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883305	0.72410	.	.	ENSG00000101974	ENST00000370557;ENST00000361648;ENST00000327569;ENST00000370543;ENST00000359686	D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.91352	0.7272	L	0.33137	0.985	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.72338	0.977;0.948	D	0.90702	0.4621	10	0.38643	T	0.18	.	17.9971	0.89187	0.0:1.0:0.0:0.0	.	391;391	Q8NB49-3;Q8NB49	.;AT11C_HUMAN	A	388;391;391;391;391	ENSP00000359588:G388A;ENSP00000355165:G391A;ENSP00000332756:G391A;ENSP00000359574:G391A;ENSP00000352715:G391A	ENSP00000332756:G391A	G	-	2	0	ATP11C	138706141	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.818000	0.86416	2.471000	0.83476	0.600000	0.82982	GGA		PASS	0.358	ATP11C-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354945.1	NM_173694		16	10	16	10	---	---	---	---
MAGEA12	4111	broad.mit.edu	37	X	151900357	151900357	+	Silent	SNP	A	A	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chrX:151900357A>G	ENST00000357916.4	-	2	599	c.444T>C	c.(442-444)ccT>ccC	p.P148P	CSAG1_ENST00000370287.3_5'Flank|CSAG1_ENST00000370291.2_5'Flank|MAGEA12_ENST00000393900.3_Silent_p.P148P|MAGEA12_ENST00000393869.3_Silent_p.P148P|CSAG1_ENST00000452779.2_5'Flank|CSAG4_ENST00000361201.4_RNA	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	148	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P148P(2)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGATCACAGGAAAGAAGT	0.512																																						uc010ntp.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(442-444)CCT>CCC		melanoma antigen family A, 12							148.0	141.0	144.0					X																	151900357		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151900357A>G		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.444T>C	X.37:g.151900357A>G						MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Silent_p.P148P|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	p.P148P	NM_005367	NP_005358	P43365	MAGAC_HUMAN			3	798	-	Acute lymphoblastic leukemia(192;6.56e-05)		148			MAGE.		Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.444T>C	CCDS14710.1																																																																																				PASS	0.512	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		5	289	5	289	---	---	---	---
FLNA	2316	broad.mit.edu	37	X	153592742	153592742	+	Splice_Site	SNP	T	T	G			TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chrX:153592742T>G	ENST00000369850.3	-	14	2259		c.e14-2		FLNA_ENST00000344736.4_Splice_Site|FLNA_ENST00000422373.1_Splice_Site|FLNA_ENST00000360319.4_Splice_Site	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha						actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)	p.?(1)		breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCCTTCACCTAGCGGGAGAC	0.637																																						uc004fkk.2																			1	Unknown(1)		lung(1)	breast(6)	6						c.e14-1		filamin A, alpha isoform 2							55.0	55.0	55.0					X																	153592742		2103	4214	6317	SO:0001630	splice_region_variant	2316				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding	g.chrX:153592742T>G	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2023-2A>C	X.37:g.153592742T>G						FLNA_uc010nuu.1_Splice_Site_p.V675_splice	p.V675_splice	NM_001110556	NP_001104026	P21333	FLNA_HUMAN			14	2272	-	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)							E9KL45|Q5HY53|Q5HY55|Q8NF52	Splice_Site	SNP	ENST00000369850.3	37	c.2023_splice	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.079360	0.36662	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	.	.	.	4.89	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.746	0.62876	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLNA	153245936	1.000000	0.71417	0.848000	0.33437	0.286000	0.27126	8.024000	0.88770	1.619000	0.50296	0.390000	0.25778	.		PASS	0.637	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		Intron	66	38	66	38	---	---	---	---
MAFA	389692	broad.mit.edu	37	8	144511954	144511959	+	In_Frame_Del	DEL	TGGTGG	TGGTGG	-	rs552049497|rs141816879		TCGA-66-2777-01A-01D-1267-08	TCGA-66-2777-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	2ea52fb8-d7c9-48ce-9aef-50df7c42e5d5	210f08ab-aef8-4b9e-8866-bb7644e7e8f3	g.chr8:144511954_144511959delTGGTGG	ENST00000333480.2	-	1	617_622	c.618_623delCCACCA	c.(616-624)caccaccat>cat	p.206_208HHH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	206	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggtggt	0.748										HNSCC(29;0.082)																												uc003yyc.1																			3	Deletion - In frame(3)		upper_aerodigestive_tract(2)|breast(1)		0						c.(616-624)CACCACCAT>CAT		v-maf musculoaponeurotic fibrosarcoma oncogene																																				SO:0001651	inframe_deletion	389692				insulin secretion|nitric oxide mediated signal transduction|response to glucose stimulus	nucleus	protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:144511954_144511959delTGGTGG	AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.618_623delCCACCA	8.37:g.144511960_144511965delTGGTGG	ENSP00000328364:p.His206_His207del	HNSCC(29;0.082)					p.206_208HHH>H	NM_201589	NP_963883	Q8NHW3	MAFA_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)		1	618_623	-	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		206_208			His-rich.			In_Frame_Del	DEL	ENST00000333480.2	37	c.618_623delCCACCA	CCDS34955.1																																																																																					0.748	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2	NM_201589		4	2	4	2	---	---	---	---
