#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
PRAMEF6	440561	broad.mit.edu	37	1	13001287	13001287	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:13001287T>A	ENST00000376189.1	-	3	495	c.396A>T	c.(394-396)aaA>aaT	p.K132N	PRAMEF6_ENST00000415464.2_Missense_Mutation_p.K132N|PRAMEF6_ENST00000376192.5_Intron	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	132					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.K132N(1)		NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	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)		GCACTGGTGTTTTGTTCCTCT	0.493																																						uc001auq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(394-396)AAA>AAT		PRAME family member 6							406.0	677.0	580.0					1																	13001287		1510	2708	4218	SO:0001583	missense	440561							g.chr1:13001287T>A		CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376189.1:c.396A>T	1.37:g.13001287T>A	ENSP00000365360:p.Lys132Asn					PRAMEF5_uc001aur.2_Intron	p.K132N	NM_001010889	NP_001010889	Q5VXH4	PRAM6_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)	3	482	-	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)	132					A0AUJ9	Missense_Mutation	SNP	ENST00000376189.1	37	c.396A>T	CCDS30594.1	.	.	.	.	.	.	.	.	.	.	.	1.644	-0.515642	0.04200	.	.	ENSG00000232423	ENST00000376189;ENST00000415464;ENST00000355096	T;T;T	0.15256	2.44;2.44;2.44	1.37	-2.73	0.05950	.	3.003100	0.01201	N	0.007597	T	0.12987	0.0315	L	0.45422	1.42	0.09310	N	1	B	0.25609	0.13	B	0.24155	0.051	T	0.12344	-1.0551	10	0.27082	T	0.32	.	0.3949	0.00417	0.1893:0.3023:0.1891:0.3193	.	132	Q5VXH4	PRAM6_HUMAN	N	132	ENSP00000365360:K132N;ENSP00000401281:K132N;ENSP00000347211:K132N	ENSP00000347211:K132N	K	-	3	2	PRAMEF6	12923874	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.263000	0.08670	-2.276000	0.00678	-0.579000	0.04138	AAA		PASS	0.493	PRAMEF6-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_001010889		26	849	26	849	---	---	---	---
C1QC	714	broad.mit.edu	37	1	22973781	22973781	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:22973781C>A	ENST00000374639.3	+	3	361	c.243C>A	c.(241-243)ccC>ccA	p.P81P	C1QC_ENST00000374640.4_Silent_p.P81P|C1QC_ENST00000374637.1_Silent_p.P81P	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	81	Collagen-like.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.P81P(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCGGCTTACCCGGCCATCCTG	0.632																																					Ovarian(26;671 750 8290 29071 43278)	uc001bgc.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(241-243)CCC>CCA		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						31.0	36.0	34.0					1																	22973781		2203	4300	6503	SO:0001819	synonymous_variant	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22973781C>A	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.243C>A	1.37:g.22973781C>A						C1QC_uc001bga.3_Silent_p.P81P|C1QC_uc001bgb.2_Silent_p.P81P	p.P81P	NM_172369	NP_758957	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	346	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	81			Collagen-like.		Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	c.243C>A	CCDS227.1																																																																																				PASS	0.632	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		23	60	23	60	---	---	---	---
MAN1C1	57134	broad.mit.edu	37	1	26104631	26104631	+	Silent	SNP	G	G	A	rs201440362		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:26104631G>A	ENST00000374332.4	+	9	1623	c.1293G>A	c.(1291-1293)ggG>ggA	p.G431G	MAN1C1_ENST00000263979.3_Silent_p.G251G|MAN1C1_ENST00000374329.1_Silent_p.G202G	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	431					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.G431G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TCTCTCCCGGGGGGCTGACCT	0.642																																						uc001bkm.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1291-1293)GGG>GGA		mannosidase, alpha, class 1C, member 1							34.0	38.0	36.0					1																	26104631		2203	4300	6503	SO:0001819	synonymous_variant	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26104631G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1293G>A	1.37:g.26104631G>A						MAN1C1_uc009vry.1_Silent_p.G251G|MAN1C1_uc001bkn.2_5'Flank	p.G431G	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	9	1623	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	431			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Silent	SNP	ENST00000374332.4	37	c.1293G>A	CCDS265.1																																																																																				PASS	0.642	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		33	55	33	55	---	---	---	---
TMEM39B	55116	broad.mit.edu	37	1	32542890	32542890	+	Silent	SNP	C	C	T	rs200377497		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:32542890C>T	ENST00000336294.5	+	5	707	c.561C>T	c.(559-561)tcC>tcT	p.S187S	TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000427288.1_Silent_p.S72S|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000456834.2_Intron	NM_018056.2	NP_060526.2	Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	187						integral component of membrane (GO:0016021)		p.S60S(1)|p.S187S(1)		endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GGACCTACTCCTTCCTGAACC	0.597																																						uc010ogv.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(559-561)TCC>TCT		transmembrane protein 39B							203.0	160.0	175.0					1																	32542890		2203	4300	6503	SO:0001819	synonymous_variant	55116					integral to membrane		g.chr1:32542890C>T	AL136695	CCDS351.2	1p35.1	2008-02-05			ENSG00000121775	ENSG00000121775			25510	protein-coding gene	gene with protein product						12477932	Standard	NM_018056		Approved	FLJ10315	uc010ogv.2	Q9GZU3	OTTHUMG00000004020	ENST00000336294.5:c.561C>T	1.37:g.32542890C>T						TMEM39B_uc010ogt.1_Intron|TMEM39B_uc010ogu.1_Silent_p.S60S|TMEM39B_uc001bue.3_Silent_p.S187S|TMEM39B_uc001buf.3_Intron|TMEM39B_uc010ogw.1_Intron	p.S187S	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN			5	707	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	187			Helical; (Potential).		B4DKN8|B4DQE6|B4DTN8|D3DPP4|Q6IA44	Silent	SNP	ENST00000336294.5	37	c.561C>T	CCDS351.2																																																																																				PASS	0.597	TMEM39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011489.2	NM_018056		28	80	28	80	---	---	---	---
TIE1	7075	broad.mit.edu	37	1	43775130	43775130	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:43775130C>G	ENST00000372476.3	+	9	1339	c.1260C>G	c.(1258-1260)gaC>gaG	p.D420E	TIE1_ENST00000433781.2_Missense_Mutation_p.D65E	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	420	Ig-like C2-type 2.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D420E(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCTTGCGGACAGTGGGTTCT	0.582																																						uc001ciu.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1)	7						c.(1258-1260)GAC>GAG		tyrosine kinase with immunoglobulin-like and							138.0	120.0	126.0					1																	43775130		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43775130C>G	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1260C>G	1.37:g.43775130C>G	ENSP00000361554:p.Asp420Glu					TIE1_uc010okd.1_Missense_Mutation_p.D420E|TIE1_uc010oke.1_Missense_Mutation_p.D375E|TIE1_uc009vwq.2_Missense_Mutation_p.D376E|TIE1_uc010okf.1_Missense_Mutation_p.D65E|TIE1_uc010okg.1_Missense_Mutation_p.D65E|TIE1_uc010okc.1_3'UTR	p.D420E	NM_005424	NP_005415	P35590	TIE1_HUMAN			9	1339	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	420			Ig-like C2-type 2.|Extracellular (Potential).		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1260C>G	CCDS482.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187797	0.78789	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.63096	-0.02;-0.02	4.87	4.87	0.63330	Immunoglobulin-like fold (1);	0.000000	0.42548	D	0.000690	T	0.79621	0.4477	M	0.75264	2.295	0.45883	D	0.998737	P;P;D;P;P	0.89917	0.879;0.9;1.0;0.807;0.92	B;P;D;B;P	0.87578	0.389;0.524;0.998;0.217;0.605	T	0.82542	-0.0405	10	0.72032	D	0.01	.	18.0168	0.89243	0.0:1.0:0.0:0.0	.	65;375;420;65;420	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	E	420;65	ENSP00000361554:D420E;ENSP00000411728:D65E	ENSP00000361554:D420E	D	+	3	2	TIE1	43547717	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	1.839000	0.39220	2.252000	0.74401	0.563000	0.77884	GAC		PASS	0.582	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424		27	40	27	40	---	---	---	---
DMAP1	55929	broad.mit.edu	37	1	44685876	44685876	+	Silent	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:44685876C>G	ENST00000372289.2	+	9	1502	c.1239C>G	c.(1237-1239)ggC>ggG	p.G413G	DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000315913.5_Silent_p.G413G|DMAP1_ENST00000361745.6_Silent_p.G413G	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	413					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)	p.G413G(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					CAGCATCAGGCCCAGGCCCGG	0.662											OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001clq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1237-1239)GGC>GGG		DNA methyltransferase 1 associated protein 1							19.0	22.0	21.0					1																	44685876		2202	4298	6500	SO:0001819	synonymous_variant	55929				DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding	g.chr1:44685876C>G	AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.1239C>G	1.37:g.44685876C>G			OREG0013438	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925	DMAP1_uc001clr.1_Silent_p.G413G|DMAP1_uc001cls.1_Silent_p.G413G|DMAP1_uc010oku.1_Silent_p.G403G	p.G413G	NM_001034024	NP_001029196	Q9NPF5	DMAP1_HUMAN			10	1319	+	Acute lymphoblastic leukemia(166;0.155)		413					A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Silent	SNP	ENST00000372289.2	37	c.1239C>G	CCDS509.1																																																																																				PASS	0.662	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020027.3	NM_019100		5	11	5	11	---	---	---	---
CCDC17	149483	broad.mit.edu	37	1	46088752	46088752	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:46088752C>A	ENST00000528266.1	-	4	678	c.531G>T	c.(529-531)cgG>cgT	p.R177R	CCDC17_ENST00000421127.2_Silent_p.R168R|CCDC17_ENST00000343901.2_Silent_p.R145R|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000464739.1_5'Flank			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	177								p.R145R(2)		kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					ACATCCCGCCCCGCGTACAGG	0.657																																						uc010olt.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(529-531)CGG>CGT		coiled-coil domain containing 17							16.0	19.0	18.0					1																	46088752		2200	4294	6494	SO:0001819	synonymous_variant	149483							g.chr1:46088752C>A		CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.531G>T	1.37:g.46088752C>A						CCDC17_uc009vxy.2_Silent_p.R145R|CCDC17_uc010ols.1_Silent_p.R168R|CCDC17_uc001com.3_5'UTR|CCDC17_uc001con.3_RNA|CCDC17_uc009vxz.2_Intron	p.R177R	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN			4	679	-	Acute lymphoblastic leukemia(166;0.155)		177			Potential.		A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Silent	SNP	ENST00000528266.1	37	c.531G>T	CCDS44131.2																																																																																				PASS	0.657	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		7	11	7	11	---	---	---	---
PIK3R3	8503	broad.mit.edu	37	1	46521483	46521483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:46521483G>A	ENST00000262741.5	-	7	1614	c.925C>T	c.(925-927)Cga>Tga	p.R309*	PIK3R3_ENST00000488808.1_5'UTR|PIK3R3_ENST00000420542.1_Nonsense_Mutation_p.R309*|PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000540385.1_Nonsense_Mutation_p.R355*|PIK3R3_ENST00000372006.1_Nonsense_Mutation_p.R309*	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	309					insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)	p.R309*(1)		endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)				Isoprenaline(DB01064)	TGTTGATCTCGGATCTTTCGC	0.458																																						uc001cpb.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(925-927)CGA>TGA		phosphoinositide-3-kinase, regulatory subunit 3							215.0	197.0	203.0					1																	46521483		2203	4300	6503	SO:0001587	stop_gained	8503				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding	g.chr1:46521483G>A	BC021622	CCDS529.1	1p34.1	2013-02-14	2008-02-04		ENSG00000117461	ENSG00000117461		"""SH2 domain containing"""	8981	protein-coding gene	gene with protein product		606076				9524259	Standard	NM_003629		Approved	p55	uc001cpb.4	Q92569	OTTHUMG00000008096	ENST00000262741.5:c.925C>T	1.37:g.46521483G>A	ENSP00000262741:p.Arg309*					PIK3R3_uc009vyb.2_Intron|PIK3R3_uc009vyc.2_Nonsense_Mutation_p.R326*|PIK3R3_uc001cpc.3_Nonsense_Mutation_p.R309*|PIK3R3_uc010olw.1_Nonsense_Mutation_p.R355*|PIK3R3_uc010olv.1_Nonsense_Mutation_p.R99*	p.R309*	NM_003629	NP_003620	Q92569	P55G_HUMAN			7	1681	-	Acute lymphoblastic leukemia(166;0.155)		309					B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2	Nonsense_Mutation	SNP	ENST00000262741.5	37	c.925C>T	CCDS529.1	.	.	.	.	.	.	.	.	.	.	G	37	6.322879	0.97471	.	.	ENSG00000117461	ENST00000372006;ENST00000262741;ENST00000420542;ENST00000540385	.	.	.	5.48	4.57	0.56435	.	0.049984	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.8266	0.29318	0.081:0.0:0.6551:0.2638	.	.	.	.	X	309;309;309;355	.	ENSP00000262741:R309X	R	-	1	2	PIK3R3	46294070	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.693000	0.37742	1.467000	0.48044	0.650000	0.86243	CGA		PASS	0.458	PIK3R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022171.1	NM_003629		6	237	6	237	---	---	---	---
TCTEX1D1	200132	broad.mit.edu	37	1	67236120	67236120	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:67236120T>C	ENST00000282670.2	+	3	298	c.170T>C	c.(169-171)aTc>aCc	p.I57T	TCTEX1D1_ENST00000491611.1_3'UTR	NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	57								p.I57T(1)		large_intestine(2)|lung(10)|skin(1)	13						CGTGATGATATCTCTCGCCTT	0.338																																						uc001dcv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)ATC>ACC		Tctex1 domain containing 1							195.0	189.0	191.0					1																	67236120		2203	4300	6503	SO:0001583	missense	200132							g.chr1:67236120T>C	AK098192	CCDS633.1	1p31.2	2008-02-05			ENSG00000152760	ENSG00000152760			26882	protein-coding gene	gene with protein product							Standard	NM_152665		Approved	FLJ40873	uc001dcv.3	Q8N7M0	OTTHUMG00000009162	ENST00000282670.2:c.170T>C	1.37:g.67236120T>C	ENSP00000282670:p.Ile57Thr					TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA	p.I57T	NM_152665	NP_689878	Q8N7M0	TC1D1_HUMAN			3	301	+			57					Q06YR9|Q5VYE1	Missense_Mutation	SNP	ENST00000282670.2	37	c.170T>C	CCDS633.1	.	.	.	.	.	.	.	.	.	.	T	8.267	0.812552	0.16537	.	.	ENSG00000152760	ENST00000282670	T	0.14640	2.49	6.06	-6.7	0.01766	.	1.833420	0.02056	N	0.050395	T	0.02304	0.0071	L	0.34521	1.04	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29852	-0.9998	10	0.11485	T	0.65	-17.5492	8.0506	0.30575	0.0:0.2764:0.3566:0.367	.	57	Q8N7M0	TC1D1_HUMAN	T	57	ENSP00000282670:I57T	ENSP00000282670:I57T	I	+	2	0	TCTEX1D1	67008708	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.016000	0.12613	-1.226000	0.02574	-0.263000	0.10527	ATC		PASS	0.338	TCTEX1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025399.2	NM_152665		69	257	69	257	---	---	---	---
SLC44A5	204962	broad.mit.edu	37	1	75684328	75684328	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:75684328T>C	ENST00000370855.5	-	17	1489	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C	SLC44A5_ENST00000370859.3_Missense_Mutation_p.Y459C|SLC44A5_ENST00000535611.1_Missense_Mutation_p.Y329C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	459					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y459C(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AAATAAGTTGTATACATGGAA	0.433																																						uc001dgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1375-1377)TAC>TGC		solute carrier family 44, member 5 isoform A							107.0	101.0	103.0					1																	75684328		2203	4300	6503	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75684328T>C	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1376A>G	1.37:g.75684328T>C	ENSP00000359892:p.Tyr459Cys					SLC44A5_uc001dgt.2_Missense_Mutation_p.Y459C|SLC44A5_uc001dgs.2_Missense_Mutation_p.Y417C|SLC44A5_uc001dgr.2_Missense_Mutation_p.Y417C|SLC44A5_uc010oqz.1_Missense_Mutation_p.Y498C|SLC44A5_uc010ora.1_Missense_Mutation_p.Y453C|SLC44A5_uc010orb.1_Missense_Mutation_p.Y329C	p.Y459C	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			17	1520	-			459			Cytoplasmic (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1376A>G	CCDS667.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099786	0.37048	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.26810	1.71;1.71;1.71	5.6	1.93	0.25924	.	0.414232	0.29822	N	0.011114	T	0.09379	0.0231	L	0.37850	1.14	0.34811	D	0.737675	B;B;B;B;B	0.28378	0.209;0.209;0.209;0.08;0.175	B;B;B;B;B	0.38954	0.286;0.208;0.286;0.132;0.188	T	0.11842	-1.0571	10	0.62326	D	0.03	-4.8562	0.9874	0.01449	0.4705:0.1734:0.1184:0.2377	.	453;498;459;459;498	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	C	459;498;459;329;452	ENSP00000359896:Y459C;ENSP00000359892:Y459C;ENSP00000443090:Y329C	ENSP00000359892:Y459C	Y	-	2	0	SLC44A5	75456916	1.000000	0.71417	0.854000	0.33618	0.954000	0.61252	1.622000	0.36997	1.063000	0.40649	0.533000	0.62120	TAC		PASS	0.433	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		40	83	40	83	---	---	---	---
USP33	23032	broad.mit.edu	37	1	78163019	78163019	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:78163019C>T	ENST00000370793.1	-	25	3158	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	USP33_ENST00000370794.3_Missense_Mutation_p.E907K|USP33_ENST00000357428.1_Missense_Mutation_p.E938K	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	938					axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.E938K(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GACCGAGTTTCTACTTCAATT	0.398																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(2812-2814)GAA>AAA		ubiquitin specific protease 33 isoform 1							98.0	99.0	99.0					1																	78163019		2203	4300	6503	SO:0001583	missense	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78163019C>T	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2812G>A	1.37:g.78163019C>T	ENSP00000359829:p.Glu938Lys					USP33_uc009wca.1_RNA|USP33_uc001dhs.2_3'UTR|USP33_uc001dhu.2_Missense_Mutation_p.E907K	p.E938K	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			25	3159	-			938					Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Missense_Mutation	SNP	ENST00000370793.1	37	c.2812G>A	CCDS678.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379257	0.95945	.	.	ENSG00000077254	ENST00000370794;ENST00000370793;ENST00000357428	T;T;T	0.15139	2.48;2.45;2.45	4.96	4.96	0.65561	.	0.217658	0.45867	D	0.000324	T	0.32852	0.0843	M	0.71581	2.175	0.80722	D	1	D	0.55605	0.972	P	0.62885	0.908	T	0.10474	-1.0628	10	0.72032	D	0.01	.	18.5991	0.91240	0.0:1.0:0.0:0.0	.	938	Q8TEY7	UBP33_HUMAN	K	907;938;938	ENSP00000359830:E907K;ENSP00000359829:E938K;ENSP00000350009:E938K	ENSP00000350009:E938K	E	-	1	0	USP33	77935607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.366000	0.79548	2.452000	0.82932	0.555000	0.69702	GAA		PASS	0.398	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017		39	127	39	127	---	---	---	---
COL24A1	255631	broad.mit.edu	37	1	86306919	86306919	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:86306919G>C	ENST00000370571.2	-	42	3979	c.3613C>G	c.(3613-3615)Cct>Gct	p.P1205A	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1205A	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1205	Collagen-like 13.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.P1205A(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCACCTCGAGGCCCAGGTGGT	0.318																																						uc001dlj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3613-3615)CCT>GCT		collagen, type XXIV, alpha 1 precursor							49.0	46.0	47.0					1																	86306919		1814	4076	5890	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86306919G>C	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3613C>G	1.37:g.86306919G>C	ENSP00000359603:p.Pro1205Ala					COL24A1_uc001dli.2_Missense_Mutation_p.P341A|COL24A1_uc010osd.1_Missense_Mutation_p.P505A|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA	p.P1205A	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	42	3655	-			1205			Collagen-like 13.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3613C>G	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.510364	0.27036	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;D	0.98633	1.29;-5.04	5.2	3.18	0.36537	.	0.316722	0.17728	N	0.163994	D	0.96759	0.8942	L	0.46947	1.48	0.47819	D	0.999528	D;P	0.55605	0.972;0.845	P;P	0.55303	0.773;0.646	D	0.94889	0.8046	10	0.18710	T	0.47	.	10.6408	0.45592	0.0:0.1436:0.7077:0.1487	.	1205;1205	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	A	1205	ENSP00000359603:P1205A;ENSP00000392531:P1205A	ENSP00000359603:P1205A	P	-	1	0	COL24A1	86079507	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.042000	0.57347	1.171000	0.42768	0.557000	0.71058	CCT		PASS	0.318	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890		23	73	23	73	---	---	---	---
PLPPR4	9890	broad.mit.edu	37	1	99771562	99771562	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:99771562A>G	ENST00000370185.3	+	7	1785	c.1288A>G	c.(1288-1290)Aga>Gga	p.R430G	LPPR4_ENST00000370184.1_Missense_Mutation_p.R272G|LPPR4_ENST00000457765.1_Missense_Mutation_p.R372G	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		430					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.R430G(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGACCCTGTCAGAAGAAATGC	0.493																																						uc001dse.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1288-1290)AGA>GGA		plasticity related gene 1							64.0	66.0	65.0					1																	99771562		2203	4300	6503	SO:0001583	missense	9890						phosphatidate phosphatase activity	g.chr1:99771562A>G																												ENST00000370185.3:c.1288A>G	1.37:g.99771562A>G	ENSP00000359204:p.Arg430Gly					LPPR4_uc010oue.1_Missense_Mutation_p.R372G	p.R430G	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1394	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	430					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.1288A>G	CCDS757.1	.	.	.	.	.	.	.	.	.	.	A	9.431	1.085565	0.20390	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.32023	2.03;1.91;1.47	5.5	0.126	0.14722	.	0.563274	0.18898	N	0.128105	T	0.34454	0.0898	L	0.58810	1.83	0.49483	D	0.999799	D;D	0.69078	0.992;0.997	P;D	0.63703	0.754;0.917	T	0.19844	-1.0293	9	.	.	.	-22.8794	15.9862	0.80155	0.4129:0.5871:0.0:0.0	.	372;430	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	G	430;372;430;272	ENSP00000359204:R430G;ENSP00000394913:R372G;ENSP00000359203:R272G	.	R	+	1	2	RP4-788L13.1	99544150	0.294000	0.24380	0.832000	0.32986	0.076000	0.17211	1.013000	0.29937	-0.234000	0.09782	-1.262000	0.01453	AGA		PASS	0.493	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			33	65	33	65	---	---	---	---
VCAM1	7412	broad.mit.edu	37	1	101196814	101196814	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:101196814C>A	ENST00000294728.2	+	6	1366	c.1265C>A	c.(1264-1266)aCt>aAt	p.T422N	VCAM1_ENST00000370119.4_Missense_Mutation_p.T360N|VCAM1_ENST00000347652.2_Missense_Mutation_p.T330N|VCAM1_ENST00000370115.1_Intron	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	422	Ig-like C2-type 5.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.T422N(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	AGCTCTGTCACTGTAAGCTGC	0.448																																						uc001dti.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1264-1266)ACT>AAT		vascular cell adhesion molecule 1 isoform a	Carvedilol(DB01136)						69.0	70.0	69.0					1																	101196814		2203	4300	6503	SO:0001583	missense	7412				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	g.chr1:101196814C>A	M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1265C>A	1.37:g.101196814C>A	ENSP00000294728:p.Thr422Asn					VCAM1_uc001dtj.2_Missense_Mutation_p.T330N|VCAM1_uc010ouj.1_Missense_Mutation_p.T360N	p.T422N	NM_001078	NP_001069	P19320	VCAM1_HUMAN		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	6	1385	+		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)	422			Ig-like C2-type 5.|Extracellular (Potential).		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	c.1265C>A	CCDS773.1	.	.	.	.	.	.	.	.	.	.	C	8.492	0.862257	0.17178	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728	T;T;T	0.28069	1.63;1.63;1.63	5.52	2.55	0.30701	Immunoglobulin C2-set (1);Immunoglobulin-like fold (1);	0.719964	0.14361	N	0.324428	T	0.14787	0.0357	L	0.56396	1.775	0.38459	D	0.947168	B;B;B	0.27679	0.083;0.185;0.046	B;B;B	0.33254	0.06;0.16;0.075	T	0.04976	-1.0914	10	0.19147	T	0.46	-7.3778	10.2411	0.43312	0.2761:0.5911:0.1328:0.0	.	360;330;422	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	N	360;330;422	ENSP00000359137:T360N;ENSP00000304611:T330N;ENSP00000294728:T422N	ENSP00000294728:T422N	T	+	2	0	VCAM1	100969402	0.006000	0.16342	0.012000	0.15200	0.220000	0.24768	0.222000	0.17699	0.401000	0.25424	0.563000	0.77884	ACT		PASS	0.448	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1	NM_001078		30	69	30	69	---	---	---	---
STRIP1	85369	broad.mit.edu	37	1	110594511	110594511	+	Splice_Site	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:110594511T>A	ENST00000369795.3	+	20	2288		c.e20+2		STRIP1_ENST00000369796.1_Splice_Site	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1						cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.?(1)									ACGGCAATGGTGAGACTCTGC	0.562																																						uc001dza.1																			1	Unknown(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.e20+2		hypothetical protein LOC85369							88.0	80.0	82.0					1																	110594511		2203	4300	6503	SO:0001630	splice_region_variant	85369					nucleus	protein binding	g.chr1:110594511T>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.2266+2T>A	1.37:g.110594511T>A						FAM40A_uc001dyz.1_Splice_Site_p.D661_splice|FAM40A_uc009wfp.1_Splice_Site_p.D580_splice	p.D756_splice	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)	20	2285	+		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)						Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Splice_Site	SNP	ENST00000369795.3	37	c.2266_splice	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665674	0.67700	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6637	0.68891	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM40A	110396034	1.000000	0.71417	1.000000	0.80357	0.566000	0.35808	7.949000	0.87791	2.105000	0.64084	0.459000	0.35465	.		PASS	0.562	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088	Intron	20	44	20	44	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118548128	118548128	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:118548128T>C	ENST00000336338.5	-	32	4750	c.4685A>G	c.(4684-4686)aAg>aGg	p.K1562R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1562						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.K1562R(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCTCACGCTTTTGAAAAGG	0.448																																						uc001ehk.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4684-4686)AAG>AGG		sperm associated antigen 17							121.0	117.0	119.0					1																	118548128		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118548128T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4685A>G	1.37:g.118548128T>C	ENSP00000337804:p.Lys1562Arg						p.K1562R	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	32	4753	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1562					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.4685A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	10.97	1.502968	0.26949	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.19806	2.12	5.72	3.37	0.38596	.	0.569182	0.19678	N	0.108579	T	0.05960	0.0155	L	0.41236	1.265	0.09310	N	1	B	0.28850	0.225	B	0.28849	0.095	T	0.23726	-1.0180	10	0.56958	D	0.05	.	4.2127	0.10519	0.1543:0.1525:0.0:0.6933	.	1562	Q6Q759	SPG17_HUMAN	R	1562;42	ENSP00000337804:K1562R	ENSP00000337804:K1562R	K	-	2	0	SPAG17	118349651	0.002000	0.14202	0.784000	0.31847	0.204000	0.24138	0.971000	0.29396	0.952000	0.37798	0.533000	0.62120	AAG		PASS	0.448	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		25	83	25	83	---	---	---	---
SPAG17	200162	broad.mit.edu	37	1	118554860	118554860	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:118554860G>A	ENST00000336338.5	-	30	4488	c.4423C>T	c.(4423-4425)Caa>Taa	p.Q1475*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1475						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.Q1475*(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTGTTTCTTGATCATCTGGC	0.338																																						uc001ehk.2																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(4423-4425)CAA>TAA		sperm associated antigen 17							132.0	125.0	127.0					1																	118554860		2203	4300	6503	SO:0001587	stop_gained	200162					cilium|flagellar axoneme|microtubule		g.chr1:118554860G>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4423C>T	1.37:g.118554860G>A	ENSP00000337804:p.Gln1475*						p.Q1475*	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	30	4491	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1475					Q8NAZ1|Q9NT21	Nonsense_Mutation	SNP	ENST00000336338.5	37	c.4423C>T	CCDS899.1	.	.	.	.	.	.	.	.	.	.	G	39	7.756629	0.98471	.	.	ENSG00000155761	ENST00000336338	.	.	.	4.58	3.64	0.41730	.	0.637219	0.15901	N	0.239068	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	10.9145	0.47129	0.0:0.388:0.612:0.0	.	.	.	.	X	1475	.	ENSP00000337804:Q1475X	Q	-	1	0	SPAG17	118356383	0.037000	0.19845	0.974000	0.42286	0.189000	0.23516	0.019000	0.13444	1.102000	0.41551	0.557000	0.71058	CAA		PASS	0.338	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		46	114	46	114	---	---	---	---
PDE4DIP	9659	broad.mit.edu	37	1	144879133	144879133	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:144879133C>G	ENST00000369354.3	-	27	4506	c.4317G>C	c.(4315-4317)gaG>gaC	p.E1439D	AL138796.1_ENST00000582173.1_RNA|RP4-791M13.5_ENST00000531288.1_RNA|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E1439D|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E1395D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E1575D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E1575D			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1439					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.E1439D(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGATGAGACTCTCCAGGTCCT	0.562			T	PDGFRB	MPD																																	uc001elw.3				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		2	Substitution - Missense(2)		lung(2)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4315-4317)GAG>GAC		phosphodiesterase 4D interacting protein isoform							95.0	103.0	100.0					1																	144879133		2203	4300	6503	SO:0001583	missense	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879133C>G	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4317G>C	1.37:g.144879133C>G	ENSP00000358360:p.Glu1439Asp					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.E1395D|PDE4DIP_uc001elv.3_Missense_Mutation_p.E446D	p.E1439D	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	4608	-			1439			Potential.		A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.4317G>C	CCDS30824.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101638	0.37048	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01981	4.52;4.59;4.6;4.61;4.6	5.55	1.48	0.22813	.	.	.	.	.	T	0.01222	0.0040	M	0.62723	1.935	0.80722	D	1	B;B	0.24186	0.099;0.023	B;B	0.26202	0.067;0.016	T	0.45614	-0.9249	9	0.51188	T	0.08	.	7.663	0.28415	0.1192:0.6659:0.0:0.2149	.	1395;1439	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	D	1395;1439;1439;1575;1575	ENSP00000327209:E1395D;ENSP00000358360:E1439D;ENSP00000358363:E1439D;ENSP00000435654:E1575D;ENSP00000358366:E1575D	ENSP00000327209:E1395D	E	-	3	2	PDE4DIP	143590490	0.020000	0.18652	0.831000	0.32960	0.848000	0.48234	0.107000	0.15375	-0.174000	0.10743	-1.094000	0.02160	GAG		PASS	0.562	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		45	208	45	208	---	---	---	---
GJA8	2703	broad.mit.edu	37	1	147380454	147380454	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:147380454G>T	ENST00000369235.1	+	1	372	c.372G>T	c.(370-372)ccG>ccT	p.P124P	GJA8_ENST00000240986.4_Silent_p.P124P			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	124					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)	p.P124P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					ACGGCGGCCCGGACCAGGGCA	0.642																																					Melanoma(76;1255 1795 8195 52096)	uc001epu.1																			1	Substitution - coding silent(1)	p.P124L(1)	lung(1)	ovary(2)|large_intestine(2)|breast(1)|skin(1)	6						c.(370-372)CCG>CCT		connexin 50							43.0	51.0	48.0					1																	147380454		2203	4300	6503	SO:0001819	synonymous_variant	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380454G>T	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.372G>T	1.37:g.147380454G>T							p.P124P	NM_005267	NP_005258	P48165	CXA8_HUMAN			2	435	+	all_hematologic(923;0.0276)		124			Cytoplasmic (Potential).		A7L5M5|Q5VVN9|Q9NP25	Silent	SNP	ENST00000369235.1	37	c.372G>T	CCDS30834.1																																																																																				PASS	0.642	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		15	25	15	25	---	---	---	---
NBPF20	100288142	broad.mit.edu	37	1	148344739	148344739	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:148344739T>A	ENST00000369202.1	-	3	376	c.179A>T	c.(178-180)tAt>tTt	p.Y60F	NBPF20_ENST00000414710.2_Missense_Mutation_p.Y60F			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	60						cytoplasm (GO:0005737)		p.Y60F(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						ACACTCTTCATAGTCTGAGAA	0.517																																						uc001eqf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)TAT>TTT		hypothetical protein LOC55672							72.0	73.0	72.0					1																	148344739		1784	3887	5671	SO:0001583	missense	200030					cytoplasm		g.chr1:148344739T>A		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.179A>T	1.37:g.148344739T>A	ENSP00000358203:p.Tyr60Phe					LOC200030_uc001eqe.2_Intron|LOC200030_uc001eqg.2_Intron|NBPF14_uc009wkf.1_Intron|uc001erd.3_Missense_Mutation_p.Y60F|uc001erc.3_Intron|uc010paj.1_Intron|uc010pau.1_5'Flank|uc010pav.1_Missense_Mutation_p.Y60F|uc010paw.1_Intron	p.Y60F	NM_017940	NP_060410	Q86T75	NBPFB_HUMAN			2	214	-			60						Missense_Mutation	SNP	ENST00000369202.1	37	c.179A>T		.	.	.	.	.	.	.	.	.	.	.	1.424	-0.571972	0.03882	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.04862	3.9;4.01;3.54	0.521	-1.04	0.10068	.	.	.	.	.	T	0.01353	0.0044	.	.	.	0.21105	N	0.999784	P;P	0.39940	0.618;0.696	B;P	0.47044	0.064;0.535	T	0.26503	-1.0101	6	0.10111	T	0.7	.	.	.	.	.	60;60	Q6P3W6;F5H1Q5	NBPFA_HUMAN;.	F	60	ENSP00000358203:Y60F;ENSP00000358189:Y60F;ENSP00000389520:Y60F	ENSP00000358189:Y60F	Y	-	2	0	NBPF20	146711363	0.627000	0.27129	0.002000	0.10522	0.006000	0.05464	-0.505000	0.06367	-1.518000	0.01778	-1.386000	0.01163	TAT		PASS	0.517	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2			15	378	15	378	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152281121	152281121	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:152281121C>G	ENST00000368799.1	-	3	6276	c.6241G>C	c.(6241-6243)Ggg>Cgg	p.G2081R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2081	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G2081R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTTTCCCCTGACTGGCCA	0.567									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(6241-6243)GGG>CGG		filaggrin							302.0	245.0	264.0					1																	152281121		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281121C>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6241G>C	1.37:g.152281121C>G	ENSP00000357789:p.Gly2081Arg						p.G2081R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6277	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2081			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6241G>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	4.610	0.113311	0.08831	.	.	ENSG00000143631	ENST00000368799	T	0.00745	5.75	2.13	0.989	0.19802	.	.	.	.	.	T	0.00241	0.0007	L	0.38175	1.15	0.09310	N	1	B	0.31290	0.318	B	0.16722	0.016	T	0.38672	-0.9650	9	0.35671	T	0.21	.	3.6994	0.08376	0.0:0.6789:0.0:0.3211	.	2081	P20930	FILA_HUMAN	R	2081	ENSP00000357789:G2081R	ENSP00000357789:G2081R	G	-	1	0	FLG	150547745	0.000000	0.05858	0.004000	0.12327	0.087000	0.18053	-1.611000	0.02062	0.305000	0.22832	0.485000	0.47835	GGG		PASS	0.567	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		7	474	7	474	---	---	---	---
NPR1	4881	broad.mit.edu	37	1	153659831	153659831	+	Splice_Site	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:153659831C>A	ENST00000368680.3	+	13	2563	c.2091C>A	c.(2089-2091)gcC>gcA	p.A697A		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	697	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)	p.A697A(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CCGTTTATGCCAGTGAGCCTT	0.572																																					Pancreas(141;1349 1870 15144 15830 40702)	uc001fcs.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|lung(2)|stomach(1)|breast(1)	7						c.(2089-2091)GCC>GCA		natriuretic peptide receptor 1 precursor	Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)						99.0	77.0	85.0					1																	153659831		2203	4300	6503	SO:0001630	splice_region_variant	4881				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	g.chr1:153659831C>A	BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2092+1C>A	1.37:g.153659831C>A						NPR1_uc010pdz.1_Silent_p.A443A|NPR1_uc010pea.1_Silent_p.A175A	p.A697A	NM_000906	NP_000897	P16066	ANPRA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		13	2512	+	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		697			Cytoplasmic (Potential).|Protein kinase.		B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	ENST00000368680.3	37	c.2091C>A	CCDS1051.1																																																																																				PASS	0.572	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906	Silent	21	35	21	35	---	---	---	---
EFNA3	1944	broad.mit.edu	37	1	155058639	155058639	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:155058639C>A	ENST00000368408.3	+	4	614	c.544C>A	c.(544-546)Ccc>Acc	p.P182T	EFNA3_ENST00000556931.1_Missense_Mutation_p.P177T|EFNA3_ENST00000418360.2_Intron|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000505139.1_Missense_Mutation_p.P177T	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	182					axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)	p.P182T(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCCCACTCTCCCCCAGTTCAC	0.692											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001fhf.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)CCC>ACC		ephrin A3 precursor							40.0	39.0	40.0					1																	155058639		2203	4299	6502	SO:0001583	missense	1944				cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr1:155058639C>A	BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.544C>A	1.37:g.155058639C>A	ENSP00000357393:p.Pro182Thr		OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	220	EFNA3_uc010pew.1_Missense_Mutation_p.P177T|EFNA3_uc010pex.1_Intron|EFNA3_uc001fhg.2_Missense_Mutation_p.P159T	p.P182T	NM_004952	NP_004943	P52797	EFNA3_HUMAN	all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)		4	614	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		182					B7ZAD3|D3DV85|Q0VGC9|Q5SR70	Missense_Mutation	SNP	ENST00000368408.3	37	c.544C>A	CCDS1090.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484900	0.63962	.	.	ENSG00000143590;ENSG00000143590;ENSG00000251246	ENST00000556931;ENST00000368408;ENST00000505139	D;D;D	0.95001	-3.58;-3.58;-3.58	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000002	D	0.90793	0.7109	L	0.27053	0.805	0.80722	D	1	P;D	0.62365	0.925;0.991	P;P	0.55011	0.549;0.766	D	0.88845	0.3315	10	0.21540	T	0.41	-16.603	15.1743	0.72899	0.0:1.0:0.0:0.0	.	177;182	B4DXG7;P52797	.;EFNA3_HUMAN	T	177;182;177	ENSP00000450814:P177T;ENSP00000357393:P182T;ENSP00000426741:P177T	ENSP00000357393:P182T	P	+	1	0	RP11-540D14.8;EFNA3	153325263	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.241000	0.43097	2.525000	0.85131	0.456000	0.33151	CCC		PASS	0.692	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1	NM_004952		3	39	3	39	---	---	---	---
MEX3A	92312	broad.mit.edu	37	1	156047322	156047322	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:156047322C>A	ENST00000532414.2	-	2	605	c.606G>T	c.(604-606)atG>atT	p.M202I	AL355388.1_ENST00000410679.1_RNA|MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	202						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M202I(1)|p.M321I(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGGCACGGATCATGGAGAAGT	0.667																																						uc001fnd.3																			2	Substitution - Missense(2)		lung(2)		0						c.(604-606)ATG>ATT		MEX3A protein							44.0	51.0	48.0					1																	156047322		2170	4277	6447	SO:0001583	missense	92312					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding	g.chr1:156047322C>A	AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.606G>T	1.37:g.156047322C>A	ENSP00000432845:p.Met202Ile						p.M202I	NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN			2	606	-	Hepatocellular(266;0.158)|all_neural(408;0.195)		202						Missense_Mutation	SNP	ENST00000532414.2	37	c.606G>T	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	17.21	3.332869	0.60853	.	.	ENSG00000254726	ENST00000532414	T	0.47869	0.83	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.25754	0.0627	L	0.39245	1.2	0.80722	D	1	P	0.34699	0.464	B	0.28784	0.094	T	0.08472	-1.0720	10	0.35671	T	0.21	.	17.1894	0.86875	0.0:1.0:0.0:0.0	.	202	A1L020	MEX3A_HUMAN	I	202	ENSP00000432845:M202I	ENSP00000432845:M202I	M	-	3	0	MEX3A	154313946	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.089000	0.71384	2.409000	0.81822	0.462000	0.41574	ATG		PASS	0.667	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3	NM_001093725		5	17	5	17	---	---	---	---
FCRL3	115352	broad.mit.edu	37	1	157667699	157667699	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:157667699G>T	ENST00000368184.3	-	5	600	c.309C>A	c.(307-309)atC>atA	p.I103I	FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000368186.5_Silent_p.I103I	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	103	Ig-like C2-type 2.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I103I(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AAGCCTGCAGGATCAGCCAGT	0.463																																						uc001frb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(307-309)ATC>ATA		Fc receptor-like 3 precursor							52.0	47.0	49.0					1																	157667699		2203	4299	6502	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157667699G>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.309C>A	1.37:g.157667699G>T						FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.I103I|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Silent_p.I103I	p.I103I	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN			5	601	-	all_hematologic(112;0.0378)		103			Ig-like C2-type 2.|Extracellular (Potential).		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.309C>A	CCDS1167.1																																																																																				PASS	0.463	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		25	34	25	34	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576965	158576965	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:158576965C>G	ENST00000361284.1	+	1	737	c.737C>G	c.(736-738)aCa>aGa	p.T246R		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, 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.T246R(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCGCACCTTACAGTGGTCATT	0.502																																						uc010pio.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(736-738)ACA>AGA		olfactory receptor, family 10, subfamily Z,							197.0	199.0	198.0					1																	158576965		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576965C>G	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.737C>G	1.37:g.158576965C>G	ENSP00000354707:p.Thr246Arg						p.T246R	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	737	+	all_hematologic(112;0.0378)		246			Helical; Name=6; (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.737C>G	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.822208	0.50739	.	.	ENSG00000198967	ENST00000361284	T	0.39056	1.1	5.25	4.34	0.51931	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000688	T	0.62295	0.2416	H	0.96175	3.78	0.31766	N	0.632729	P	0.49696	0.927	P	0.58266	0.836	T	0.72557	-0.4257	10	0.72032	D	0.01	.	12.6736	0.56880	0.0:0.9197:0.0:0.0803	.	246	Q8NGY1	O10Z1_HUMAN	R	246	ENSP00000354707:T246R	ENSP00000354707:T246R	T	+	2	0	OR10Z1	156843589	0.000000	0.05858	0.877000	0.34402	0.683000	0.39861	-0.391000	0.07323	1.443000	0.47586	0.650000	0.86243	ACA		PASS	0.502	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		79	187	79	187	---	---	---	---
OR6K2	81448	broad.mit.edu	37	1	158670043	158670043	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:158670043T>C	ENST00000359610.2	-	1	443	c.400A>G	c.(400-402)Atc>Gtc	p.I134V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I134V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GGGGTCATGATAGAGGGATAA	0.478																																						uc001fsu.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(400-402)ATC>GTC		olfactory receptor, family 6, subfamily K,							116.0	105.0	109.0					1																	158670043		2203	4300	6503	SO:0001583	missense	81448				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158670043T>C	BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.400A>G	1.37:g.158670043T>C	ENSP00000352626:p.Ile134Val						p.I134V	NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN			1	400	-	all_hematologic(112;0.0378)		134			Cytoplasmic (Potential).		B9EH33|Q6IFR6	Missense_Mutation	SNP	ENST00000359610.2	37	c.400A>G	CCDS30902.1	.	.	.	.	.	.	.	.	.	.	T	7.208	0.594831	0.13875	.	.	ENSG00000196171	ENST00000359610	T	0.02050	4.48	4.7	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.650925	0.12550	N	0.459165	T	0.00784	0.0026	L	0.43646	1.37	0.09310	N	0.999999	B	0.24882	0.113	B	0.24974	0.057	T	0.48127	-0.9062	10	0.45353	T	0.12	-4.1157	4.393	0.11350	0.0:0.1762:0.3342:0.4896	.	134	Q8NGY2	OR6K2_HUMAN	V	134	ENSP00000352626:I134V	ENSP00000352626:I134V	I	-	1	0	OR6K2	156936667	0.000000	0.05858	0.954000	0.39281	0.731000	0.41821	-0.928000	0.03980	0.276000	0.22118	-0.274000	0.10170	ATC		PASS	0.478	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059061.1	NM_001005279		36	71	36	71	---	---	---	---
OR10J3	441911	broad.mit.edu	37	1	159284278	159284278	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:159284278T>A	ENST00000332217.5	-	1	171	c.172A>T	c.(172-174)Acc>Tcc	p.T58S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	58						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T58S(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TACATGGGGGTGTGAAGATGA	0.453																																						uc010piu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(172-174)ACC>TCC		olfactory receptor, family 10, subfamily J,							203.0	202.0	202.0					1																	159284278		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284278T>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.172A>T	1.37:g.159284278T>A	ENSP00000331789:p.Thr58Ser						p.T58S	NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN			1	172	-	all_hematologic(112;0.0429)		58			Helical; Name=2; (Potential).			Missense_Mutation	SNP	ENST00000332217.5	37	c.172A>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	T	17.77	3.471682	0.63737	.	.	ENSG00000196266	ENST00000332217	T	0.00473	7.18	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.270973	0.19350	U	0.116435	T	0.00271	0.0008	M	0.67517	2.055	0.25102	N	0.99078	P	0.45768	0.866	B	0.42555	0.391	T	0.48990	-0.8985	10	0.54805	T	0.06	.	12.9931	0.58632	0.0:0.0:0.0:1.0	.	58	Q5JRS4	O10J3_HUMAN	S	58	ENSP00000331789:T58S	ENSP00000331789:T58S	T	-	1	0	OR10J3	157550902	0.014000	0.17966	0.526000	0.27913	0.711000	0.40976	1.912000	0.39946	2.170000	0.68504	0.459000	0.35465	ACC		PASS	0.453	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			60	136	60	136	---	---	---	---
FCGR3A	2214	broad.mit.edu	37	1	161560953	161560953	+	Intron	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:161560953C>G	ENST00000540048.1	-	2	94				FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000367962.4_Intron|FCGR2B_ENST00000367960.5_Intron|FCGR2B_ENST00000403078.3_Intron|RP11-25K21.6_ENST00000537821.2_RNA|FCGR2C_ENST00000473530.2_RNA|FCGR2C_ENST00000466542.2_RNA			P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TGCTCCAGACCCCTCACCTGG	0.552																																						uc001gav.2																			0					0						c.(409-411)ACC>ACG		Fc fragment of IgG, low affinity IIc, receptor							15.0	19.0	17.0					1																	161560953		2110	4180	6290	SO:0001627	intron_variant	9103							g.chr1:161560953C>G	BC036723	CCDS1232.1, CCDS44266.1	1q23	2014-09-17	2005-02-02		ENSG00000203747	ENSG00000203747		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3619	protein-coding gene	gene with protein product		146740	"""Fc fragment of IgG, low affinity IIIa, receptor for (CD16)"""	FCGR3, FCG3		2139735	Standard	NM_001127592		Approved	CD16, CD16a	uc001gar.3	P08637	OTTHUMG00000034466	ENST00000540048.1:c.61+39204G>C	1.37:g.161560953C>G						FCGR2C_uc009wuj.2_RNA|FCGR2C_uc009wuk.2_RNA	p.T137T	NM_201563	NP_963857			BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	510	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)							A2N6W9|Q53FJ0|Q53FL6|Q5EBR4|Q65ZM6|Q6PIJ0	Silent	SNP	ENST00000540048.1	37	c.411C>G																																																																																					PASS	0.552	FCGR3A-203	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_000569		5	16	5	16	---	---	---	---
C1orf110	339512	broad.mit.edu	37	1	162824606	162824606	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:162824606C>A	ENST00000367910.1	-	4	978	c.858G>T	c.(856-858)agG>agT	p.R286S	C1orf110_ENST00000367912.2_Intron|C1orf110_ENST00000367911.2_Intron|C1orf110_ENST00000524691.1_Intron	NM_178550.4	NP_848645.3	Q86UF4	CA110_HUMAN	chromosome 1 open reading frame 110	286								p.R286S(1)		endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						CCTTTCCTGCCCTGGATGATG	0.468																																						uc001gck.2																			1	Substitution - Missense(1)		lung(1)		0						c.(856-858)AGG>AGT		hypothetical protein LOC339512							100.0	97.0	98.0					1																	162824606		1907	4121	6028	SO:0001583	missense	339512							g.chr1:162824606C>A	BC040018	CCDS44269.1	1q23.3	2012-06-26			ENSG00000185860	ENSG00000185860			28736	protein-coding gene	gene with protein product						12477932	Standard	NM_178550		Approved	MGC48998	uc001gck.2	Q86UF4	OTTHUMG00000034421	ENST00000367910.1:c.858G>T	1.37:g.162824606C>A	ENSP00000356886:p.Arg286Ser					C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.R285S	p.R286S	NM_178550	NP_848645	Q86UF4	CA110_HUMAN			4	1033	-			286					Q5JSG1|Q6ZW57	Missense_Mutation	SNP	ENST00000367910.1	37	c.858G>T	CCDS44269.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701404	0.48307	.	.	ENSG00000185860	ENST00000367910	.	.	.	4.2	-2.37	0.06643	.	0.368951	0.23455	N	0.047981	T	0.12305	0.0299	L	0.29908	0.895	0.32756	N	0.505727	P	0.37207	0.587	B	0.36289	0.221	T	0.07046	-1.0793	8	0.87932	D	0	-0.2906	8.8671	0.35294	0.0:0.4609:0.0:0.5391	.	286	Q86UF4	CA110_HUMAN	S	286	.	ENSP00000356886:R286S	R	-	3	2	C1orf110	161091230	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.143000	0.03200	-0.837000	0.04223	0.655000	0.94253	AGG		PASS	0.468	C1orf110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083211.2	NM_178550		49	94	49	94	---	---	---	---
TADA1	117143	broad.mit.edu	37	1	166839015	166839015	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:166839015G>A	ENST00000367874.4	-	2	244	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F		NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	51					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)	p.L51F(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						TCCTGTGTGAGAAGTCTATGA	0.353																																						uc001gdw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(151-153)CTC>TTC		transcriptional adaptor 1-like							130.0	134.0	133.0					1																	166839015		2203	4300	6503	SO:0001583	missense	117143				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr1:166839015G>A	BC015401	CCDS1255.1	1q24.1	2009-10-02	2009-10-02	2009-10-02	ENSG00000152382	ENSG00000152382			30631	protein-coding gene	gene with protein product		612763	"""transcriptional adaptor 1 (HFI1 homolog, yeast)-like"", ""transcriptional adaptor 1 (HFI1 homolog, yeast)"""	TADA1L		11564863	Standard	NM_053053		Approved	STAF42, ADA1, hADA1, HFI1	uc001gdw.3	Q96BN2	OTTHUMG00000034321	ENST00000367874.4:c.151C>T	1.37:g.166839015G>A	ENSP00000356848:p.Leu51Phe					TADA1_uc009wve.2_Missense_Mutation_p.L51F	p.L51F	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN			2	335	-			51					A8K4J9	Missense_Mutation	SNP	ENST00000367874.4	37	c.151C>T	CCDS1255.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090368	0.76756	.	.	ENSG00000152382	ENST00000367874	T	0.68025	-0.3	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.70718	0.3256	L	0.37697	1.125	0.50171	D	0.999858	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.73827	-0.3860	9	0.72032	D	0.01	-25.4364	17.1185	0.86695	0.0:0.0:1.0:0.0	.	51;51	A8K4J9;Q96BN2	.;TADA1_HUMAN	F	51	ENSP00000356848:L51F	ENSP00000356848:L51F	L	-	1	0	TADA1	165105639	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.448000	0.66612	2.707000	0.92482	0.655000	0.94253	CTC		PASS	0.353	TADA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082881.1	NM_053053		71	182	71	182	---	---	---	---
MAEL	84944	broad.mit.edu	37	1	166987183	166987183	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:166987183C>A	ENST00000367872.4	+	10	1272	c.1028C>A	c.(1027-1029)gCa>gAa	p.A343E	MAEL_ENST00000367870.2_Missense_Mutation_p.A312E|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	343					cell differentiation (GO:0030154)|cell morphogenesis (GO:0000902)|DNA methylation involved in gamete generation (GO:0043046)|fertilization (GO:0009566)|gene silencing by RNA (GO:0031047)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male meiosis (GO:0007140)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|piRNA metabolic process (GO:0034587)|regulation of organ growth (GO:0046620)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	autosome (GO:0030849)|chromatin (GO:0000785)|chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|perinuclear region of cytoplasm (GO:0048471)|piP-body (GO:0071547)|XY body (GO:0001741)	DNA binding (GO:0003677)	p.A343E(1)		breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GTATTGGATGCAGGGCGTTAC	0.458																																						uc001gdy.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1027-1029)GCA>GAA		maelstrom homolog							152.0	128.0	136.0					1																	166987183		2203	4300	6503	SO:0001583	missense	84944				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding	g.chr1:166987183C>A	AK027810, DQ076156	CCDS1257.1, CCDS65712.1, CCDS72975.1	1q24.1	2013-10-11	2012-12-18		ENSG00000143194	ENSG00000143194			25929	protein-coding gene	gene with protein product	"""cancer/testis antigen 128"", ""spermatogenesis associated 35"""	611368	"""maelstrom homolog (Drosophila)"""			19693694, 18694567	Standard	NM_001286378		Approved	FLJ14904, CT128, SPATA35	uc001gdy.1	Q96JY0	OTTHUMG00000034432	ENST00000367872.4:c.1028C>A	1.37:g.166987183C>A	ENSP00000356846:p.Ala343Glu					MAEL_uc001gdz.1_Missense_Mutation_p.A312E|MAEL_uc009wvf.1_RNA	p.A343E	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN			10	1099	+			343					B4DY43|E9JVC3|Q49AP9|Q5VZP8|Q9UIW6	Missense_Mutation	SNP	ENST00000367872.4	37	c.1028C>A	CCDS1257.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.212978	0.79352	.	.	ENSG00000143194	ENST00000367872;ENST00000367870;ENST00000447624;ENST00000537744	T;T;T	0.55588	0.57;0.6;0.51	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000017	T	0.49541	0.1563	L	0.29908	0.895	0.46356	D	0.999008	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.40040	-0.9584	10	0.21014	T	0.42	.	14.9125	0.70770	0.0:1.0:0.0:0.0	.	312;343	E9JVC3;Q96JY0	.;MAEL_HUMAN	E	343;312;312;65	ENSP00000356846:A343E;ENSP00000356844:A312E;ENSP00000402143:A312E	ENSP00000356844:A312E	A	+	2	0	MAEL	165253807	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.056000	0.57448	2.595000	0.87683	0.555000	0.69702	GCA		PASS	0.458	MAEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083239.1	NM_032858		33	96	33	96	---	---	---	---
F5	2153	broad.mit.edu	37	1	169510187	169510187	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:169510187G>T	ENST00000367797.3	-	13	4342	c.4141C>A	c.(4141-4143)Cag>Aag	p.Q1381K	F5_ENST00000367796.3_Missense_Mutation_p.Q1386K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1381	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.Q1381K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGGTTTGTCTGACTGAGTTCT	0.537																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4141-4143)CAG>AAG		coagulation factor V precursor	Drotrecogin alfa(DB00055)						148.0	163.0	158.0					1																	169510187		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510187G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4141C>A	1.37:g.169510187G>T	ENSP00000356771:p.Gln1381Lys						p.Q1381K	NM_000130	NP_000121	P12259	FA5_HUMAN			13	4286	-	all_hematologic(923;0.208)		1381			B.|2-22.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4141C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	N	10.99	1.507384	0.27036	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.33654	1.4;1.4	4.93	0.233	0.15386	.	0.900772	0.09764	N	0.758830	T	0.10551	0.0258	L	0.52905	1.665	0.23893	N	0.99655	B	0.02656	0.0	B	0.04013	0.001	T	0.36504	-0.9745	9	0.02654	T	1	-1.1038	10.0009	0.41929	0.0:0.4162:0.4416:0.1422	.	1381	P12259	FA5_HUMAN	K	1381;1386	ENSP00000356771:Q1381K;ENSP00000356770:Q1386K	ENSP00000356770:Q1386K	Q	-	1	0	F5	167776811	0.003000	0.15002	0.009000	0.14445	0.001000	0.01503	0.632000	0.24583	0.160000	0.19432	-0.175000	0.13238	CAG		PASS	0.537	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		85	128	85	128	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175092777	175092777	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:175092777G>T	ENST00000239462.4	+	12	3005	c.2892G>T	c.(2890-2892)aaG>aaT	p.K964N		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	964	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.K964N(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAGCAAGAAGGCTGACACCA	0.617																																						uc001gkl.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2890-2892)AAG>AAT		tenascin N precursor							71.0	61.0	65.0					1																	175092777		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175092777G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2892G>T	1.37:g.175092777G>T	ENSP00000239462:p.Lys964Asn						p.K964N	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	12	3005	+		Breast(1374;0.000962)	964			Fibronectin type-III 8.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.2892G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.942270	0.34283	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.53857	0.6	5.12	3.09	0.35607	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.152550	0.56097	D	0.000024	T	0.70404	0.3220	M	0.87900	2.915	0.40421	D	0.979845	D	0.60575	0.988	D	0.66979	0.948	T	0.73366	-0.4005	10	0.62326	D	0.03	.	7.9567	0.30047	0.2527:0.0:0.7473:0.0	.	964	Q9UQP3	TENN_HUMAN	N	964;787	ENSP00000239462:K964N	ENSP00000239462:K964N	K	+	3	2	TNN	173359400	0.924000	0.31332	0.974000	0.42286	0.169000	0.22640	0.946000	0.29069	1.177000	0.42855	0.462000	0.41574	AAG		PASS	0.617	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		34	80	34	80	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175355202	175355202	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:175355202G>T	ENST00000367674.2	-	8	2451	c.1743C>A	c.(1741-1743)aaC>aaA	p.N581K	TNR_ENST00000263525.2_Missense_Mutation_p.N581K			Q92752	TENR_HUMAN	tenascin R	581	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.N581N(1)|p.N581K(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AATCGCTCTCGTTGGTCCCTC	0.632																																						uc001gkp.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(1)|kidney(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(1741-1743)AAC>AAA		tenascin R precursor							98.0	90.0	93.0					1																	175355202		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175355202G>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1743C>A	1.37:g.175355202G>T	ENSP00000356646:p.Asn581Lys					TNR_uc009wwu.1_Missense_Mutation_p.N581K	p.N581K	NM_003285	NP_003276	Q92752	TENR_HUMAN			6	1824	-	Renal(580;0.146)		581			Fibronectin type-III 3.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1743C>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	2.414	-0.334619	0.05278	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.56444	0.46;0.46	5.58	-4.09	0.03951	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.102468	0.64402	D	0.000005	T	0.47967	0.1474	N	0.25647	0.755	0.43857	D	0.996452	D	0.69078	0.997	D	0.66716	0.946	T	0.59215	-0.7496	10	0.05833	T	0.94	.	15.0785	0.72096	0.679:0.0:0.321:0.0	.	581	Q92752	TENR_HUMAN	K	581	ENSP00000356646:N581K;ENSP00000263525:N581K	ENSP00000263525:N581K	N	-	3	2	TNR	173621825	0.477000	0.25909	0.935000	0.37517	0.097000	0.18754	-0.267000	0.08619	-0.726000	0.04895	-0.142000	0.14014	AAC		PASS	0.632	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		40	103	40	103	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177250056	177250056	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:177250056C>T	ENST00000361539.4	+	8	2056	c.1744C>T	c.(1744-1746)Ctg>Ttg	p.L582L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	582					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.L582L(1)									GAACAGCACCCTGGAGCCTGT	0.567																																						uc001glf.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1744-1746)CTG>TTG		family with sequence similarity 5, member B							57.0	53.0	54.0					1																	177250056		2203	4300	6503	SO:0001819	synonymous_variant	57795					extracellular region		g.chr1:177250056C>T		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1744C>T	1.37:g.177250056C>T						FAM5B_uc001glg.2_Silent_p.L477L	p.L582L	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	2056	+			582					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	ENST00000361539.4	37	c.1744C>T	CCDS1320.1																																																																																				PASS	0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		13	34	13	34	---	---	---	---
SEC16B	89866	broad.mit.edu	37	1	177913756	177913756	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:177913756C>A	ENST00000308284.6	-	15	1910	c.1821G>T	c.(1819-1821)acG>acT	p.T607T	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	607					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)		p.T608T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGAAGATTTCCGTCCTCTGGA	0.483																																						uc001gli.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(1819-1821)ACG>ACT		leucine zipper transcription regulator 2							149.0	153.0	152.0					1																	177913756		1904	4130	6034	SO:0001819	synonymous_variant	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177913756C>A	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.1821G>T	1.37:g.177913756C>A						SEC16B_uc001glk.1_Silent_p.T284T|SEC16B_uc009wwy.1_Silent_p.T162T|SEC16B_uc001glh.1_Silent_p.T266T|SEC16B_uc009wwz.1_Silent_p.T266T|SEC16B_uc001glj.1_Silent_p.T608T	p.T607T	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			15	1911	-			607					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Silent	SNP	ENST00000308284.6	37	c.1821G>T	CCDS44281.1																																																																																				PASS	0.483	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		59	161	59	161	---	---	---	---
RALGPS2	55103	broad.mit.edu	37	1	178745918	178745918	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:178745918C>A	ENST00000367635.3	+	2	357	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	RALGPS2_ENST00000367634.2_Missense_Mutation_p.Q7K	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	7					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.Q7K(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						AATGAACGGGCAGGCAAGCAG	0.423																																						uc001glz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(19-21)CAG>AAG		Ral GEF with PH domain and SH3 binding motif 2							129.0	105.0	113.0					1																	178745918		2203	4300	6503	SO:0001583	missense	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178745918C>A	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.19C>A	1.37:g.178745918C>A	ENSP00000356607:p.Gln7Lys					RALGPS2_uc001gly.1_Missense_Mutation_p.Q7K|RALGPS2_uc010pnb.1_Missense_Mutation_p.Q7K	p.Q7K	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN			2	357	+			7					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Missense_Mutation	SNP	ENST00000367635.3	37	c.19C>A	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577033	0.86645	.	.	ENSG00000116191	ENST00000367635;ENST00000367634;ENST00000324778	T;T;T	0.21932	2.13;2.14;1.98	5.19	5.19	0.71726	.	0.214785	0.49916	D	0.000126	T	0.13586	0.0329	L	0.34521	1.04	0.58432	D	0.999998	P;P	0.44690	0.841;0.841	B;B	0.33042	0.157;0.157	T	0.08889	-1.0700	10	0.07482	T	0.82	.	17.8495	0.88740	0.0:1.0:0.0:0.0	.	7;7	B7Z7B1;Q86X27	.;RGPS2_HUMAN	K	7	ENSP00000356607:Q7K;ENSP00000356606:Q7K;ENSP00000313613:Q7K	ENSP00000313613:Q7K	Q	+	1	0	RALGPS2	177012541	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	5.482000	0.66833	2.577000	0.86979	0.655000	0.94253	CAG		PASS	0.423	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		14	40	14	40	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	179989082	179989082	+	Splice_Site	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:179989082A>G	ENST00000367607.3	+	12	2592		c.e12-1			NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa						microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.?(2)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTTCATTTCCAGAAAAGACTT	0.358																																						uc001gnt.2																			2	Unknown(2)		lung(2)	ovary(4)	4						c.e12-2		centrosome-associated protein 350							98.0	101.0	100.0					1																	179989082		2203	4300	6503	SO:0001630	splice_region_variant	9857					centrosome|nucleus|spindle		g.chr1:179989082A>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2175-1A>G	1.37:g.179989082A>G						CEP350_uc009wxl.2_Splice_Site_p.R724_splice|CEP350_uc001gnu.2_Splice_Site_p.R559_splice	p.R725_splice	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			12	2558	+								O75068|Q8TDK3|Q8WY20	Splice_Site	SNP	ENST00000367607.3	37	c.2175_splice	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011998	0.54468	.	.	ENSG00000135837	ENST00000367607	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3437	0.66646	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CEP350	178255705	1.000000	0.71417	0.931000	0.37212	0.850000	0.48378	6.415000	0.73328	2.220000	0.72140	0.533000	0.62120	.		PASS	0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	Intron	48	126	48	126	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186331476	186331476	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:186331476T>A	ENST00000367478.4	-	7	1029	c.733A>T	c.(733-735)Aca>Tca	p.T245S	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	245					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|MAPK import into nucleus (GO:0000189)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle assembly checkpoint (GO:0007094)|mRNA export from nucleus in response to heat stress (GO:0031990)|negative regulation of RNA export from nucleus (GO:0046832)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translational initiation (GO:0045947)|nuclear pore organization (GO:0006999)|positive regulation of heterochromatin assembly (GO:0031453)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein import into nucleus (GO:0042307)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|regulation of mitotic sister chromatid separation (GO:0010965)|regulation of spindle assembly involved in mitosis (GO:1901673)|response to epidermal growth factor (GO:0070849)|RNA export from nucleus (GO:0006405)|RNA import into nucleus (GO:0006404)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|extrinsic component of membrane (GO:0019898)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|dynein complex binding (GO:0070840)|heat shock protein binding (GO:0031072)|mitogen-activated protein kinase binding (GO:0051019)|mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)	p.T246S(1)|p.T245S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCATTTGATGTTTTTAAGCCA	0.318			T	NTRK1	papillary thyroid																																	uc001grv.2				Dom	yes		1	1q25	7175	T	translocated promoter region			E	NTRK1		papillary thyroid		2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1)	7						c.(733-735)ACA>TCA		nuclear pore complex-associated protein TPR							169.0	149.0	155.0					1																	186331476		1828	4079	5907	SO:0001583	missense	7175				carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	g.chr1:186331476T>A	U69668	CCDS41446.1	1q25	2012-03-13	2012-03-13		ENSG00000047410	ENSG00000047410			12017	protein-coding gene	gene with protein product		189940	"""translocated promoter region (to activated MET oncogene)"""			1611909, 15229283	Standard	NM_003292		Approved		uc001grv.3	P12270	OTTHUMG00000035580	ENST00000367478.4:c.733A>T	1.37:g.186331476T>A	ENSP00000356448:p.Thr245Ser					TPR_uc010pop.1_Missense_Mutation_p.T321S	p.T245S	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	7	1030	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	245			Potential.		Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.733A>T	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756997	0.31137	.	.	ENSG00000047410	ENST00000367478	T	0.20598	2.06	5.06	2.64	0.31445	.	0.399450	0.26279	N	0.025300	T	0.06781	0.0173	N	0.04203	-0.255	0.24087	N	0.995929	B;B	0.14438	0.002;0.01	B;B	0.11329	0.006;0.004	T	0.31110	-0.9955	10	0.15066	T	0.55	.	1.5826	0.02638	0.2508:0.082:0.1881:0.4791	.	245;245	Q15624;P12270	.;TPR_HUMAN	S	245	ENSP00000356448:T245S	ENSP00000356448:T245S	T	-	1	0	TPR	184598099	0.997000	0.39634	0.996000	0.52242	0.996000	0.88848	0.488000	0.22371	0.304000	0.22809	0.528000	0.53228	ACA		PASS	0.318	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		38	68	38	68	---	---	---	---
BRINP3	339479	broad.mit.edu	37	1	190250791	190250791	+	Missense_Mutation	SNP	C	C	T	rs144952455		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:190250791C>T	ENST00000367462.3	-	3	557	c.326G>A	c.(325-327)cGc>cAc	p.R109H	BRINP3_ENST00000534846.1_Intron|RP11-547I7.1_ENST00000452178.1_RNA	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	109	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.R109H(1)									TCTTATGTTGCGGAAGAATTC	0.448																																						uc001gse.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(325-327)CGC>CAC		family with sequence similarity 5, member C							88.0	83.0	85.0					1																	190250791		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190250791C>T	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.326G>A	1.37:g.190250791C>T	ENSP00000356432:p.Arg109His					FAM5C_uc010pot.1_Intron	p.R109H	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			3	558	-	Prostate(682;0.198)		109					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.326G>A	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.544177	0.86022	.	.	ENSG00000162670	ENST00000367462	D	0.84589	-1.87	5.88	5.88	0.94601	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	N	0.20401	0.57	0.80722	D	1	B	0.21452	0.056	B	0.17433	0.018	T	0.72151	-0.4377	10	0.45353	T	0.12	-6.883	17.7103	0.88319	0.0:1.0:0.0:0.0	.	109	Q76B58	FAM5C_HUMAN	H	109	ENSP00000356432:R109H	ENSP00000356432:R109H	R	-	2	0	FAM5C	188517414	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.271000	0.51608	2.787000	0.95880	0.585000	0.79938	CGC		PASS	0.448	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		46	107	46	107	---	---	---	---
CFHR1	3078	broad.mit.edu	37	1	196797367	196797367	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:196797367C>G	ENST00000320493.5	+	4	686	c.598C>G	c.(598-600)Caa>Gaa	p.Q200E	CFHR2_ENST00000367421.3_Intron|CFHR1_ENST00000367424.4_Intron	NM_002113.2	NP_002104.2	Q03591	FHR1_HUMAN	complement factor H-related 1	200	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Q200E(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						AGAACCACCTCAATGCAAAGG	0.338																																						uc001gtn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)CAA>GAA		complement factor H-related 1 precursor							59.0	90.0	80.0					1																	196797367		1767	4077	5844	SO:0001583	missense	3078				complement activation	extracellular space		g.chr1:196797367C>G	M65292	CCDS1386.1	1q32	2014-09-17	2004-08-09	2006-02-28	ENSG00000244414	ENSG00000244414		"""Complement system"""	4888	protein-coding gene	gene with protein product		134371	"""H factor (complement)-like 1"", ""complement factor H-related 1 pseudogene"", ""H factor (complement)-like 2"""	HFL1, CFHL1, CFHR1P, HFL2, CFHL1P		1711047, 1826708	Standard	NM_002113		Approved	H36-1, FHR1, CFHL, H36-2		Q03591	OTTHUMG00000036276	ENST00000320493.5:c.598C>G	1.37:g.196797367C>G	ENSP00000314299:p.Gln200Glu					CFHR1_uc001gtm.2_Missense_Mutation_p.Q104E	p.Q200E	NM_002113	NP_002104	Q03591	FHR1_HUMAN			4	712	+			200			Sushi 3.		A8K465|Q3B774|Q9UJ17	Missense_Mutation	SNP	ENST00000320493.5	37	c.598C>G	CCDS1386.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.822231	0.00589	.	.	ENSG00000244414	ENST00000320493	T	0.62232	0.04	3.48	0.0392	0.14203	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.39118	0.1066	N	0.17631	0.505	0.09310	N	1	B;B	0.21821	0.013;0.061	B;B	0.25884	0.019;0.064	T	0.27365	-1.0076	9	0.08599	T	0.76	.	5.8497	0.18685	0.4006:0.4184:0.181:0.0	.	200;1101	Q03591;A8K5T0	FHR1_HUMAN;.	E	200	ENSP00000314299:Q200E	ENSP00000314299:Q200E	Q	+	1	0	CFHR1	195063990	0.000000	0.05858	0.089000	0.20774	0.029000	0.11900	-0.781000	0.04648	-0.270000	0.09285	0.398000	0.26397	CAA		PASS	0.338	CFHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088251.2	NM_002113		4	237	4	237	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196887531	196887531	+	Intron	SNP	G	G	T	rs189225757		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:196887531G>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Nonsense_Mutation_p.E331*|CFHR4_ENST00000367416.2_Nonsense_Mutation_p.E577*|CFHR4_ENST00000608469.1_Nonsense_Mutation_p.E201*|CFHR4_ENST00000251424.4_Nonsense_Mutation_p.E331*			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)		p.E577*(1)|p.E331*(1)		large_intestine(2)|ovary(1)|skin(3)	6						CCCCAGATGCGAATAAGGCAG	0.373																																						uc001gto.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)|pancreas(1)|skin(1)	3						c.(991-993)GAA>TAA		complement factor H-related 4 precursor							154.0	155.0	155.0					1																	196887531		2203	4300	6503	SO:0001627	intron_variant	10877					extracellular region	lipid transporter activity	g.chr1:196887531G>T	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.59-31054G>T	1.37:g.196887531G>T						CFHR4_uc009wyy.2_Nonsense_Mutation_p.E577*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.E578*	p.E331*	NM_006684	NP_006675	Q92496	FHR4_HUMAN			6	1060	+			331			Sushi 5.		Q14310|Q5T9T1	Nonsense_Mutation	SNP	ENST00000367421.3	37	c.991G>T		.	.	.	.	.	.	.	.	.	.	G	15.89	2.965622	0.53507	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	.	.	.	3.02	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	6.4947	0.22136	0.1517:0.0:0.8483:0.0	.	.	.	.	X	577;331;331;331	.	ENSP00000251424:E331X	E	+	1	0	CFHR4	195154154	0.038000	0.19896	0.001000	0.08648	0.004000	0.04260	0.388000	0.20735	0.381000	0.24851	-0.441000	0.05720	GAA		PASS	0.373	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		43	142	43	142	---	---	---	---
CFHR5	81494	broad.mit.edu	37	1	196946815	196946815	+	Silent	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:196946815A>T	ENST00000256785.4	+	1	130	c.21A>T	c.(19-21)gtA>gtT	p.V7V	CFHR5_ENST00000367414.5_Silent_p.V31V			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	7					complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.V7V(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TATTCAGTGTAATCCTAATCT	0.353																																						uc001gts.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)|skin(1)	2						c.(19-21)GTA>GTT		complement factor H-related 5 precursor							152.0	147.0	148.0					1																	196946815		2203	4300	6503	SO:0001819	synonymous_variant	81494				complement activation, alternative pathway	extracellular region		g.chr1:196946815A>T	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.21A>T	1.37:g.196946815A>T							p.V7V	NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN			1	149	+			7					Q2NKK2	Silent	SNP	ENST00000256785.4	37	c.21A>T	CCDS1387.1																																																																																				PASS	0.353	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		56	130	56	130	---	---	---	---
ASPM	259266	broad.mit.edu	37	1	197072093	197072093	+	Silent	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:197072093T>A	ENST00000367409.4	-	18	6544	c.6288A>T	c.(6286-6288)acA>acT	p.T2096T	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2096	IQ 16. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.T2096T(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTTTAATTGCTGTCTTCTTCA	0.333																																						uc001gtu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(2)	6						c.(6286-6288)ACA>ACT		asp (abnormal spindle)-like, microcephaly							79.0	88.0	85.0					1																	197072093		2203	4290	6493	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197072093T>A	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6288A>T	1.37:g.197072093T>A						ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Intron	p.T2096T	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			18	6545	-			2096			IQ 16.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.6288A>T	CCDS1389.1																																																																																				PASS	0.333	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		61	155	61	155	---	---	---	---
CRB1	23418	broad.mit.edu	37	1	197390630	197390630	+	Missense_Mutation	SNP	A	A	T	rs115811272		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:197390630A>T	ENST00000367400.3	+	6	1807	c.1672A>T	c.(1672-1674)Att>Ttt	p.I558F	CRB1_ENST00000544212.1_Missense_Mutation_p.I39F|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.I489F|CRB1_ENST00000538660.1_Missense_Mutation_p.I558F|CRB1_ENST00000543483.1_Missense_Mutation_p.I257F|CRB1_ENST00000367399.2_Missense_Mutation_p.I446F	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	558	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I558F(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCTTCTGTTCATTTCCCACAA	0.453													A|||	1	0.000199681	0.0	0.0	5008	,	,		21555	0.001		0.0	False		,,,				2504	0.0					uc001gtz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|large_intestine(1)	9						c.(1672-1674)ATT>TTT		crumbs homolog 1 precursor							125.0	126.0	126.0					1																	197390630		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390630A>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1672A>T	1.37:g.197390630A>T	ENSP00000356370:p.Ile558Phe					CRB1_uc010poz.1_Missense_Mutation_p.I489F|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.I446F|CRB1_uc010ppb.1_Missense_Mutation_p.I558F|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.I39F|CRB1_uc001gub.1_Missense_Mutation_p.I207F	p.I558F	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1807	+			558			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1672A>T	CCDS1390.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	10.56	1.384551	0.25031	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000543483;ENST00000544212;ENST00000367401	T;T;T;T;T;T	0.79454	-1.27;-1.27;-1.27;-1.27;-1.27;-1.27	5.69	-1.15	0.09709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	T	0.81730	0.4884	M	0.83852	2.665	0.21719	N	0.999579	D;D;D;B;D	0.89917	0.999;0.997;0.999;0.102;1.0	D;D;D;B;D	0.87578	0.975;0.932;0.996;0.051;0.998	T	0.67891	-0.5553	9	0.09843	T	0.71	.	0.2157	0.00162	0.3411:0.2358:0.195:0.2281	.	558;489;446;207;558	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	F	489;558;558;446;257;39;207	ENSP00000438786:I489F;ENSP00000438091:I558F;ENSP00000356370:I558F;ENSP00000356369:I446F;ENSP00000439579:I257F;ENSP00000444556:I39F	ENSP00000356369:I446F	I	+	1	0	CRB1	195657253	0.648000	0.27313	0.000000	0.03702	0.003000	0.03518	1.001000	0.29783	-0.471000	0.06891	-0.385000	0.06624	ATT		PASS	0.453	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		55	144	55	144	---	---	---	---
NEK2	4751	broad.mit.edu	37	1	211836894	211836894	+	Silent	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:211836894G>C	ENST00000366999.4	-	8	1350	c.1212C>G	c.(1210-1212)ctC>ctG	p.L404L	NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000540251.1_Silent_p.L361L	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	404	Interaction with PCNT.|Interaction with SAV1 and STK3/MST2.|Necessary for interaction with MAD1L1.				blastocyst development (GO:0001824)|centrosome separation (GO:0051299)|chromosome segregation (GO:0007059)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of centriole-centriole cohesion (GO:1903126)|negative regulation of DNA binding (GO:0043392)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of mitosis (GO:0007088)|regulation of mitotic centrosome separation (GO:0046602)|spindle assembly (GO:0051225)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|microtubule (GO:0005874)|midbody (GO:0030496)|nucleus (GO:0005634)|protein complex (GO:0043234)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)	p.L404L(1)		breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		ACTTAGATGTGAGCTGACTCT	0.423																																						uc001hir.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)|stomach(1)	3						c.(1210-1212)CTC>CTG		NIMA-related kinase 2							50.0	49.0	49.0					1																	211836894		2203	4300	6503	SO:0001819	synonymous_variant	4751				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity	g.chr1:211836894G>C	U11050	CCDS1500.1, CCDS55682.1, CCDS73024.1	1q32.3	2014-06-12	2012-11-15		ENSG00000117650	ENSG00000117650			7745	protein-coding gene	gene with protein product	"""HsPK 21"", ""protein phosphatase 1, regulatory subunit 111"""	604043	"""NIMA (never in mitosis gene a)-related kinase 2"""			8274451, 24043777	Standard	NM_002497		Approved	NLK1, NEK2A, RP67, PPP1R111	uc001hir.2	P51955	OTTHUMG00000037121	ENST00000366999.4:c.1212C>G	1.37:g.211836894G>C						NEK2_uc001hiq.1_Silent_p.L396L	p.L404L	NM_002497	NP_002488	P51955	NEK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)	8	1358	-			404			Necessary for interaction with MAD1L1.|Interaction with SAV1 and STK3.|Interaction with PCNT.		Q53FD6|Q5I1Z9|Q5VXZ1|Q6NZX8|Q7Z634|Q86XH2|Q96QN9	Silent	SNP	ENST00000366999.4	37	c.1212C>G	CCDS1500.1																																																																																				PASS	0.423	NEK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090154.1	NM_002497		36	87	36	87	---	---	---	---
ANGEL2	90806	broad.mit.edu	37	1	213173694	213173694	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:213173694T>C	ENST00000366962.3	-	7	1447	c.1293A>G	c.(1291-1293)caA>caG	p.Q431Q	ANGEL2_ENST00000540642.1_Silent_p.Q305Q|ANGEL2_ENST00000473303.1_5'UTR|ANGEL2_ENST00000535388.1_3'UTR|ANGEL2_ENST00000360506.2_Silent_p.Q262Q|ANGEL2_ENST00000544555.1_Silent_p.Q262Q	NM_144567.3	NP_653168.2	Q5VTE6	ANGE2_HUMAN	angel homolog 2 (Drosophila)	431								p.Q431Q(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		GGACCTCTGTTTGCTTCAGCT	0.338																																						uc001hjz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1291-1293)CAA>CAG		LOC90806 protein							135.0	128.0	130.0					1																	213173694		2203	4300	6503	SO:0001819	synonymous_variant	90806							g.chr1:213173694T>C	AL079275	CCDS1512.1, CCDS73027.1	1q32.3	2014-06-17			ENSG00000174606	ENSG00000174606			30534	protein-coding gene	gene with protein product						11943475	Standard	XM_005273344		Approved	KIAA0759L, FLJ12793, Ccr4d	uc001hjz.3	Q5VTE6	OTTHUMG00000036927	ENST00000366962.3:c.1293A>G	1.37:g.213173694T>C						ANGEL2_uc010pto.1_Silent_p.Q305Q|ANGEL2_uc010ptp.1_Silent_p.Q305Q|ANGEL2_uc001hka.2_Silent_p.Q262Q|ANGEL2_uc010ptq.1_RNA	p.Q431Q	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)	7	1448	-			431					B7Z2U4|D3DTA3|Q86X13|Q8NHH3	Silent	SNP	ENST00000366962.3	37	c.1293A>G	CCDS1512.1																																																																																				PASS	0.338	ANGEL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089693.1	NM_144567		33	94	33	94	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216166490	216166490	+	Missense_Mutation	SNP	C	C	A	rs562492049	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:216166490C>A	ENST00000307340.3	-	35	7063	c.6677G>T	c.(6676-6678)tGc>tTc	p.C2226F	USH2A_ENST00000366943.2_Missense_Mutation_p.C2226F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2226	Fibronectin type-III 8. {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.C2226F(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)		ACTCACTGTGCACCCACCACC	0.478										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(6676-6678)TGC>TTC		usherin isoform B							141.0	125.0	131.0					1																	216166490		2203	4300	6503	SO:0001583	missense	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.chr1:216166490C>A	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.6677G>T	1.37:g.216166490C>A	ENSP00000305941:p.Cys2226Phe	HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2234		p.C2226F	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	35	7064	-			2226			Extracellular (Potential).|Fibronectin type-III 8.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.6677G>T	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372912	0.82573	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53640	0.61;0.61	5.91	5.91	0.95273	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.49305	D	0.000143	T	0.67211	0.2869	L	0.53617	1.68	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.65380	-0.6182	10	0.56958	D	0.05	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	2226	O75445	USH2A_HUMAN	F	2226	ENSP00000305941:C2226F;ENSP00000355910:C2226F	ENSP00000305941:C2226F	C	-	2	0	USH2A	214233113	1.000000	0.71417	0.984000	0.44739	0.827000	0.46813	6.254000	0.72460	2.793000	0.96121	0.655000	0.94253	TGC		PASS	0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		31	100	31	100	---	---	---	---
BPNT1	10380	broad.mit.edu	37	1	220253147	220253147	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:220253147G>A	ENST00000469520.2	-	3	491	c.42C>T	c.(40-42)tcC>tcT	p.S14S	BPNT1_ENST00000544404.1_Intron|BPNT1_ENST00000354807.3_Silent_p.S14S|BPNT1_ENST00000322067.7_Silent_p.S14S|BPNT1_ENST00000414869.2_Silent_p.S14S|BPNT1_ENST00000482136.1_Intron			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	14					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|dephosphorylation (GO:0016311)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|inositol-1,4-bisphosphate 1-phosphatase activity (GO:0004441)|magnesium ion binding (GO:0000287)	p.S14S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TAGAATATGCGGAGGCTACCA	0.418																																						uc001hma.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(40-42)TCC>TCT		3'(2'), 5'-bisphosphate nucleotidase 1							117.0	104.0	108.0					1																	220253147		1917	4122	6039	SO:0001819	synonymous_variant	10380				3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity	g.chr1:220253147G>A	AF125042	CCDS41469.1, CCDS65787.1, CCDS65788.1	1q42	2008-02-05			ENSG00000162813	ENSG00000162813	3.1.3.7		1096	protein-coding gene	gene with protein product		604053				10224133	Standard	XM_005272998		Approved		uc001hma.3	O95861	OTTHUMG00000037435	ENST00000469520.2:c.42C>T	1.37:g.220253147G>A						BPNT1_uc010pug.1_Intron|BPNT1_uc010puh.1_Silent_p.S14S|BPNT1_uc001hmb.3_Silent_p.S14S	p.S14S	NM_006085	NP_006076	O95861	BPNT1_HUMAN		GBM - Glioblastoma multiforme(131;0.0558)	2	214	-			14					A8K7C8|B4DPS5|B4DUS9|D3DTA9|Q8WVL5|Q9UGJ3	Silent	SNP	ENST00000469520.2	37	c.42C>T	CCDS41469.1																																																																																				PASS	0.418	BPNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091137.2	NM_006085		42	83	42	83	---	---	---	---
IARS2	55699	broad.mit.edu	37	1	220310241	220310241	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:220310241T>C	ENST00000302637.5	+	16	2141	c.2037T>C	c.(2035-2037)gtT>gtC	p.V679V	IARS2_ENST00000366922.1_Silent_p.V607V|snoU13_ENST00000459443.1_RNA	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	679					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.V679V(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ATGTTGTCGTTAATGGAGGAC	0.368																																						uc001hmc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(2)	4						c.(2035-2037)GTT>GTC		mitochondrial isoleucine tRNA synthetase	L-Isoleucine(DB00167)						116.0	108.0	111.0					1																	220310241		2203	4300	6503	SO:0001819	synonymous_variant	55699				isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity	g.chr1:220310241T>C	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2037T>C	1.37:g.220310241T>C						IARS2_uc001hmd.2_Silent_p.V15V	p.V679V	NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN		GBM - Glioblastoma multiforme(131;0.0554)	16	2141	+			679					B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	37	c.2037T>C	CCDS1523.1																																																																																				PASS	0.368	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060		26	60	26	60	---	---	---	---
MARK1	4139	broad.mit.edu	37	1	220773197	220773197	+	Missense_Mutation	SNP	C	C	T	rs369087348		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:220773197C>T	ENST00000366917.4	+	5	682	c.416C>T	c.(415-417)gCg>gTg	p.A139V	MARK1_ENST00000402574.1_Missense_Mutation_p.A4V|MARK1_ENST00000366918.4_Intron					MAP/microtubule affinity-regulating kinase 1									p.A139V(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ATGGAATACGCGAGTGGGGGT	0.338																																						uc001hmn.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1)	10						c.(415-417)GCG>GTG		MAP/microtubule affinity-regulating kinase 1		C	VAL/ALA	0,3630		0,0,1815	103.0	106.0	105.0		416	5.3	1.0	1		105	1,8141		0,1,4070	no	missense	MARK1	NM_018650.3	64	0,1,5885	TT,TC,CC		0.0123,0.0,0.0085	probably-damaging	139/796	220773197	1,11771	1815	4071	5886	SO:0001583	missense	4139				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr1:220773197C>T	AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.416C>T	1.37:g.220773197C>T	ENSP00000355884:p.Ala139Val					MARK1_uc009xdw.2_Missense_Mutation_p.A139V|MARK1_uc010pun.1_Missense_Mutation_p.A139V|MARK1_uc001hmm.3_Intron	p.A139V	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN		GBM - Glioblastoma multiforme(131;0.0407)	5	1013	+			139			Protein kinase.			Missense_Mutation	SNP	ENST00000366917.4	37	c.416C>T	CCDS31029.2	.	.	.	.	.	.	.	.	.	.	C	33	5.199292	0.94997	0.0	1.23E-4	ENSG00000116141	ENST00000402574;ENST00000366917	T;T	0.22945	1.93;1.93	5.34	5.34	0.76211	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	0.31670	0.0804	N	0.10645	0.015	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.72338	0.975;0.974;0.977	T	0.34254	-0.9836	10	0.49607	T	0.09	.	16.8864	0.86077	0.0:1.0:0.0:0.0	.	139;4;139	B4DIB3;Q9P0L2-2;Q9P0L2	.;.;MARK1_HUMAN	V	4;139	ENSP00000386017:A4V;ENSP00000355884:A139V	ENSP00000355884:A139V	A	+	2	0	MARK1	218839820	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	6.797000	0.75150	2.660000	0.90430	0.655000	0.94253	GCG		PASS	0.338	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1			5	200	5	200	---	---	---	---
DISP1	84976	broad.mit.edu	37	1	223179195	223179195	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:223179195A>T	ENST00000284476.6	+	8	4620	c.4456A>T	c.(4456-4458)Att>Ttt	p.I1486F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1486					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.I1486F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTGTGGCAGAATTGTGAGAGT	0.403																																						uc001hnu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(4456-4458)ATT>TTT		dispatched A							66.0	63.0	64.0					1																	223179195		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223179195A>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.4456A>T	1.37:g.223179195A>T	ENSP00000284476:p.Ile1486Phe						p.I1486F	NM_032890	NP_116279	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	4603	+			1486					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.4456A>T	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	A	8.353	0.831425	0.16820	.	.	ENSG00000154309	ENST00000284476	D	0.91996	-2.95	5.18	1.01	0.19927	.	0.760289	0.12439	N	0.468867	D	0.84795	0.5551	L	0.27053	0.805	0.09310	N	1	B	0.25169	0.119	B	0.21917	0.037	T	0.74269	-0.3720	10	0.49607	T	0.09	-9.2111	8.548	0.33433	0.6555:0.0:0.3445:0.0	.	1486	Q96F81	DISP1_HUMAN	F	1486	ENSP00000284476:I1486F	ENSP00000284476:I1486F	I	+	1	0	DISP1	221245818	0.748000	0.28294	0.414000	0.26521	0.865000	0.49528	1.062000	0.30555	0.270000	0.21984	0.533000	0.62120	ATT		PASS	0.403	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		50	79	50	79	---	---	---	---
LBR	3930	broad.mit.edu	37	1	225599054	225599054	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:225599054G>A	ENST00000338179.2	-	9	1298	c.1173C>T	c.(1171-1173)ccC>ccT	p.P391P	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Silent_p.P391P	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	391					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.P391P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CAATCAATCCGGGGCGCAATT	0.348																																						uc001hoy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2	GRCh37	CD021830	LBR	D		c.(1171-1173)CCC>CCT		lamin B receptor							117.0	125.0	123.0					1																	225599054		2203	4300	6503	SO:0001819	synonymous_variant	3930				cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity	g.chr1:225599054G>A	L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1173C>T	1.37:g.225599054G>A						LBR_uc001hoz.2_Silent_p.P391P|LBR_uc001hpa.1_Silent_p.P391P	p.P391P	NM_002296	NP_002287	Q14739	LBR_HUMAN		GBM - Glioblastoma multiforme(131;0.117)	9	1316	-	Breast(184;0.165)		391			Helical; (Potential).		B2R5P3|Q14740|Q53GU7|Q59FE6	Silent	SNP	ENST00000338179.2	37	c.1173C>T	CCDS1545.1																																																																																				PASS	0.348	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1	NM_002296		82	151	82	151	---	---	---	---
GNPAT	8443	broad.mit.edu	37	1	231406507	231406507	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:231406507A>C	ENST00000366647.4	+	10	1452	c.1283A>C	c.(1282-1284)aAt>aCt	p.N428T	GNPAT_ENST00000366646.3_Missense_Mutation_p.N367T	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	428					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.N428T(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TGTGTAGATAATAAACCTGCT	0.458																																						uc001hup.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(1282-1284)AAT>ACT		glyceronephosphate O-acyltransferase							130.0	129.0	129.0					1																	231406507		2203	4300	6503	SO:0001583	missense	8443				ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity	g.chr1:231406507A>C	AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1283A>C	1.37:g.231406507A>C	ENSP00000355607:p.Asn428Thr					GNPAT_uc009xfp.2_Missense_Mutation_p.N367T	p.N428T	NM_014236	NP_055051	O15228	GNPAT_HUMAN			10	1489	+	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	428					B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	c.1283A>C	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	A	10.68	1.419492	0.25552	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.65364	-0.15;-0.12;-0.11	4.81	4.81	0.61882	.	0.100759	0.64402	D	0.000003	T	0.64405	0.2595	M	0.77313	2.365	0.53005	D	0.999962	B;B	0.26935	0.164;0.005	B;B	0.27608	0.081;0.007	T	0.66106	-0.6006	10	0.48119	T	0.1	-5.8126	14.5291	0.67912	1.0:0.0:0.0:0.0	.	367;428	B4DNM9;O15228	.;GNPAT_HUMAN	T	428;367;418	ENSP00000355607:N428T;ENSP00000355606:N367T;ENSP00000411640:N418T	ENSP00000355606:N367T	N	+	2	0	GNPAT	229473130	0.997000	0.39634	0.868000	0.34077	0.015000	0.08874	3.539000	0.53604	2.021000	0.59480	0.383000	0.25322	AAT		PASS	0.458	GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1			55	130	55	130	---	---	---	---
PCNXL2	80003	broad.mit.edu	37	1	233394065	233394065	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:233394065C>A	ENST00000258229.9	-	5	1777	c.1543G>T	c.(1543-1545)Gac>Tac	p.D515Y	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	515						integral component of membrane (GO:0016021)		p.D515Y(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GACGATGGGTCAAGGTTAGTC	0.522																																						uc001hvl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1543-1545)GAC>TAC		pecanex-like 2							73.0	75.0	75.0					1																	233394065		2064	4209	6273	SO:0001583	missense	80003					integral to membrane		g.chr1:233394065C>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.1543G>T	1.37:g.233394065C>A	ENSP00000258229:p.Asp515Tyr					PCNXL2_uc009xfu.2_RNA|PCNXL2_uc009xfv.1_RNA	p.D515Y	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			5	1778	-		all_cancers(173;0.0347)|Prostate(94;0.137)	515					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.1543G>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.652471	0.47362	.	.	ENSG00000135749	ENST00000258229	T	0.09538	2.97	5.7	4.78	0.61160	.	.	.	.	.	T	0.15305	0.0369	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	P	0.57548	0.823	T	0.01834	-1.1264	9	0.59425	D	0.04	.	10.1677	0.42890	0.0:0.7914:0.1377:0.0709	.	515	A6NKB5	PCX2_HUMAN	Y	515	ENSP00000258229:D515Y	ENSP00000258229:D515Y	D	-	1	0	PCNXL2	231460688	1.000000	0.71417	0.713000	0.30519	0.168000	0.22595	3.015000	0.49599	1.382000	0.46385	0.655000	0.94253	GAC		PASS	0.522	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		25	70	25	70	---	---	---	---
GPR137B	7107	broad.mit.edu	37	1	236306297	236306297	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:236306297G>T	ENST00000366592.3	+	1	466	c.375G>T	c.(373-375)caG>caT	p.Q125H	GPR137B_ENST00000366591.4_Missense_Mutation_p.Q125H	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	125						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)		p.Q125H(2)		endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			TGTGCCTGCAGTTTTTCACCC	0.602																																						uc001hxq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(373-375)CAG>CAT		G protein-coupled receptor 137B							121.0	114.0	116.0					1																	236306297		2203	4300	6503	SO:0001583	missense	7107					integral to plasma membrane|membrane fraction		g.chr1:236306297G>T	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.375G>T	1.37:g.236306297G>T	ENSP00000355551:p.Gln125His						p.Q125H	NM_003272	NP_003263	O60478	G137B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		1	466	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	125			Helical; (Potential).		Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	ENST00000366592.3	37	c.375G>T	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375405	0.82682	.	.	ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852	T;D	0.91740	1.91;-2.9	4.9	3.97	0.46021	.	0.000000	0.85682	D	0.000000	D	0.95633	0.8580	M	0.81802	2.56	0.54753	D	0.999989	D	0.76494	0.999	D	0.87578	0.998	D	0.95889	0.8905	10	0.72032	D	0.01	-9.0091	13.5905	0.61957	0.077:0.0:0.923:0.0	.	125	O60478	G137B_HUMAN	H	125;125;124	ENSP00000355551:Q125H;ENSP00000355550:Q125H	ENSP00000355550:Q125H	Q	+	3	2	GPR137B	234372920	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.176000	0.65026	2.269000	0.75478	0.555000	0.69702	CAG		PASS	0.602	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		51	123	51	123	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237016389	237016389	+	Splice_Site	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:237016389G>A	ENST00000366577.5	+	18	2347		c.e18+1		MTR_ENST00000535889.1_Splice_Site	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase						cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)	p.?(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTATGCCCAGGTAGAGAGACA	0.403																																						uc001hyi.3																			1	Unknown(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.e18+1		5-methyltetrahydrofolate-homocysteine	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)						106.0	103.0	104.0					1																	237016389		2203	4300	6503	SO:0001630	splice_region_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237016389G>A	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.1953+1G>A	1.37:g.237016389G>A						MTR_uc010pxw.1_Splice_Site_p.Q244_splice|MTR_uc010pxx.1_Splice_Site_p.Q651_splice|MTR_uc010pxy.1_Intron	p.Q651_splice	NM_000254	NP_000245	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	18	2376	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)						A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Splice_Site	SNP	ENST00000366577.5	37	c.1953_splice	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489742	0.84962	.	.	ENSG00000116984	ENST00000366577;ENST00000535889;ENST00000366576	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4318	0.94772	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MTR	235083012	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	9.554000	0.98121	2.830000	0.97506	0.655000	0.94253	.		PASS	0.403	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	Intron	47	111	47	111	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237754047	237754047	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:237754047C>A	ENST00000366574.2	+	31	4232	c.3915C>A	c.(3913-3915)agC>agA	p.S1305R	RYR2_ENST00000360064.6_Missense_Mutation_p.S1303R|RYR2_ENST00000542537.1_Missense_Mutation_p.S1289R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1305	4 X approximate repeats.				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.S1303R(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)			ATCGCCTGAGCATGCCGATCG	0.507																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(3913-3915)AGC>AGA		cardiac muscle ryanodine receptor							213.0	202.0	206.0					1																	237754047		1967	4164	6131	SO:0001583	missense	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.chr1:237754047C>A	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.3915C>A	1.37:g.237754047C>A	ENSP00000355533:p.Ser1305Arg						p.S1305R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		31	4035	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1305			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3915C>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	c	13.07	2.126773	0.37533	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97752	-4.52;-4.5;-4.51	5.03	4.11	0.48088	.	0.000000	0.64402	D	0.000001	D	0.96269	0.8783	M	0.78049	2.395	0.80722	D	1	B	0.22604	0.072	B	0.23018	0.043	D	0.94688	0.7871	10	0.87932	D	0	.	7.7137	0.28692	0.0:0.7294:0.0:0.2706	.	1305	Q92736	RYR2_HUMAN	R	1305;1303;1289	ENSP00000355533:S1305R;ENSP00000353174:S1303R;ENSP00000443798:S1289R	ENSP00000353174:S1303R	S	+	3	2	RYR2	235820670	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	3.134000	0.50538	1.457000	0.47850	0.655000	0.94253	AGC		PASS	0.507	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		98	185	98	185	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237951425	237951425	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:237951425A>T	ENST00000366574.2	+	92	13783	c.13466A>T	c.(13465-13467)cAg>cTg	p.Q4489L	RYR2_ENST00000360064.6_Missense_Mutation_p.Q4495L|RYR2_ENST00000542537.1_Missense_Mutation_p.Q4473L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4489					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.Q4487L(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)			GCATATCAACAGAAACTTCTA	0.393																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(13465-13467)CAG>CTG		cardiac muscle ryanodine receptor							81.0	89.0	86.0					1																	237951425		2055	4221	6276	SO:0001583	missense	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.chr1:237951425A>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.13466A>T	1.37:g.237951425A>T	ENSP00000355533:p.Gln4489Leu						p.Q4489L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		92	13586	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4489					Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.13466A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.633449	0.29068	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93712	-3.27;-3.27;-3.27	4.55	4.55	0.56014	Ryanodine Receptor TM 4-6 (1);	0.112171	0.37955	U	0.001867	D	0.87301	0.6143	L	0.29908	0.895	0.80722	D	1	B	0.25772	0.134	B	0.26202	0.067	T	0.82542	-0.0405	10	0.10636	T	0.68	.	12.7681	0.57403	1.0:0.0:0.0:0.0	.	4489	Q92736	RYR2_HUMAN	L	4489;4495;4473	ENSP00000355533:Q4489L;ENSP00000353174:Q4495L;ENSP00000443798:Q4473L	ENSP00000353174:Q4495L	Q	+	2	0	RYR2	236018048	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	5.223000	0.65283	1.816000	0.52996	0.477000	0.44152	CAG		PASS	0.393	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		13	27	13	27	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240370980	240370980	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:240370980G>T	ENST00000319653.9	+	5	3098	c.2868G>T	c.(2866-2868)ccG>ccT	p.P956P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	956	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.P1099P(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)			TACCCCCTCCGCCCCCTCTTC	0.697																																						uc010pyd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(2866-2868)CCG>CCT		formin 2							20.0	24.0	23.0					1																	240370980		2203	4296	6499	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.chr1:240370980G>T	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.2868G>T	1.37:g.240370980G>T						FMN2_uc010pye.1_Silent_p.P960P	p.P956P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		5	3093	+	Ovarian(103;0.127)	all_cancers(173;0.013)	956			Pro-rich.|FH1.		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	c.2868G>T	CCDS31069.2																																																																																				PASS	0.697	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352		11	19	11	19	---	---	---	---
GREM2	64388	broad.mit.edu	37	1	240656540	240656540	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:240656540C>G	ENST00000318160.4	-	2	502	c.236G>C	c.(235-237)cGg>cCg	p.R79P		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	79	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				BMP signaling pathway (GO:0030509)|cytokine-mediated signaling pathway (GO:0019221)|determination of dorsal identity (GO:0048263)|embryonic body morphogenesis (GO:0010172)|regulation of cytokine activity (GO:0060300)|sequestering of BMP from receptor via BMP binding (GO:0038098)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	heparin binding (GO:0008201)	p.R79P(1)		endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CACCGTCTGCCGCAGCGGCTG	0.642																																						uc001hys.2																			1	Substitution - Missense(1)		lung(1)		0						c.(235-237)CGG>CCG		gremlin 2 precursor							48.0	49.0	49.0					1																	240656540		2203	4300	6503	SO:0001583	missense	64388				BMP signaling pathway	extracellular space	cytokine activity	g.chr1:240656540C>G	AK024848	CCDS31070.1	1q43	2013-02-26	2013-02-26		ENSG00000180875	ENSG00000180875			17655	protein-coding gene	gene with protein product	"""protein related to DAN and cerberus"""	608832	"""gremlin 2, cysteine knot superfamily, homolog (Xenopus laevis)"", ""gremlin 2"""			15039429	Standard	XM_005273226		Approved	Prdc, FLJ21195, CKTSF1B2, DAND3	uc001hys.3	Q9H772	OTTHUMG00000039909	ENST00000318160.4:c.236G>C	1.37:g.240656540C>G	ENSP00000318650:p.Arg79Pro						p.R79P	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0123)		2	516	-		all_cancers(173;0.0196)	79			CTCK.		Q86UD9	Missense_Mutation	SNP	ENST00000318160.4	37	c.236G>C	CCDS31070.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683053	0.88542	.	.	ENSG00000180875	ENST00000318160	T	0.31769	1.48	5.15	5.15	0.70609	DAN (1);Cystine knot, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.51295	0.1666	M	0.72118	2.19	0.80722	D	1	D	0.71674	0.998	D	0.71656	0.974	T	0.48222	-0.9054	10	0.39692	T	0.17	-30.0496	12.0472	0.53487	0.0:0.9206:0.0:0.0794	.	79	Q9H772	GREM2_HUMAN	P	79	ENSP00000318650:R79P	ENSP00000318650:R79P	R	-	2	0	GREM2	238723163	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.982000	0.56909	2.393000	0.81446	0.557000	0.71058	CGG		PASS	0.642	GREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096286.1	NM_022469		6	23	6	23	---	---	---	---
PLD5	200150	broad.mit.edu	37	1	242383334	242383334	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:242383334C>A	ENST00000536534.2	-	5	932	c.691G>T	c.(691-693)Gtg>Ttg	p.V231L	PLD5_ENST00000442594.2_Missense_Mutation_p.V139L|PLD5_ENST00000427495.1_Missense_Mutation_p.V169L			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	231	PLD phosphodiesterase 1.					integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)	p.V139L(1)|p.V231L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CCGATATACACGTGCTGTTTG	0.522																																						uc001hzn.1																			2	Substitution - Missense(2)	p.S231R(1)	lung(2)	ovary(6)	6						c.(691-693)GTG>TTG		RecName: Full=Inactive phospholipase D5;          Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc;							128.0	109.0	115.0					1																	242383334		2203	4300	6503	SO:0001583	missense	200150					integral to membrane	catalytic activity	g.chr1:242383334C>A	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.691G>T	1.37:g.242383334C>A	ENSP00000440896:p.Val231Leu					PLD5_uc001hzl.3_Missense_Mutation_p.V169L|PLD5_uc001hzm.3_Missense_Mutation_p.V21L|PLD5_uc001hzo.1_Missense_Mutation_p.V139L	p.V231L			Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		5	818	-	Melanoma(84;0.242)		231			PLD phosphodiesterase 1.		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	ENST00000536534.2	37	c.691G>T	CCDS1621.2	.	.	.	.	.	.	.	.	.	.	C	11.95	1.791120	0.31685	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534	T;T;T	0.14893	2.47;2.47;2.47	5.52	3.3	0.37823	Phospholipase D/Transphosphatidylase (1);	0.330537	0.31909	N	0.006876	T	0.10508	0.0257	N	0.25485	0.75	0.35579	D	0.80608	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.12837	0.008;0.002;0.005	T	0.17837	-1.0356	10	0.19147	T	0.46	-10.3552	8.384	0.32488	0.0:0.791:0.0:0.209	.	139;231;169	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	L	169;139;231	ENSP00000401285:V169L;ENSP00000414188:V139L;ENSP00000440896:V231L	ENSP00000401285:V169L	V	-	1	0	PLD5	240449957	0.980000	0.34600	0.973000	0.42090	0.944000	0.59088	0.830000	0.27462	1.320000	0.45209	0.655000	0.94253	GTG		PASS	0.522	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		24	58	24	58	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247920944	247920944	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:247920944G>T	ENST00000408896.2	-	1	1038	c.765C>A	c.(763-765)gcC>gcA	p.A255A		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	255					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A255A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGACGGCGATGGCTGTGCCGT	0.522																																						uc010pza.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(763-765)GCC>GCA		olfactory receptor, family 1, subfamily C,							64.0	64.0	64.0					1																	247920944		2058	4218	6276	SO:0001819	synonymous_variant	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920944G>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.765C>A	1.37:g.247920944G>T							p.A255A	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	765	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	255			Helical; Name=6; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Silent	SNP	ENST00000408896.2	37	c.765C>A	CCDS41481.1																																																																																				PASS	0.522	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			20	34	20	34	---	---	---	---
OR2T4	127074	broad.mit.edu	37	1	248525483	248525483	+	Missense_Mutation	SNP	C	C	A	rs554938356	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:248525483C>A	ENST00000366475.1	+	1	601	c.601C>A	c.(601-603)Cgt>Agt	p.R201S		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R201S(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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;0.0265)			CTTCCCCTTCCGTGGATCCCG	0.493																																						uc001ieh.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(601-603)CGT>AGT		olfactory receptor, family 2, subfamily T,							212.0	194.0	200.0					1																	248525483		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525483C>A	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.601C>A	1.37:g.248525483C>A	ENSP00000355431:p.Arg201Ser						p.R201S	NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	601	+	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)		201			Extracellular (Potential).		Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.601C>A	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	10.99	1.508293	0.27036	.	.	ENSG00000196944	ENST00000366475	T	0.00051	8.81	3.61	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000095	T	0.00073	0.0002	N	0.05441	-0.05	0.22366	N	0.999163	B	0.10296	0.003	B	0.04013	0.001	T	0.33189	-0.9878	10	0.87932	D	0	.	8.4931	0.33112	0.0:0.0974:0.0:0.9026	.	201	Q8NH00	OR2T4_HUMAN	S	201	ENSP00000355431:R201S	ENSP00000355431:R201S	R	+	1	0	OR2T4	246592106	0.998000	0.40836	0.101000	0.21167	0.168000	0.22595	3.022000	0.49659	0.291000	0.22468	-0.340000	0.08031	CGT		PASS	0.493	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		63	186	63	186	---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248551514	248551514	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr1:248551514G>A	ENST00000355728.2	+	1	605	c.605G>A	c.(604-606)tGc>tAc	p.C202Y		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C202Y(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	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;0.0265)			ATGTATGTGTGCTGCGTTGCA	0.517																																						uc001iei.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(604-606)TGC>TAC		olfactory receptor, family 2, subfamily T,							276.0	207.0	230.0					1																	248551514		2203	4300	6503	SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551514G>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.605G>A	1.37:g.248551514G>A	ENSP00000347965:p.Cys202Tyr						p.C202Y	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	605	+	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)		202			Extracellular (Potential).		A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	c.605G>A	CCDS31114.1	.	.	.	.	.	.	.	.	.	.	G	7.382	0.629008	0.14257	.	.	ENSG00000198104	ENST00000355728	T	0.00058	8.79	4.13	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000145	T	0.00300	0.0009	L	0.56124	1.755	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.49293	-0.8955	10	0.87932	D	0	.	3.2518	0.06818	0.0965:0.1716:0.5545:0.1774	.	202	Q8NHC8	OR2T6_HUMAN	Y	202	ENSP00000347965:C202Y	ENSP00000347965:C202Y	C	+	2	0	OR2T6	246618137	0.000000	0.05858	0.807000	0.32361	0.009000	0.06853	0.615000	0.24329	2.295000	0.77249	0.643000	0.83706	TGC		PASS	0.517	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		16	50	16	50	---	---	---	---
KCNF1	3754	broad.mit.edu	37	2	11052594	11052594	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:11052594C>G	ENST00000295082.1	+	1	532	c.42C>G	c.(40-42)agC>agG	p.S14R		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	14					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.S14R(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AGCCGGGCAGCCAGAGCTCCG	0.746																																						uc002rax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)AGC>AGG		potassium voltage-gated channel, subfamily F,							7.0	8.0	8.0					2																	11052594		2165	4249	6414	SO:0001583	missense	3754					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr2:11052594C>G	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.42C>G	2.37:g.11052594C>G	ENSP00000295082:p.Ser14Arg						p.S14R	NM_002236	NP_002227	Q9H3M0	KCNF1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)	1	532	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		14			Cytoplasmic (Potential).		O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	37	c.42C>G	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	C	5.014	0.188348	0.09547	.	.	ENSG00000162975	ENST00000295082	D	0.97994	-4.65	4.71	3.56	0.40772	.	.	.	.	.	D	0.91942	0.7448	N	0.22421	0.69	0.32781	N	0.502439	B	0.23650	0.089	B	0.20384	0.029	D	0.87084	0.2168	9	0.13853	T	0.58	.	2.8261	0.05485	0.0:0.4775:0.3052:0.2174	.	14	Q9H3M0	KCNF1_HUMAN	R	14	ENSP00000295082:S14R	ENSP00000295082:S14R	S	+	3	2	KCNF1	10970045	0.940000	0.31905	0.986000	0.45419	0.043000	0.13939	0.937000	0.28951	2.307000	0.77673	0.563000	0.77884	AGC		PASS	0.746	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236		4	4	4	4	---	---	---	---
EMILIN1	11117	broad.mit.edu	37	2	27305106	27305106	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:27305106C>T	ENST00000380320.4	+	4	1166	c.667C>T	c.(667-669)Cag>Tag	p.Q223*		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	223					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)	p.Q223*(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGGAGGCAGCAGCCAGCTGA	0.672																																						uc002rii.3																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(667-669)CAG>TAG		elastin microfibril interfacer 1 precursor							32.0	37.0	35.0					2																	27305106		2203	4299	6502	SO:0001587	stop_gained	11117				cell adhesion	collagen		g.chr2:27305106C>T	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.667C>T	2.37:g.27305106C>T	ENSP00000369677:p.Gln223*					EMILIN1_uc010eyq.1_Nonsense_Mutation_p.Q223*|EMILIN1_uc002rik.3_5'Flank	p.Q223*	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN			4	1095	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		223			Potential.		A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Nonsense_Mutation	SNP	ENST00000380320.4	37	c.667C>T	CCDS1733.1	.	.	.	.	.	.	.	.	.	.	C	39	7.351024	0.98228	.	.	ENSG00000138080	ENST00000380320	.	.	.	5.0	1.69	0.24217	.	0.741018	0.12579	N	0.456563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05959	T	0.93	-16.474	9.2933	0.37800	0.1474:0.5651:0.2876:0.0	.	.	.	.	X	223	.	ENSP00000369677:Q223X	Q	+	1	0	EMILIN1	27158610	0.998000	0.40836	1.000000	0.80357	0.957000	0.61999	2.387000	0.44389	1.056000	0.40484	0.462000	0.41574	CAG		PASS	0.672	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		15	42	15	42	---	---	---	---
PRR30	339779	broad.mit.edu	37	2	27360428	27360428	+	Missense_Mutation	SNP	C	C	A	rs377666702		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:27360428C>A	ENST00000335524.3	-	3	1295	c.770G>T	c.(769-771)cGg>cTg	p.R257L	PREB_ENST00000260643.2_5'Flank|PREB_ENST00000416802.1_5'Flank|PREB_ENST00000406567.3_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		257								p.R257L(1)		cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGCGGGGCCGGAGGCACAC	0.647																																						uc002rjb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)CGG>CTG		hypothetical protein LOC339779							20.0	22.0	21.0					2																	27360428		2076	4133	6209	SO:0001583	missense	339779							g.chr2:27360428C>A																												ENST00000335524.3:c.770G>T	2.37:g.27360428C>A	ENSP00000335017:p.Arg257Leu					PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|PREB_uc002riz.1_5'Flank|PREB_uc002rja.1_5'Flank	p.R257L	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN			3	1350	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		257					Q86UE2	Missense_Mutation	SNP	ENST00000335524.3	37	c.770G>T	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	C	9.309	1.055180	0.19907	.	.	ENSG00000186143	ENST00000335524	T	0.35973	1.28	4.67	-1.61	0.08399	.	0.870792	0.09402	N	0.807083	T	0.31979	0.0814	N	0.24115	0.695	0.09310	N	1	P	0.47841	0.901	P	0.50970	0.655	T	0.34625	-0.9821	10	0.72032	D	0.01	-2.3475	8.4184	0.32685	0.0:0.3317:0.0:0.6683	.	257	Q53SZ7	CB053_HUMAN	L	257	ENSP00000335017:R257L	ENSP00000335017:R257L	R	-	2	0	C2orf53	27213932	0.238000	0.23825	0.151000	0.22473	0.200000	0.23975	-0.465000	0.06680	-0.211000	0.10124	0.561000	0.74099	CGG		PASS	0.647	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1			15	32	15	32	---	---	---	---
TCF23	150921	broad.mit.edu	37	2	27375610	27375610	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:27375610G>A	ENST00000296096.5	+	3	650	c.520G>A	c.(520-522)Gac>Aac	p.D174N		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	174					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)		p.D174N(1)		large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCCGATCTTGACTCCACCAC	0.567																																						uc010ylg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(520-522)GAC>AAC		transcription factor 23							90.0	82.0	85.0					2																	27375610		2203	4300	6503	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27375610G>A	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.520G>A	2.37:g.27375610G>A	ENSP00000296096:p.Asp174Asn						p.D174N	NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN			3	520	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		174					B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.520G>A	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	G	18.50	3.638529	0.67130	.	.	ENSG00000163792	ENST00000296096	D	0.97598	-4.45	5.02	5.02	0.67125	.	0.539019	0.18485	N	0.139818	D	0.95987	0.8693	M	0.67953	2.075	0.34230	D	0.676406	D	0.54047	0.964	B	0.43623	0.425	D	0.98779	1.0731	10	0.48119	T	0.1	-13.4956	14.196	0.65672	0.0:0.0:1.0:0.0	.	174	Q7RTU1	TCF23_HUMAN	N	174	ENSP00000296096:D174N	ENSP00000296096:D174N	D	+	1	0	TCF23	27229114	0.864000	0.29904	0.926000	0.36857	0.714000	0.41099	3.153000	0.50685	2.495000	0.84180	0.655000	0.94253	GAC		PASS	0.567	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		31	63	31	63	---	---	---	---
SLC5A6	8884	broad.mit.edu	37	2	27429763	27429763	+	Silent	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:27429763C>G	ENST00000310574.3	-	4	914	c.441G>C	c.(439-441)gtG>gtC	p.V147V	SLC5A6_ENST00000408041.1_Silent_p.V147V	NM_021095.2	NP_066918.2	Q9Y289	SC5A6_HUMAN	solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6	147					biotin metabolic process (GO:0006768)|biotin transport (GO:0015878)|pantothenate metabolic process (GO:0015939)|pantothenate transmembrane transport (GO:0015887)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.V147V(1)		endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|gabapentin enacarbil(DB08872)|Lipoic Acid(DB00166)	AGATGAAGGTCACAGTTCCAC	0.473																																						uc002rjd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(439-441)GTG>GTC		solute carrier family 5 (sodium-dependent	Biotin(DB00121)|Lipoic Acid(DB00166)						261.0	261.0	261.0					2																	27429763		2203	4300	6503	SO:0001819	synonymous_variant	8884				biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity	g.chr2:27429763C>G	AF069307	CCDS1740.1	2p23	2013-07-19	2013-07-19		ENSG00000138074	ENSG00000138074		"""Solute carriers"""	11041	protein-coding gene	gene with protein product		604024	"""solute carrier family 5 (sodium-dependent vitamin transporter), member 6"""			9516450, 10329687	Standard	NM_021095		Approved	SMVT	uc002rjd.3	Q9Y289	OTTHUMG00000097075	ENST00000310574.3:c.441G>C	2.37:g.27429763C>G						SLC5A6_uc010eyv.1_Silent_p.V147V	p.V147V	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN			4	832	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		147			Helical; (Potential).		B2RB85|D6W549|Q969Y5	Silent	SNP	ENST00000310574.3	37	c.441G>C	CCDS1740.1																																																																																				PASS	0.473	SLC5A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214194.1	NM_021095		148	356	148	356	---	---	---	---
GCKR	2646	broad.mit.edu	37	2	27721620	27721620	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:27721620G>A	ENST00000264717.2	+	5	447	c.384G>A	c.(382-384)ctG>ctA	p.L128L	GCKR_ENST00000424318.2_5'UTR	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	128	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)	p.L128L(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TGAAAGGTCTGGGACAGAAAC	0.393																																						uc002rky.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(382-384)CTG>CTA		glucokinase regulatory protein							119.0	108.0	111.0					2																	27721620		2203	4300	6503	SO:0001819	synonymous_variant	2646				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding	g.chr2:27721620G>A	Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.384G>A	2.37:g.27721620G>A						GCKR_uc010ezd.2_Silent_p.L128L|GCKR_uc010ylu.1_5'UTR	p.L128L	NM_001486	NP_001477	Q14397	GCKR_HUMAN			5	450	+	Acute lymphoblastic leukemia(172;0.155)		128			SIS 1.		A1L4C2|B4DPQ2|Q53RY6|Q99522	Silent	SNP	ENST00000264717.2	37	c.384G>A	CCDS1757.1																																																																																				PASS	0.393	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250214.1	NM_001486		47	72	47	72	---	---	---	---
SLC8A1	6546	broad.mit.edu	37	2	40366621	40366621	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:40366621G>A	ENST00000403092.1	-	10	2498	c.2465C>T	c.(2464-2466)gCt>gTt	p.A822V	SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Missense_Mutation_p.A814V|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1_ENST00000405269.1_Missense_Mutation_p.A786V|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000406785.2_Missense_Mutation_p.A786V|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000405901.3_Missense_Mutation_p.A817V|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1_ENST00000406391.2_Missense_Mutation_p.A786V|SLC8A1_ENST00000542756.1_Missense_Mutation_p.A817V|SLC8A1_ENST00000542024.1_Missense_Mutation_p.A786V|SLC8A1_ENST00000332839.4_Missense_Mutation_p.A822V|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000402441.1_Missense_Mutation_p.A786V|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	822					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.A822V(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AAAGTGGGAAGCCAGGTCTCC	0.493																																						uc002rrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2464-2466)GCT>GTT		solute carrier family 8 (sodium/calcium	Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)						92.0	77.0	82.0					2																	40366621		2203	4300	6503	SO:0001583	missense	6546				cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding	g.chr2:40366621G>A		CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.2465C>T	2.37:g.40366621G>A	ENSP00000384763:p.Ala822Val					uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.A817V|SLC8A1_uc002rrz.2_Missense_Mutation_p.A809V|SLC8A1_uc002rsa.2_Missense_Mutation_p.A786V|SLC8A1_uc002rsd.3_Missense_Mutation_p.A786V	p.A822V	NM_021097	NP_066920	P32418	NAC1_HUMAN			9	2489	-			822			Helical; (Potential).		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	ENST00000403092.1	37	c.2465C>T	CCDS1806.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005506	0.93287	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.06	5.06	0.68205	Sodium/calcium exchanger membrane region (1);	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	M	0.88775	2.98	0.80722	D	1	P;D;D;D	0.89917	0.954;1.0;1.0;1.0	D;D;D;D	0.97110	0.916;0.999;1.0;1.0	D	0.86039	0.1518	10	0.87932	D	0	.	15.9345	0.79691	0.0:0.0:1.0:0.0	.	786;809;817;822	P32418-2;P32418-3;F6VPY9;P32418	.;.;.;NAC1_HUMAN	V	786;822;817;822;817;786;786;822;814;809;786;786	ENSP00000383886:A786V;ENSP00000440727:A817V;ENSP00000384763:A822V;ENSP00000385678:A817V;ENSP00000385188:A786V;ENSP00000385535:A786V;ENSP00000332931:A822V;ENSP00000384908:A814V;ENSP00000385811:A786V;ENSP00000443515:A786V	ENSP00000332931:A822V	A	-	2	0	SLC8A1	40220125	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.731000	0.98807	2.333000	0.79357	0.563000	0.77884	GCT		PASS	0.493	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326065.1	NM_021097		21	51	21	51	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60687767	60687767	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:60687767G>A	ENST00000335712.6	-	4	2507	c.2280C>T	c.(2278-2280)caC>caT	p.H760H	BCL11A_ENST00000356842.4_Intron|BCL11A_ENST00000538214.1_Silent_p.H726H|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Silent_p.H726H|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	760					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)	p.H760H(1)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGCTTCTCCTGTGGACAGTGA	0.562			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(2278-2280)CAC>CAT		B-cell CLL/lymphoma 11A isoform 1							120.0	125.0	123.0					2																	60687767		2203	4300	6503	SO:0001819	synonymous_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60687767G>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.2280C>T	2.37:g.60687767G>A						BCL11A_uc002sab.2_Intron|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Silent_p.H726H|BCL11A_uc002sad.1_Silent_p.H608H|BCL11A_uc002saf.1_Silent_p.H726H	p.H760H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	2508	-			760			C2H2-type 4.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Silent	SNP	ENST00000335712.6	37	c.2280C>T	CCDS1862.1																																																																																				PASS	0.562	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		55	516	55	516	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60688956	60688956	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:60688956T>A	ENST00000335712.6	-	4	1318	c.1091A>T	c.(1090-1092)cAa>cTa	p.Q364L	BCL11A_ENST00000356842.4_Missense_Mutation_p.Q364L|BCL11A_ENST00000538214.1_Missense_Mutation_p.Q330L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.Q330L|BCL11A_ENST00000477659.1_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	364	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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)|transcription corepressor activity (GO:0003714)	p.Q364L(2)		NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGGGGCGGATTGCAGAGGAGG	0.642			T	IGH@	B-CLL																																	uc002sae.1				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		2	Substitution - Missense(2)		lung(2)	central_nervous_system(6)|breast(3)|ovary(2)|skin(2)	13						c.(1090-1092)CAA>CTA		B-cell CLL/lymphoma 11A isoform 1							37.0	46.0	43.0					2																	60688956		2198	4293	6491	SO:0001583	missense	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|cytoplasm|nucleus|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60688956T>A	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.1091A>T	2.37:g.60688956T>A	ENSP00000338774:p.Gln364Leu					BCL11A_uc002sab.2_Missense_Mutation_p.Q364L|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.Q330L|BCL11A_uc002sad.1_Missense_Mutation_p.Q212L|BCL11A_uc002saf.1_Missense_Mutation_p.Q330L	p.Q364L	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1319	-			364			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000335712.6	37	c.1091A>T	CCDS1862.1	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329755	0.24167	.	.	ENSG00000119866	ENST00000356842;ENST00000378117;ENST00000538214;ENST00000335712;ENST00000358510	T;T;T;T	0.08896	3.04;3.35;3.33;3.28	5.74	5.74	0.90152	.	0.135631	0.50627	D	0.000119	T	0.05456	0.0144	N	0.19112	0.55	0.80722	D	1	P;P;B;B	0.46512	0.597;0.879;0.07;0.097	B;B;B;B	0.37047	0.24;0.173;0.024;0.025	T	0.46624	-0.9178	10	0.08837	T	0.75	-1.8843	16.0382	0.80645	0.0:0.0:0.0:1.0	.	330;330;364;364	F5H2Y4;Q9H165-6;Q9H165;D9YZV9	.;.;BC11A_HUMAN;.	L	364;400;330;364;330	ENSP00000349300:Q364L;ENSP00000438303:Q330L;ENSP00000338774:Q364L;ENSP00000351307:Q330L	ENSP00000338774:Q364L	Q	-	2	0	BCL11A	60542460	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	6.288000	0.72679	2.194000	0.70268	0.533000	0.62120	CAA		PASS	0.642	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		23	326	23	326	---	---	---	---
ZNF638	27332	broad.mit.edu	37	2	71576311	71576311	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:71576311A>T	ENST00000409544.1	+	2	857	c.227A>T	c.(226-228)cAc>cTc	p.H76L	ZNF638_ENST00000355812.3_Missense_Mutation_p.H76L|ZNF638_ENST00000377802.2_Missense_Mutation_p.H76L|ZNF638_ENST00000264447.4_Missense_Mutation_p.H76L|ZNF638_ENST00000410075.1_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	76					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.H76L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GTAACTCAACACAGAACTGAT	0.468																																						uc002shx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|skin(1)	4						c.(226-228)CAC>CTC		zinc finger protein 638							117.0	116.0	116.0					2																	71576311		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71576311A>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.227A>T	2.37:g.71576311A>T	ENSP00000386433:p.His76Leu					ZNF638_uc010fec.2_Missense_Mutation_p.H182L|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.2_Missense_Mutation_p.H76L|ZNF638_uc002shy.2_Missense_Mutation_p.H76L|ZNF638_uc002shz.2_Missense_Mutation_p.H76L|ZNF638_uc002sia.2_Missense_Mutation_p.H76L|ZNF638_uc002sib.1_Missense_Mutation_p.H76L	p.H76L	NM_014497	NP_055312	Q14966	ZN638_HUMAN			2	546	+			76					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.227A>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.970779	0.34754	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544;ENST00000437658	T;T;T;T;T;T;T	0.73047	-0.12;-0.71;0.46;-0.12;1.45;1.45;0.92	5.48	4.25	0.50352	.	0.251453	0.39615	N	0.001316	T	0.69024	0.3065	N	0.19112	0.55	0.35497	D	0.799475	D;D;D;D;D	0.76494	0.991;0.984;0.999;0.998;0.991	D;D;D;D;D	0.80764	0.946;0.964;0.994;0.986;0.946	T	0.75519	-0.3289	10	0.72032	D	0.01	-7.2209	5.8463	0.18667	0.6629:0.172:0.0:0.165	.	182;76;76;76;76	F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;ZN638_HUMAN;.	L	76;182;76;76;76;76;76	ENSP00000386669:H76L;ENSP00000438189:H182L;ENSP00000348066:H76L;ENSP00000367033:H76L;ENSP00000264447:H76L;ENSP00000386433:H76L;ENSP00000388164:H76L	ENSP00000264447:H76L	H	+	2	0	ZNF638	71429819	0.998000	0.40836	0.987000	0.45799	0.996000	0.88848	3.303000	0.51858	2.085000	0.62840	0.482000	0.46254	CAC		PASS	0.468	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		63	162	63	162	---	---	---	---
STAMBP	10617	broad.mit.edu	37	2	74089375	74089375	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:74089375G>A	ENST00000394070.2	+	10	1767	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	STAMBP_ENST00000394073.1_Missense_Mutation_p.D422N|STAMBP_ENST00000339566.3_Missense_Mutation_p.D422N|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000409707.1_Missense_Mutation_p.D422N	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	422					JAK-STAT cascade (GO:0007259)|mitotic cytokinesis (GO:0000281)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of cell proliferation (GO:0008284)|protein deubiquitination (GO:0016579)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|ubiquitin-specific protease activity (GO:0004843)	p.D422N(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GACCATCACAGACCTTCGATG	0.423																																						uc002sjs.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)|pancreas(1)	4						c.(1264-1266)GAC>AAC		STAM binding protein							84.0	80.0	81.0					2																	74089375		2203	4300	6503	SO:0001583	missense	10617				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding	g.chr2:74089375G>A	BC007682	CCDS1929.1	2p24.3-p24.1	2008-02-05			ENSG00000124356	ENSG00000124356			16950	protein-coding gene	gene with protein product		606247				10383417	Standard	NM_006463		Approved	AMSH	uc002sjs.3	O95630	OTTHUMG00000129817	ENST00000394070.2:c.1264G>A	2.37:g.74089375G>A	ENSP00000377633:p.Asp422Asn					STAMBP_uc002sjt.2_Missense_Mutation_p.D422N|STAMBP_uc002sju.2_Missense_Mutation_p.D422N|STAMBP_uc002sjv.2_Missense_Mutation_p.D422N	p.D422N	NM_201647	NP_964010	O95630	STABP_HUMAN			10	1314	+			422					B5M0B6|D6W5H7|Q3MJE7	Missense_Mutation	SNP	ENST00000394070.2	37	c.1264G>A	CCDS1929.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424560	0.96111	.	.	ENSG00000124356	ENST00000339566;ENST00000409707;ENST00000394073;ENST00000394070	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.91	5.91	0.95273	.	0.050510	0.85682	N	0.000000	T	0.76111	0.3942	M	0.89840	3.065	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.79701	-0.1693	10	0.66056	D	0.02	-9.6294	19.0726	0.93145	0.0:0.0:1.0:0.0	.	422	O95630	STABP_HUMAN	N	422	ENSP00000344742:D422N;ENSP00000386548:D422N;ENSP00000377636:D422N;ENSP00000377633:D422N	ENSP00000344742:D422N	D	+	1	0	STAMBP	73942883	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.185000	0.65076	2.809000	0.96659	0.555000	0.69702	GAC		PASS	0.423	STAMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252048.2	NM_006463		30	81	30	81	---	---	---	---
SLC4A5	57835	broad.mit.edu	37	2	74460582	74460582	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:74460582T>C	ENST00000377634.4	-	23	2941	c.2542A>G	c.(2542-2544)Atg>Gtg	p.M848V	SLC4A5_ENST00000423644.1_Missense_Mutation_p.M848V|SLC4A5_ENST00000394019.2_Missense_Mutation_p.M848V|SLC4A5_ENST00000346834.4_Missense_Mutation_p.M848V|SLC4A5_ENST00000377632.1_Missense_Mutation_p.M848V|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000359484.4_Missense_Mutation_p.M746V|SLC4A5_ENST00000357822.5_Missense_Mutation_p.M848V|SLC4A5_ENST00000358683.4_Missense_Mutation_p.M746V|SLC4A5_ENST00000483195.1_5'UTR					solute carrier family 4 (sodium bicarbonate cotransporter), member 5									p.M848V(2)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGCTGGTCCATGAAGATCAGG	0.567																																						uc002sko.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	9						c.(2542-2544)ATG>GTG		sodium bicarbonate transporter 4 isoform a							101.0	95.0	97.0					2																	74460582		2203	4300	6503	SO:0001583	missense	57835					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity	g.chr2:74460582T>C	AF243499	CCDS1936.1, CCDS1937.1	2p13.1	2013-07-19	2013-07-19		ENSG00000188687	ENSG00000188687		"""Solute carriers"""	18168	protein-coding gene	gene with protein product		606757	"""solute carrier family 4, sodium bicarbonate cotransporter, member 5"""			10978526, 11087115	Standard	NM_133478		Approved	NBC4	uc002sko.1	Q9BY07	OTTHUMG00000090263	ENST00000377634.4:c.2542A>G	2.37:g.74460582T>C	ENSP00000366861:p.Met848Val					SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.M848V|SLC4A5_uc010ffc.1_Missense_Mutation_p.M848V|SLC4A5_uc002skp.1_Missense_Mutation_p.M746V|SLC4A5_uc002sks.1_Missense_Mutation_p.M810V	p.M848V	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN			18	2544	-			848			Helical; (Potential).			Missense_Mutation	SNP	ENST00000377634.4	37	c.2542A>G	CCDS1936.1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705603	0.68615	.	.	ENSG00000188687	ENST00000394019;ENST00000451608;ENST00000346834;ENST00000359484;ENST00000423644;ENST00000358683;ENST00000357822;ENST00000377632;ENST00000377634;ENST00000425249	T;T;T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.24;-1.46;-1.24;-1.46;-1.46;-1.46;-0.59	4.73	3.56	0.40772	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87892	0.6292	M	0.77820	2.39	0.54753	D	0.999984	D;D;D;D;D	0.76494	0.999;0.991;0.998;0.991;0.998	D;D;D;D;D	0.81914	0.983;0.989;0.995;0.989;0.992	D	0.87649	0.2527	10	0.87932	D	0	.	9.8435	0.41013	0.0:0.0:0.1725:0.8275	.	848;810;746;848;848	Q9BY07-4;E7EQT3;Q9BY07-7;Q9BY07;Q9BY07-3	.;.;.;S4A5_HUMAN;.	V	848;848;848;746;848;746;848;848;848;810	ENSP00000377587:M848V;ENSP00000251768:M848V;ENSP00000352461:M746V;ENSP00000395804:M848V;ENSP00000351513:M746V;ENSP00000350475:M848V;ENSP00000366859:M848V;ENSP00000366861:M848V;ENSP00000405678:M810V	ENSP00000251768:M848V	M	-	1	0	SLC4A5	74314090	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.868000	0.87116	0.827000	0.34685	0.533000	0.62120	ATG		PASS	0.567	SLC4A5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206583.3			24	52	24	52	---	---	---	---
REG3G	130120	broad.mit.edu	37	2	79255402	79255402	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:79255402G>A	ENST00000272324.5	+	6	712	c.528G>A	c.(526-528)taG>taA	p.*176*	REG3G_ENST00000393897.2_Silent_p.*176*|REG3G_ENST00000409471.1_Silent_p.*130*	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	0					acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.*176Y(1)|p.*176*(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAAGGACTAGGGCAGGTGGG	0.478																																						uc002snw.2																			2	Nonstop extension(1)|Substitution - coding silent(1)		large_intestine(1)|lung(1)		0						c.(526-528)TAG>TAA		regenerating islet-derived 3 gamma precursor							86.0	80.0	82.0					2																	79255402		2203	4300	6503	SO:0001819	synonymous_variant	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79255402G>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.528G>A	2.37:g.79255402G>A						REG3G_uc002snx.2_Silent_p.*176*|REG3G_uc010ffu.2_Silent_p.*130*	p.*176*	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN			6	613	+			176					A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Silent	SNP	ENST00000272324.5	37	c.528G>A	CCDS1962.1																																																																																				PASS	0.478	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		28	88	28	88	---	---	---	---
REG1A	5967	broad.mit.edu	37	2	79350055	79350055	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:79350055G>T	ENST00000233735.1	+	5	513	c.410G>T	c.(409-411)tGt>tTt	p.C137F		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	137	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.C137F(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						CCTGGCTACTGTGTGAGCCTG	0.567																																						uc002snz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(409-411)TGT>TTT		regenerating islet-derived 1 alpha precursor							103.0	96.0	99.0					2																	79350055		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79350055G>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.410G>T	2.37:g.79350055G>T	ENSP00000233735:p.Cys137Phe					REG1A_uc010ysd.1_Missense_Mutation_p.C137F	p.C137F	NM_002909	NP_002900	P05451	REG1A_HUMAN			5	513	+			137			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.410G>T	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	g	17.97	3.517888	0.64634	.	.	ENSG00000115386	ENST00000233735	T	0.62105	0.05	3.15	3.15	0.36227	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	0.173798	0.27941	N	0.017239	D	0.85128	0.5626	H	0.98487	4.245	0.47153	D	0.999331	D	0.89917	1.0	D	0.91635	0.999	D	0.88240	0.2909	10	0.87932	D	0	.	9.9324	0.41530	0.0:0.0:1.0:0.0	.	137	P05451	REG1A_HUMAN	F	137	ENSP00000233735:C137F	ENSP00000233735:C137F	C	+	2	0	REG1A	79203563	0.978000	0.34361	0.946000	0.38457	0.429000	0.31625	1.904000	0.39868	1.765000	0.52091	0.557000	0.71058	TGT		PASS	0.567	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		40	109	40	109	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80085257	80085257	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:80085257C>G	ENST00000402739.4	+	3	422	c.417C>G	c.(415-417)atC>atG	p.I139M	CTNNA2_ENST00000361291.4_Missense_Mutation_p.I173M|CTNNA2_ENST00000541047.1_Missense_Mutation_p.I139M|CTNNA2_ENST00000540488.1_Missense_Mutation_p.I139M|CTNNA2_ENST00000466387.1_Missense_Mutation_p.I139M|CTNNA2_ENST00000496558.1_Missense_Mutation_p.I139M	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	139					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)	p.I139M(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTTACTCATCCTGGCGGACA	0.502																																						uc010ysh.1																			2	Substitution - Missense(2)		lung(2)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(415-417)ATC>ATG		catenin, alpha 2 isoform 1							74.0	74.0	74.0					2																	80085257		2051	4191	6242	SO:0001583	missense	1496				axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	g.chr2:80085257C>G		CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.417C>G	2.37:g.80085257C>G	ENSP00000384638:p.Ile139Met					CTNNA2_uc010yse.1_Missense_Mutation_p.I139M|CTNNA2_uc010ysf.1_Missense_Mutation_p.I139M|CTNNA2_uc010ysg.1_Missense_Mutation_p.I139M	p.I139M	NM_004389	NP_004380	P26232	CTNA2_HUMAN			3	422	+			139					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.417C>G		.	.	.	.	.	.	.	.	.	.	C	19.89	3.911646	0.72983	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	5.67	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.60130	0.2245	M	0.75447	2.3	0.58432	D	0.999995	D;D;D	0.67145	0.981;0.996;0.957	D;D;P	0.67382	0.951;0.924;0.883	T	0.63363	-0.6654	10	0.72032	D	0.01	.	11.4728	0.50280	0.0:0.8007:0.0:0.1993	.	139;139;139	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	M	139;139;173;139;139;139	ENSP00000418191:I139M;ENSP00000419295:I139M;ENSP00000355398:I173M;ENSP00000384638:I139M;ENSP00000444675:I139M;ENSP00000441705:I139M	ENSP00000355398:I173M	I	+	3	3	CTNNA2	79938765	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.948000	0.40303	0.741000	0.32674	0.655000	0.94253	ATC		PASS	0.502	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		63	77	63	77	---	---	---	---
RANBP2	5903	broad.mit.edu	37	2	109378557	109378557	+	Splice_Site	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:109378557T>G	ENST00000283195.6	+	19	2729	c.2603T>G	c.(2602-2604)gTt>gGt	p.V868G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	868					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.V868G(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTTTTTTTAGTTGCAACTACT	0.338																																						uc002tem.3																		RANBP2/ALK(16)	2	Substitution - Missense(2)		lung(2)	soft_tissue(16)|lung(1)|pancreas(1)	18						c.(2602-2604)GTT>GGT		RAN binding protein 2							91.0	99.0	96.0					2																	109378557		929	2027	2956	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109378557T>G	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2603-1T>G	2.37:g.109378557T>G							p.V868G	NM_006267	NP_006258	P49792	RBP2_HUMAN			19	2729	+			868					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2603T>G	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410922	0.62399	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.30182	1.54	5.22	5.22	0.72569	.	.	.	.	.	T	0.45337	0.1337	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.26608	-1.0098	8	.	.	.	.	15.3858	0.74699	0.0:0.0:0.0:1.0	.	868	P49792	RBP2_HUMAN	G	868	ENSP00000283195:V868G	.	V	+	2	0	RANBP2	108744989	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.673000	0.68109	2.088000	0.63022	0.455000	0.32223	GTT		PASS	0.338	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Missense_Mutation	69	127	69	127	---	---	---	---
MERTK	10461	broad.mit.edu	37	2	112754908	112754908	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:112754908G>T	ENST00000295408.4	+	10	1716	c.1459G>T	c.(1459-1461)Gat>Tat	p.D487Y	MERTK_ENST00000409780.1_Missense_Mutation_p.D311Y|MERTK_ENST00000421804.2_Missense_Mutation_p.D487Y			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	487					apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D487Y(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGGTTGGGTAGATTATGCCCC	0.428																																						uc002thk.1																			1	Substitution - Missense(1)		lung(1)	lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1)	9						c.(1459-1461)GAT>TAT		MER receptor tyrosine kinase precursor							200.0	200.0	200.0					2																	112754908		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112754908G>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.1459G>T	2.37:g.112754908G>T	ENSP00000295408:p.Asp487Tyr					MERTK_uc002thl.1_Missense_Mutation_p.D311Y	p.D487Y	NM_006343	NP_006334	Q12866	MERTK_HUMAN			10	1581	+			487			Extracellular (Potential).		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.1459G>T	CCDS2094.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.23|15.23	2.771186|2.771186	0.49680|0.49680	.|.	.|.	ENSG00000153208|ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000409780|ENST00000393237	T;T;T|.	0.76316|.	-1.01;-1.01;-0.98|.	5.87|5.87	4.06|4.06	0.47325|0.47325	.|.	0.000000|.	0.34386|.	U|.	0.004008|.	T|T	0.44850|0.44850	0.1313|0.1313	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	1|1	P|.	0.48162|.	0.906|.	B|.	0.41571|.	0.36|.	T|T	0.30119|0.30119	-0.9989|-0.9989	10|6	0.29301|0.19590	T|T	0.29|0.45	-16.1555|-16.1555	8.5779|8.5779	0.33609|0.33609	0.1709:0.0:0.8291:0.0|0.1709:0.0:0.8291:0.0	.|.	487|.	Q12866|.	MERTK_HUMAN|.	Y|I	487;487;311|130	ENSP00000295408:D487Y;ENSP00000389152:D487Y;ENSP00000387277:D311Y|.	ENSP00000295408:D487Y|ENSP00000376929:R130I	D|R	+|+	1|2	0|0	MERTK|MERTK	112471379|112471379	0.647000|0.647000	0.27304|0.27304	0.016000|0.016000	0.15963|0.15963	0.907000|0.907000	0.53573|0.53573	1.785000|1.785000	0.38684|0.38684	1.631000|1.631000	0.50456|0.50456	0.655000|0.655000	0.94253|0.94253	GAT|AGA		PASS	0.428	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			107	306	107	306	---	---	---	---
DPP10	57628	broad.mit.edu	37	2	116538458	116538458	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:116538458C>A	ENST00000410059.1	+	16	1850	c.1370C>A	c.(1369-1371)aCt>aAt	p.T457N	DPP10_ENST00000393147.2_Missense_Mutation_p.T461N|DPP10_ENST00000310323.8_Missense_Mutation_p.T450N|DPP10_ENST00000409163.1_Missense_Mutation_p.T407N	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	457						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.T450N(1)|p.T457N(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGTGCTTCTACTGAAGGATTA	0.308																																						uc002tla.1																			2	Substitution - Missense(2)		lung(2)	ovary(5)|large_intestine(2)|skin(2)|breast(1)	10						c.(1369-1371)ACT>AAT		dipeptidyl peptidase 10 isoform long							112.0	111.0	111.0					2																	116538458		2202	4292	6494	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116538458C>A	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1370C>A	2.37:g.116538458C>A	ENSP00000386565:p.Thr457Asn					DPP10_uc002tlb.1_Missense_Mutation_p.T407N|DPP10_uc002tlc.1_Missense_Mutation_p.T453N|DPP10_uc002tle.2_Missense_Mutation_p.T461N|DPP10_uc002tlf.1_Missense_Mutation_p.T450N	p.T457N	NM_020868	NP_065919	Q8N608	DPP10_HUMAN			16	1827	+			457			Extracellular (Potential).		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1370C>A	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105162	0.77096	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.31510	1.49;1.49;1.49;1.49	5.86	5.86	0.93980	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.057223	0.64402	D	0.000002	T	0.58623	0.2135	M	0.80616	2.505	0.49051	D	0.999749	D;D;D;D	0.69078	0.985;0.997;0.967;0.988	D;D;D;D	0.72625	0.962;0.954;0.964;0.978	T	0.58923	-0.7550	10	0.51188	T	0.08	-12.4251	16.8995	0.86109	0.0:1.0:0.0:0.0	.	450;461;453;457	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	N	457;407;461;450;407	ENSP00000386565:T457N;ENSP00000387038:T407N;ENSP00000376855:T461N;ENSP00000309066:T450N	ENSP00000309066:T450N	T	+	2	0	DPP10	116254928	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.060000	0.64312	2.777000	0.95525	0.655000	0.94253	ACT		PASS	0.308	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		49	150	49	150	---	---	---	---
CNTNAP5	129684	broad.mit.edu	37	2	125405389	125405389	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:125405389G>A	ENST00000431078.1	+	13	2292	c.1928G>A	c.(1927-1929)cGg>cAg	p.R643Q		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	643	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R643Q(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCCGAGTGCGGGGCGCTAAC	0.562																																						uc002tno.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)	10						c.(1927-1929)CGG>CAG		contactin associated protein-like 5 precursor							39.0	42.0	41.0					2																	125405389		2091	4210	6301	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125405389G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1928G>A	2.37:g.125405389G>A	ENSP00000399013:p.Arg643Gln					CNTNAP5_uc010flu.2_Missense_Mutation_p.R644Q	p.R643Q	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	13	2292	+			643			Extracellular (Potential).|Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1928G>A	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	G	3.926	-0.017211	0.07681	.	.	ENSG00000155052	ENST00000431078	T	0.09817	2.94	5.2	-0.793	0.10922	.	0.624103	0.14114	N	0.340507	T	0.03915	0.0110	N	0.02275	-0.615	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43877	-0.9364	10	0.22109	T	0.4	.	10.9712	0.47441	0.6476:0.0:0.3524:0.0	.	643	Q8WYK1	CNTP5_HUMAN	Q	643	ENSP00000399013:R643Q	ENSP00000399013:R643Q	R	+	2	0	CNTNAP5	125121859	0.024000	0.19004	0.000000	0.03702	0.356000	0.29392	0.180000	0.16860	-0.392000	0.07751	0.561000	0.74099	CGG		PASS	0.562	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			3	42	3	42	---	---	---	---
WDR33	55339	broad.mit.edu	37	2	128477651	128477651	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:128477651G>T	ENST00000322313.4	-	16	2106	c.1948C>A	c.(1948-1950)Caa>Aaa	p.Q650K		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	650	Collagen-like.				mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.Q650K(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATGAATCCTTGTGGCCCCCCA	0.652																																						uc002tpg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1948-1950)CAA>AAA		WD repeat domain 33 isoform 1							43.0	46.0	45.0					2																	128477651		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128477651G>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1948C>A	2.37:g.128477651G>T	ENSP00000325377:p.Gln650Lys						p.Q650K	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	16	2131	-	Colorectal(110;0.1)		650			Collagen-like.		Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.1948C>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	17.13	3.309583	0.60414	.	.	ENSG00000136709	ENST00000322313	D	0.88664	-2.41	5.43	5.43	0.79202	.	0.077270	0.56097	D	0.000036	T	0.80053	0.4553	N	0.20845	0.615	0.80722	D	1	B	0.29037	0.231	B	0.24006	0.05	T	0.76865	-0.2801	10	0.05833	T	0.94	-9.5723	19.235	0.93855	0.0:0.0:1.0:0.0	.	650	Q9C0J8	WDR33_HUMAN	K	650	ENSP00000325377:Q650K	ENSP00000325377:Q650K	Q	-	1	0	WDR33	128194121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.287000	0.72671	2.540000	0.85666	0.585000	0.79938	CAA		PASS	0.652	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		21	77	21	77	---	---	---	---
MZT2A	653784	broad.mit.edu	37	2	132241747	132241747	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:132241747C>A	ENST00000309451.6	-	3	409	c.364G>T	c.(364-366)Gcg>Tcg	p.A122S	MZT2A_ENST00000410036.2_5'UTR	NM_001085365.1	NP_001078834.1	Q6P582	MZT2A_HUMAN	mitotic spindle organizing protein 2A	122						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)		p.A122S(1)		breast(1)|lung(1)	2						CTGCGTTCCGCCAGGGCCAAT	0.632																																						uc002tsw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(364-366)GCG>TCG		hypothetical protein LOC653784							51.0	61.0	57.0					2																	132241747		2203	4300	6503	SO:0001583	missense	653784					centrosome|gamma-tubulin ring complex|spindle		g.chr2:132241747C>A	BC018206	CCDS42758.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000173272	ENSG00000173272			33187	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2A"""	613449	"""family with sequence similarity 128, member A"""	FAM128A		20360068	Standard	NM_001085365		Approved	MOZART2A	uc002tsw.4	Q6P582	OTTHUMG00000153606	ENST00000309451.6:c.364G>T	2.37:g.132241747C>A	ENSP00000311500:p.Ala122Ser					FAM128A_uc002tsv.3_RNA	p.A122S	NM_001085365	NP_001078834	Q6P582	MZT2A_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	3	479	-			122					Q3SWV8|Q8WVB2	Missense_Mutation	SNP	ENST00000309451.6	37	c.364G>T	CCDS42758.1	.	.	.	.	.	.	.	.	.	.	c	10.63	1.405310	0.25378	.	.	ENSG00000173272	ENST00000309451	T	0.37235	1.21	2.24	2.24	0.28232	.	0.187873	0.44688	D	0.000429	T	0.29749	0.0743	L	0.54323	1.7	0.27946	N	0.93733	P	0.37781	0.608	B	0.35413	0.202	T	0.16512	-1.0400	10	0.36615	T	0.2	-3.4445	10.1507	0.42791	0.0:1.0:0.0:0.0	.	122	Q6P582	MZT2A_HUMAN	S	122	ENSP00000311500:A122S	ENSP00000311500:A122S	A	-	1	0	MZT2A	131958217	0.961000	0.32948	0.462000	0.27118	0.059000	0.15707	1.760000	0.38430	1.243000	0.43853	0.194000	0.17425	GCG		PASS	0.632	MZT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331811.2			76	87	76	87	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133489393	133489393	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:133489393A>G	ENST00000409261.1	-	17	5733	c.5360T>C	c.(5359-5361)aTt>aCt	p.I1787T	NCKAP5_ENST00000317721.6_Missense_Mutation_p.I1787T|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Missense_Mutation_p.I468T|NCKAP5_ENST00000409213.1_Missense_Mutation_p.I468T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1787								p.I307T(1)|p.I1787T(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GGAATGAACAATGGCGCTATC	0.562																																						uc002ttp.2																			2	Substitution - Missense(2)		lung(2)		0						c.(5359-5361)ATT>ACT		Nck-associated protein 5 isoform 1							81.0	86.0	84.0					2																	133489393		2044	4192	6236	SO:0001583	missense	344148						protein binding	g.chr2:133489393A>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.5360T>C	2.37:g.133489393A>G	ENSP00000387128:p.Ile1787Thr					NCKAP5_uc002ttq.2_Missense_Mutation_p.I468T	p.I1787T	NM_207363	NP_997246	O14513	NCKP5_HUMAN			17	5734	-			1787					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	c.5360T>C	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	A	13.40	2.226416	0.39300	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.55413	2.54;0.52;2.54;0.52	5.2	4.04	0.47022	.	0.248218	0.19399	U	0.115236	T	0.40570	0.1122	L	0.27053	0.805	0.09310	N	1	B;P	0.49783	0.277;0.928	B;B	0.43103	0.079;0.408	T	0.24657	-1.0154	10	0.62326	D	0.03	.	9.7392	0.40406	0.9221:0.0:0.0779:0.0	.	468;1787	O14513-2;O14513	.;NCKP5_HUMAN	T	1787;468;1787;468;468	ENSP00000387128:I1787T;ENSP00000386952:I468T;ENSP00000380603:I1787T;ENSP00000385692:I468T	ENSP00000380603:I1787T	I	-	2	0	NCKAP5	133205863	1.000000	0.71417	0.030000	0.17652	0.136000	0.21042	4.576000	0.60915	1.007000	0.39238	0.533000	0.62120	ATT		PASS	0.562	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		27	111	27	111	---	---	---	---
TMEM163	81615	broad.mit.edu	37	2	135470778	135470778	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:135470778G>A	ENST00000281924.6	-	2	378	c.314C>T	c.(313-315)gCt>gTt	p.A105V		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	105						cell junction (GO:0030054)|early endosome membrane (GO:0031901)|integral component of synaptic vesicle membrane (GO:0030285)	zinc ion binding (GO:0008270)	p.A105V(1)		endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		ACTAAAGGCAGCCACCGCGAG	0.522																																						uc002ttx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)GCT>GTT		transmembrane protein 163							164.0	137.0	146.0					2																	135470778		2203	4300	6503	SO:0001583	missense	81615					integral to membrane		g.chr2:135470778G>A		CCDS2172.1	2q21.3	2008-02-05			ENSG00000152128	ENSG00000152128			25380	protein-coding gene	gene with protein product						17623043	Standard	NM_030923		Approved	DKFZP566N034, SV31	uc002ttx.3	Q8TC26	OTTHUMG00000131713	ENST00000281924.6:c.314C>T	2.37:g.135470778G>A	ENSP00000281924:p.Ala105Val					TMEM163_uc002tty.2_RNA	p.A105V	NM_030923	NP_112185	Q8TC26	TM163_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.154)	2	380	-			105			Helical; (Potential).		Q53QM3|Q53SV7|Q69YH3|Q9UFG3	Missense_Mutation	SNP	ENST00000281924.6	37	c.314C>T	CCDS2172.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.418916	0.42918	.	.	ENSG00000152128	ENST00000281924;ENST00000537539	T	0.62105	0.05	5.11	5.11	0.69529	.	0.054564	0.64402	D	0.000001	T	0.72819	0.3508	L	0.56769	1.78	0.58432	D	0.999999	D	0.71674	0.998	D	0.80764	0.994	T	0.66200	-0.5983	10	0.05525	T	0.97	.	18.7075	0.91644	0.0:0.0:1.0:0.0	.	105	Q8TC26	TM163_HUMAN	V	105;44	ENSP00000281924:A105V	ENSP00000281924:A105V	A	-	2	0	TMEM163	135187248	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.666000	0.83877	2.656000	0.90262	0.591000	0.81541	GCT		PASS	0.522	TMEM163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254631.2	NM_030923		60	111	60	111	---	---	---	---
R3HDM1	23518	broad.mit.edu	37	2	136399333	136399333	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:136399333G>T	ENST00000264160.4	+	15	1817	c.1447G>T	c.(1447-1449)Ggc>Tgc	p.G483C	R3HDM1_ENST00000443537.2_Intron|R3HDM1_ENST00000409478.1_Intron|R3HDM1_ENST00000329971.3_Intron|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G483C|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G427C	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	483							poly(A) RNA binding (GO:0044822)	p.G483C(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CATACCACCTGGCAGTATTCT	0.408																																						uc002tuo.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1447-1449)GGC>TGC		R3H domain containing 1							80.0	76.0	77.0					2																	136399333		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136399333G>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1447G>T	2.37:g.136399333G>T	ENSP00000264160:p.Gly483Cys					R3HDM1_uc010fni.2_Missense_Mutation_p.G481C|R3HDM1_uc002tup.2_Missense_Mutation_p.G427C|R3HDM1_uc010zbh.1_Intron	p.G483C	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	15	1817	+			483					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.1447G>T	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.1|25.1	4.606011|4.606011	0.87157|0.87157	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000264160;ENST00000410054;ENST00000409606|ENST00000429703	T;T;T|.	0.62232|.	0.04;0.04;0.04|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.096256|.	0.64402|.	D|.	0.000001|.	T|T	0.76779|0.76779	0.4035|0.4035	M|M	0.72479|0.72479	2.2|2.2	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.978|.	T|T	0.74925|0.74925	-0.3498|-0.3498	10|5	0.59425|.	D|.	0.04|.	-2.8088|-2.8088	19.8411|19.8411	0.96685|0.96685	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	483;427;483|.	E9PBB4;E9PG42;Q15032|.	.;.;R3HD1_HUMAN|.	C|L	483;427;483|171	ENSP00000264160:G483C;ENSP00000386877:G427C;ENSP00000387010:G483C|.	ENSP00000264160:G483C|.	G|W	+|+	1|2	0|0	R3HDM1|R3HDM1	136115803|136115803	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.750000|9.750000	0.98875|0.98875	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GGC|TGG		PASS	0.408	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1	NM_015361		38	91	38	91	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141771157	141771157	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:141771157C>A	ENST00000389484.3	-	14	3319	c.2348G>T	c.(2347-2349)gGg>gTg	p.G783V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	783					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.G783V(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCTGAAGCCCAAATAGGGG	0.333										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(2347-2349)GGG>GTG		low density lipoprotein-related protein 1B							130.0	125.0	127.0					2																	141771157		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141771157C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.2348G>T	2.37:g.141771157C>A	ENSP00000374135:p.Gly783Val	TSP Lung(27;0.18)				LRP1B_uc010fnl.1_Intron	p.G783V	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	14	3320	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	783			Extracellular (Potential).		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.2348G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364330	0.82463	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92647	-3.08	5.64	5.64	0.86602	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	D	0.92502	0.7619	L	0.51853	1.615	0.80722	D	1	D	0.54047	0.964	P	0.49752	0.621	D	0.91569	0.5270	10	0.39692	T	0.17	.	19.7014	0.96054	0.0:1.0:0.0:0.0	.	783	Q9NZR2	LRP1B_HUMAN	V	783;721	ENSP00000374135:G783V	ENSP00000374135:G783V	G	-	2	0	LRP1B	141487627	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.954000	0.56708	2.660000	0.90430	0.563000	0.77884	GGG		PASS	0.333	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		45	133	45	133	---	---	---	---
ZEB2	9839	broad.mit.edu	37	2	145156420	145156420	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:145156420G>A	ENST00000558170.2	-	8	3518	c.2334C>T	c.(2332-2334)tcC>tcT	p.S778S	ZEB2_ENST00000303660.4_Silent_p.S778S|ZEB2_ENST00000539609.3_Silent_p.S754S|ZEB2_ENST00000409487.3_Silent_p.S778S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	778					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.S778S(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TATTACTCCTGGAGTGGTCCA	0.418																																					Melanoma(33;1235 1264 5755 16332)	uc002tvu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)	9						c.(2332-2334)TCC>TCT		zinc finger homeobox 1b							151.0	160.0	157.0					2																	145156420		2203	4299	6502	SO:0001819	synonymous_variant	9839					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding	g.chr2:145156420G>A	AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2334C>T	2.37:g.145156420G>A						ZEB2_uc002tvv.2_Silent_p.S772S|ZEB2_uc010zbm.1_Silent_p.S749S|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.S807S	p.S778S	NM_014795	NP_055610	O60315	ZEB2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	8	2814	-			778					A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	c.2334C>T	CCDS2186.1																																																																																				PASS	0.418	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795		107	244	107	244	---	---	---	---
SLC4A10	57282	broad.mit.edu	37	2	162661104	162661104	+	Splice_Site	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:162661104T>C	ENST00000446997.1	+	3	369	c.276T>C	c.(274-276)ttT>ttC	p.F92F	SLC4A10_ENST00000415876.2_Splice_Site_p.F92F|SLC4A10_ENST00000535165.1_Splice_Site_p.F92F|SLC4A10_ENST00000375514.5_Splice_Site_p.F103F|SLC4A10_ENST00000421911.1_Splice_Site_p.F92F|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000272716.5_Splice_Site_p.F92F	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	92					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)	p.F92F(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	CACCTTCTTTTGGTAAGAATC	0.343																																						uc002ubx.3																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|lung(2)|pancreas(1)	5						c.(274-276)TTT>TTC		solute carrier family 4, sodium bicarbonate							78.0	84.0	82.0					2																	162661104		1848	4094	5942	SO:0001630	splice_region_variant	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162661104T>C		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.277+1T>C	2.37:g.162661104T>C						SLC4A10_uc010fpa.1_Silent_p.F104F|SLC4A10_uc010zcr.1_RNA|SLC4A10_uc002uby.3_Silent_p.F92F|SLC4A10_uc010zcs.1_Silent_p.F103F	p.F92F	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			3	460	+			92			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Silent	SNP	ENST00000446997.1	37	c.276T>C	CCDS54411.1																																																																																				PASS	0.343	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	Silent	12	42	12	42	---	---	---	---
DPP4	1803	broad.mit.edu	37	2	162851843	162851843	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:162851843C>A	ENST00000360534.3	-	24	2652	c.2092G>T	c.(2092-2094)Gtt>Ttt	p.V698F	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	698					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.V698F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	AGGTACTCAACTTGTTTAAAA	0.343																																						uc002ubz.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2092-2094)GTT>TTT		dipeptidylpeptidase IV	Sitagliptin(DB01261)						134.0	135.0	135.0					2																	162851843		2203	4300	6503	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162851843C>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.2092G>T	2.37:g.162851843C>A	ENSP00000353731:p.Val698Phe					DPP4_uc010fpb.2_Missense_Mutation_p.V374F	p.V698F	NM_001935	NP_001926	P27487	DPP4_HUMAN			24	2653	-			698			Extracellular (Potential).		Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.2092G>T	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023397	0.75390	.	.	ENSG00000197635	ENST00000360534	T	0.31510	1.49	5.74	5.74	0.90152	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65923	0.2738	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71869	-0.4462	10	0.66056	D	0.02	.	19.9248	0.97099	0.0:1.0:0.0:0.0	.	698	P27487	DPP4_HUMAN	F	698	ENSP00000353731:V698F	ENSP00000353731:V698F	V	-	1	0	DPP4	162560089	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.532000	0.67154	2.683000	0.91414	0.655000	0.94253	GTT		PASS	0.343	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			77	110	77	110	---	---	---	---
HOXD4	3233	broad.mit.edu	37	2	177016524	177016524	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:177016524C>A	ENST00000306324.3	+	1	575	c.163C>A	c.(163-165)Ccc>Acc	p.P55T	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	55					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P55T(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CTACCCACGGCCCGACTTCGG	0.741																																						uc002uks.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(163-165)CCC>ACC		homeobox D4							10.0	12.0	12.0					2																	177016524		2159	4244	6403	SO:0001583	missense	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177016524C>A		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.163C>A	2.37:g.177016524C>A	ENSP00000302548:p.Pro55Thr						p.P55T	NM_014621	NP_055436	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	412	+			55					B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	37	c.163C>A	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	C	5.889	0.348151	0.11126	.	.	ENSG00000170166	ENST00000306324	T	0.79033	-1.23	4.31	3.13	0.36017	.	0.229107	0.38548	N	0.001660	T	0.62245	0.2412	L	0.42245	1.32	0.30545	N	0.766073	P	0.36222	0.544	B	0.30943	0.122	T	0.60326	-0.7285	10	0.29301	T	0.29	.	5.7369	0.18071	0.0:0.6764:0.0:0.3236	.	55	P09016	HXD4_HUMAN	T	55	ENSP00000302548:P55T	ENSP00000302548:P55T	P	+	1	0	HOXD4	176724770	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.117000	0.50407	2.078000	0.62432	0.561000	0.74099	CCC		PASS	0.741	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			11	26	11	26	---	---	---	---
TTC30A	92104	broad.mit.edu	37	2	178481726	178481726	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:178481726G>A	ENST00000355689.5	-	1	1968	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	568					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.I568I(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CCAAGCTTTTGATAACTCGAG	0.373																																						uc002ulo.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1702-1704)ATC>ATT		tetratricopeptide repeat domain 30A							147.0	157.0	154.0					2																	178481726		2203	4300	6503	SO:0001819	synonymous_variant	92104				cell projection organization	cilium	binding	g.chr2:178481726G>A	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1704C>T	2.37:g.178481726G>A							p.I568I	NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1969	-			568			TPR 8.		A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	37	c.1704C>T	CCDS2276.1																																																																																				PASS	0.373	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		9	501	9	501	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179497445	179497445	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:179497445C>A	ENST00000591111.1	-	185	38589	c.38365G>T	c.(38365-38367)Gaa>Taa	p.E12789*	TTN_ENST00000342175.6_Nonsense_Mutation_p.E5557*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E11862*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E14430*|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E5490*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5365*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12789	Ig-like 85.				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.E11862*(2)|p.E5557*(1)|p.E5365*(1)|p.E5490*(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)			CTGGATACTTCACACTCAAAC	0.428																																						uc010zfg.1																			5	Substitution - Nonsense(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.(35584-35586)GAA>TAA		titin isoform N2-A							163.0	161.0	162.0					2																	179497445		1908	4120	6028	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179497445C>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.38365G>T	2.37:g.179497445C>A	ENSP00000465570:p.Glu12789*					TTN_uc010zfh.1_Nonsense_Mutation_p.E5557*|TTN_uc010zfi.1_Nonsense_Mutation_p.E5490*|TTN_uc010zfj.1_Nonsense_Mutation_p.E5365*	p.E11862*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		184	35808	-			12789					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.35584G>T		.	.	.	.	.	.	.	.	.	.	C	57	29.411986	0.99975	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	11862;5365;5557;5490;5365	.	ENSP00000340554:E5557X	E	-	1	0	TTN	179205690	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	GAA		PASS	0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		5	359	5	359	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179550314	179550314	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:179550314G>A	ENST00000591111.1	-	126	31596	c.31372C>T	c.(31372-31374)Cct>Tct	p.P10458S	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P9531S|TTN_ENST00000589042.1_Missense_Mutation_p.P10775S|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				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.P9531S(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)			TATTCCTCAGGCTCTTCCATC	0.333																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	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.(28591-28593)CCT>TCT		titin isoform N2-A							111.0	103.0	105.0					2																	179550314		1864	4099	5963	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179550314G>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.31372C>T	2.37:g.179550314G>A	ENSP00000465570:p.Pro10458Ser					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6192S|TTN_uc010fre.1_Intron	p.P9531S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		125	28815	-			10458					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.28591C>T		.	.	.	.	.	.	.	.	.	.	G	12.68	2.009459	0.35415	.	.	ENSG00000155657	ENST00000342992	T	0.63096	-0.02	5.95	5.95	0.96441	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.78000	0.4215	M	0.62088	1.915	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.78585	-0.2147	9	0.87932	D	0	.	18.1662	0.89727	0.0:0.0:1.0:0.0	.	10458	Q8WZ42	TITIN_HUMAN	S	9531	ENSP00000343764:P9531S	ENSP00000343764:P9531S	P	-	1	0	TTN	179258559	1.000000	0.71417	1.000000	0.80357	0.446000	0.32137	2.504000	0.45416	2.824000	0.97209	0.655000	0.94253	CCT		PASS	0.333	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	47	4	47	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179587057	179587057	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:179587057G>C	ENST00000591111.1	-	75	21730	c.21506C>G	c.(21505-21507)tCt>tGt	p.S7169C	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6242C|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S7486C|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12744	Ig-like 53.				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.S6242C(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)			GTACTGGCCAGAGTGACTCAA	0.398																																						uc010zfg.1																			1	Substitution - Missense(1)		lung(1)	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.(18724-18726)TCT>TGT		titin isoform N2-A							51.0	50.0	50.0					2																	179587057		1893	4098	5991	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179587057G>C	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.21506C>G	2.37:g.179587057G>C	ENSP00000465570:p.Ser7169Cys					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S2903C	p.S6242C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		74	18949	-			7169					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.18725C>G		.	.	.	.	.	.	.	.	.	.	G	12.03	1.815466	0.32145	.	.	ENSG00000155657	ENST00000342992	T	0.69806	-0.43	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83986	0.5373	H	0.95187	3.635	0.80722	D	1	D	0.61697	0.99	P	0.50791	0.65	D	0.88007	0.2760	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	7169	Q8WZ42	TITIN_HUMAN	C	6242	ENSP00000343764:S6242C	ENSP00000343764:S6242C	S	-	2	0	TTN	179295302	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.582000	0.60957	2.937000	0.99478	0.650000	0.86243	TCT		PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		15	61	15	61	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179590306	179590306	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:179590306T>C	ENST00000591111.1	-	69	19898	c.19674A>G	c.(19672-19674)gcA>gcG	p.A6558A	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.A5631A|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Silent_p.A6875A|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12161	Ig-like 47.				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.A5631A(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)			CTTCTATGGATGCTTGTAATT	0.423																																						uc010zfg.1																			1	Substitution - coding silent(1)		lung(1)	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.(16891-16893)GCA>GCG		titin isoform N2-A							96.0	88.0	91.0					2																	179590306		1850	4103	5953	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179590306T>C	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.19674A>G	2.37:g.179590306T>C						TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.A2292A	p.A5631A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		68	17117	-			6558					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.16893A>G																																																																																					PASS	0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		26	88	26	88	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179610664	179610664	+	Intron	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:179610664C>T	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.S5488N|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			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)			CATTAAACTGCTTAAAGTCAC	0.408																																						uc002unb.2																			0				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.(16462-16464)AGC>AAC		titin isoform novex-3							105.0	101.0	102.0					2																	179610664		2203	4300	6503	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610664C>T	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.10361-4016G>A	2.37:g.179610664C>T						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron	p.S5488N	NM_133379	NP_596870	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	16687	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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	Missense_Mutation	SNP	ENST00000591111.1	37	c.16463G>A		.	.	.	.	.	.	.	.	.	.	C	12.37	1.918100	0.33815	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.59502	0.26	6.07	6.07	0.98685	.	.	.	.	.	T	0.47600	0.1454	L	0.29908	0.895	0.80722	D	1	B	0.21606	0.058	B	0.27170	0.077	T	0.36866	-0.9730	9	0.39692	T	0.17	.	12.7103	0.57086	0.0:0.9242:0.0:0.0758	.	5488	Q8WZ42-6	.	N	5488;769	ENSP00000354117:S5488N	ENSP00000304714:S769N	S	-	2	0	TTN	179318909	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	3.241000	0.51376	2.884000	0.98904	0.655000	0.94253	AGC		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		63	210	63	210	---	---	---	---
CCDC141	285025	broad.mit.edu	37	2	179734015	179734015	+	Silent	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:179734015A>T	ENST00000420890.2	-	15	2340	c.2223T>A	c.(2221-2223)gtT>gtA	p.V741V	CCDC141_ENST00000295723.5_Silent_p.V166V	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	741								p.V741V(1)|p.V166V(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TAATGTACTGAACCTCATCAT	0.323																																						uc002unf.1																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|pancreas(2)|skin(1)	10						c.(496-498)GTT>GTA		coiled-coil domain containing 141							62.0	57.0	59.0					2																	179734015		2203	4299	6502	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179734015A>T	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2223T>A	2.37:g.179734015A>T							p.V166V	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		5	555	-			166					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.498T>A																																																																																					PASS	0.323	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		25	93	25	93	---	---	---	---
NEUROD1	4760	broad.mit.edu	37	2	182543262	182543262	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:182543262C>A	ENST00000295108.3	-	2	783	c.326G>T	c.(325-327)cGg>cTg	p.R109L	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	109	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|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 regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.R109L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTTCCGCTCCCGGGCGTTAGC	0.542																																						uc002uof.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(325-327)CGG>CTG		neurogenic differentiation 1							93.0	85.0	88.0					2																	182543262		2203	4300	6503	SO:0001583	missense	4760				amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr2:182543262C>A	U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.326G>T	2.37:g.182543262C>A	ENSP00000295108:p.Arg109Leu					CERKL_uc002uod.1_Intron	p.R109L	NM_002500	NP_002491	Q13562	NDF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.088)		2	562	-			109			Basic motif.		B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	ENST00000295108.3	37	c.326G>T	CCDS2283.1	.	.	.	.	.	.	.	.	.	.	C	36	5.673687	0.96754	.	.	ENSG00000162992	ENST00000295108	D	0.98164	-4.76	6.16	6.16	0.99307	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98903	1.0777	10	0.87932	D	0	-20.3837	19.4236	0.94732	0.0:1.0:0.0:0.0	.	109	Q13562	NDF1_HUMAN	L	109	ENSP00000295108:R109L	ENSP00000295108:R109L	R	-	2	0	NEUROD1	182251507	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.093000	0.71422	2.937000	0.99478	0.650000	0.86243	CGG		PASS	0.542	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255792.2	NM_002500		39	51	39	51	---	---	---	---
FRZB	2487	broad.mit.edu	37	2	183731163	183731163	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:183731163T>A	ENST00000295113.4	-	1	727	c.118A>T	c.(118-120)Atc>Ttc	p.I40F		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	40	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.I40F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			CACAGGGGGATGCGGACGGGC	0.677																																						uc002upa.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(118-120)ATC>TTC		frizzled-related protein precursor							50.0	41.0	45.0					2																	183731163		2203	4300	6503	SO:0001583	missense	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183731163T>A	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.118A>T	2.37:g.183731163T>A	ENSP00000295113:p.Ile40Phe						p.I40F	NM_001463	NP_001454	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		1	336	-			40			FZ.		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	c.118A>T	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.279211	0.80692	.	.	ENSG00000162998	ENST00000295113	T	0.80304	-1.36	4.8	4.8	0.61643	Frizzled domain (5);	0.000000	0.85682	D	0.000000	D	0.87621	0.6223	M	0.79123	2.44	0.80722	D	1	D	0.64830	0.994	D	0.65443	0.935	D	0.87676	0.2544	10	0.46703	T	0.11	.	11.2257	0.48882	0.0:0.0:0.1532:0.8468	.	40	Q92765	SFRP3_HUMAN	F	40	ENSP00000295113:I40F	ENSP00000295113:I40F	I	-	1	0	FRZB	183439408	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.995000	0.57001	2.017000	0.59298	0.402000	0.26972	ATC		PASS	0.677	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463		28	15	28	15	---	---	---	---
COL5A2	1290	broad.mit.edu	37	2	189953453	189953453	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:189953453C>T	ENST00000374866.3	-	8	887	c.613G>A	c.(613-615)Ggg>Agg	p.G205R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	205					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)	p.G205W(1)|p.G205R(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACTTGACTCCCAAGTCCAGAT	0.358																																						uc002uqk.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(613-615)GGG>AGG		alpha 2 type V collagen preproprotein							119.0	116.0	117.0					2																	189953453		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189953453C>T	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.613G>A	2.37:g.189953453C>T	ENSP00000364000:p.Gly205Arg					COL5A2_uc010frx.2_5'Flank	p.G205R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		8	888	-			205					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.613G>A	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362078	0.82353	.	.	ENSG00000204262	ENST00000374866	D	0.94280	-3.39	6.07	6.07	0.98685	.	0.000000	0.53938	D	0.000049	D	0.96185	0.8756	M	0.67397	2.05	0.45216	D	0.998228	D	0.89917	1.0	D	0.85130	0.997	D	0.95244	0.8354	9	.	.	.	.	17.5761	0.87949	0.0:1.0:0.0:0.0	.	205	P05997	CO5A2_HUMAN	R	205	ENSP00000364000:G205R	.	G	-	1	0	COL5A2	189661698	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.247000	0.51422	2.885000	0.99019	0.655000	0.94253	GGG		PASS	0.358	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393		40	67	40	67	---	---	---	---
STAT1	6772	broad.mit.edu	37	2	191848427	191848427	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:191848427G>C	ENST00000361099.3	-	17	1774	c.1387C>G	c.(1387-1389)Cag>Gag	p.Q463E	STAT1_ENST00000392322.3_Missense_Mutation_p.Q463E|STAT1_ENST00000392323.2_Missense_Mutation_p.Q465E|STAT1_ENST00000409465.1_Missense_Mutation_p.Q463E|STAT1_ENST00000540176.1_3'UTR	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	463			Q -> H (in IMD31A; affects the DNA- binding activity of the protein). {ECO:0000269|PubMed:16934001}.		apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)	p.Q463E(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CTCGGGAGCTGGCTGACGTTG	0.502																																						uc002usj.2																			1	Substitution - Missense(1)		lung(1)	lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(1387-1389)CAG>GAG		signal transducer and activator of transcription	Fludarabine(DB01073)						106.0	100.0	102.0					2																	191848427		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191848427G>C		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1387C>G	2.37:g.191848427G>C	ENSP00000354394:p.Gln463Glu					STAT1_uc010fse.1_Missense_Mutation_p.Q463E|STAT1_uc002usk.2_Missense_Mutation_p.Q463E|STAT1_uc002usl.2_Missense_Mutation_p.Q465E|STAT1_uc010fsf.1_Missense_Mutation_p.Q275E	p.Q463E	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		17	1775	-			463					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.1387C>G	CCDS2309.1	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991410	0.93106	.	.	ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323	D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05	5.19	5.19	0.71726	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.053026	0.85682	D	0.000000	D	0.96642	0.8904	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.81914	0.863;0.995	D	0.96831	0.9611	10	0.87932	D	0	-29.428	19.2755	0.94030	0.0:0.0:1.0:0.0	.	463;463	P42224-2;P42224	.;STAT1_HUMAN	E	463;463;463;465	ENSP00000354394:Q463E;ENSP00000386244:Q463E;ENSP00000376136:Q463E;ENSP00000376137:Q465E	ENSP00000354394:Q463E	Q	-	1	0	STAT1	191556672	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.601000	0.98297	2.865000	0.98341	0.655000	0.94253	CAG		PASS	0.502	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		5	85	5	85	---	---	---	---
IHH	3549	broad.mit.edu	37	2	219920115	219920115	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:219920115G>A	ENST00000295731.6	-	3	1049	c.1050C>T	c.(1048-1050)gcC>gcT	p.A350A		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	350					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)	p.A350A(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCAGCCACGGCCGCGAAGC	0.642																																						uc002vjo.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1048-1050)GCC>GCT		Indian hedgehog homolog precursor							34.0	33.0	33.0					2																	219920115		2203	4300	6503	SO:0001819	synonymous_variant	3549				cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity	g.chr2:219920115G>A	L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.1050C>T	2.37:g.219920115G>A							p.A350A	NM_002181	NP_002172	Q14623	IHH_HUMAN		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	3	1050	-		Renal(207;0.0915)	350					B9EGM5|O43322|Q8N4B9	Silent	SNP	ENST00000295731.6	37	c.1050C>T	CCDS33380.1																																																																																				PASS	0.642	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336408.2	NM_002181		13	13	13	13	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228881146	228881146	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:228881146G>A	ENST00000392056.3	-	7	4470	c.4424C>T	c.(4423-4425)gCc>gTc	p.A1475V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A1475V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1475						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.A1475V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCGCTCACGGCTGTGTCTCC	0.468																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(4423-4425)GCC>GTC		sphingosine kinase type 1-interacting protein							147.0	147.0	147.0					2																	228881146		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881146G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4424C>T	2.37:g.228881146G>A	ENSP00000375909:p.Ala1475Val					SPHKAP_uc002vpp.2_Missense_Mutation_p.A1475V|SPHKAP_uc010zlx.1_Missense_Mutation_p.A1475V	p.A1475V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4471	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1475					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4424C>T	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	9.241	1.038171	0.19669	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.12672	2.66;2.67	5.0	0.851	0.18989	.	0.886142	0.09903	N	0.740806	T	0.15435	0.0372	M	0.75447	2.3	0.09310	N	1	B;P;B	0.47106	0.008;0.89;0.024	B;B;B	0.38378	0.008;0.272;0.048	T	0.16778	-1.0391	10	0.46703	T	0.11	.	7.3916	0.26913	0.0885:0.0:0.2669:0.6446	.	506;1475;1475	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	V	1475	ENSP00000375909:A1475V;ENSP00000339886:A1475V	ENSP00000339886:A1475V	A	-	2	0	SPHKAP	228589390	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.261000	0.18442	-0.033000	0.13736	-0.310000	0.09108	GCC		PASS	0.468	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		75	101	75	101	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228881548	228881548	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:228881548G>C	ENST00000392056.3	-	7	4068	c.4022C>G	c.(4021-4023)cCc>cGc	p.P1341R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1341R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1341						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.P1341R(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TGCTTGCGAGGGAGAGCCACC	0.522																																						uc002vpq.2																			2	Substitution - Missense(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(4021-4023)CCC>CGC		sphingosine kinase type 1-interacting protein							99.0	86.0	91.0					2																	228881548		2203	4300	6503	SO:0001583	missense	80309					cytoplasm	protein binding	g.chr2:228881548G>C		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4022C>G	2.37:g.228881548G>C	ENSP00000375909:p.Pro1341Arg					SPHKAP_uc002vpp.2_Missense_Mutation_p.P1341R|SPHKAP_uc010zlx.1_Missense_Mutation_p.P1341R	p.P1341R	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	7	4069	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	1341					Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	c.4022C>G	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.218661	0.39201	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11169	2.81;2.8	5.92	2.14	0.27477	.	0.518582	0.23502	N	0.047487	T	0.14313	0.0346	L	0.53249	1.67	0.09310	N	1	P;P;D	0.54964	0.71;0.779;0.969	B;B;P	0.51385	0.303;0.317;0.668	T	0.11299	-1.0593	10	0.25751	T	0.34	.	6.9373	0.24472	0.2083:0.1272:0.6645:0.0	.	372;1341;1341	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	R	1341	ENSP00000375909:P1341R;ENSP00000339886:P1341R	ENSP00000339886:P1341R	P	-	2	0	SPHKAP	228589792	0.094000	0.21725	0.000000	0.03702	0.003000	0.03518	2.095000	0.41729	0.404000	0.25506	0.655000	0.94253	CCC		PASS	0.522	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		23	28	23	28	---	---	---	---
LRRFIP1	9208	broad.mit.edu	37	2	238672186	238672186	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:238672186G>A	ENST00000392000.4	+	11	1947	c.1830G>A	c.(1828-1830)caG>caA	p.Q610Q	LRRFIP1_ENST00000244815.5_Silent_p.Q586Q|LRRFIP1_ENST00000289175.6_Silent_p.Q554Q|LRRFIP1_ENST00000308482.9_Intron	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	610					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)	p.Q586Q(1)|p.Q610Q(1)		NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AAGAAGAGCAGGTAAAGTCTA	0.373																																						uc002vxe.2																			2	Substitution - coding silent(2)		lung(2)	breast(3)	3						c.(1828-1830)CAG>CAA		leucine rich repeat (in FLII) interacting							49.0	52.0	51.0					2																	238672186		2203	4298	6501	SO:0001819	synonymous_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238672186G>A	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.1830G>A	2.37:g.238672186G>A						LRRFIP1_uc002vxc.2_Intron|LRRFIP1_uc010znm.1_Intron|LRRFIP1_uc002vxd.2_Silent_p.Q586Q|LRRFIP1_uc002vxf.2_Silent_p.Q554Q	p.Q610Q	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	11	2122	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	610					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Silent	SNP	ENST00000392000.4	37	c.1830G>A	CCDS46552.1																																																																																				PASS	0.373	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		21	9	21	9	---	---	---	---
TRAF3IP1	26146	broad.mit.edu	37	2	239261531	239261531	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:239261531G>A	ENST00000373327.4	+	13	1737	c.1515G>A	c.(1513-1515)gaG>gaA	p.E505E	TRAF3IP1_ENST00000391993.3_Silent_p.E439E|TRAF3IP1_ENST00000391994.2_Silent_p.E505E	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	505	DISC1-interaction domain.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.E505E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		ACAATGAAGAGGATGATCAAT	0.328																																						uc002vye.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1513-1515)GAG>GAA		TNF receptor-associated factor 3 interacting							73.0	71.0	71.0					2																	239261531		2203	4300	6503	SO:0001819	synonymous_variant	26146					cytoplasm|cytoskeleton	protein binding	g.chr2:239261531G>A	AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.1515G>A	2.37:g.239261531G>A						TRAF3IP1_uc002vyf.2_Silent_p.E439E	p.E505E	NM_015650	NP_056465	Q8TDR0	MIPT3_HUMAN		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)	13	1634	+		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)	505			DISC1-interaction domain.		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Silent	SNP	ENST00000373327.4	37	c.1515G>A	CCDS33415.1																																																																																				PASS	0.328	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000328312.1	NM_015650		26	62	26	62	---	---	---	---
MYEOV2	150678	broad.mit.edu	37	2	241066112	241066112	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr2:241066112C>A	ENST00000307266.3	-	5	626	c.627G>T	c.(625-627)gaG>gaT	p.E209D		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0								p.E209D(1)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CTTCGCTGACCTCTCGCCTGC	0.468																																						uc002vyu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(625-627)GAG>GAT		hypothetical protein LOC150678 isoform 1							250.0	206.0	221.0					2																	241066112		2203	4300	6503	SO:0001583	missense	150678							g.chr2:241066112C>A	AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.627G>T	2.37:g.241066112C>A	ENSP00000304147:p.Glu209Asp						p.E209D	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)	5	627	-		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)	Error:Variant_position_missing_in_Q8WXC6_after_alignment					Q8N110	Missense_Mutation	SNP	ENST00000307266.3	37	c.627G>T	CCDS2532.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.270463	0.00021	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.53	-3.06	0.05379	.	.	.	.	.	T	0.27241	0.0668	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18272	-1.0342	7	0.87932	D	0	.	1.0325	0.01541	0.3395:0.2793:0.2438:0.1375	.	209	Q8WXC6-1	.	D	209	.	ENSP00000304147:E209D	E	-	3	2	MYEOV2	240714785	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.055000	0.01397	-4.425000	0.00050	-3.693000	0.00024	GAG		PASS	0.468	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257182.2	NM_138336		98	58	98	58	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9482323	9482323	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:9482323G>A	ENST00000406341.1	+	7	941	c.751G>A	c.(751-753)Gac>Aac	p.D251N	SETD5_ENST00000407969.1_Missense_Mutation_p.D270N|SETD5_ENST00000402198.1_Missense_Mutation_p.D251N|SETD5_ENST00000302463.6_Missense_Mutation_p.D153N|SETD5_ENST00000402466.1_Missense_Mutation_p.D153N			Q9C0A6	SETD5_HUMAN	SET domain containing 5	251								p.D251N(1)|p.D153N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TACTATTTTAGACACTATTAA	0.398																																						uc003brt.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(751-753)GAC>AAC		SET domain containing 5							75.0	71.0	72.0					3																	9482323		1867	4105	5972	SO:0001583	missense	55209							g.chr3:9482323G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.751G>A	3.37:g.9482323G>A	ENSP00000383939:p.Asp251Asn					SETD5_uc003brs.1_Missense_Mutation_p.D232N|SETD5_uc003bru.2_Missense_Mutation_p.D153N|SETD5_uc003brv.2_Missense_Mutation_p.D140N|SETD5_uc010hck.2_5'Flank|SETD5_uc003brw.1_5'Flank|SETD5_uc003brx.2_5'Flank	p.D251N	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	8	1186	+	Medulloblastoma(99;0.227)		251					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.751G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.304971	0.81247	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.92199	-2.65;-2.99;-2.65;-2.64;0.79;-2.99	5.33	5.33	0.75918	.	0.058725	0.64402	D	0.000003	D	0.86785	0.6016	N	0.14661	0.345	0.46749	D	0.999184	B;B;B	0.31227	0.314;0.307;0.059	B;B;B	0.33196	0.159;0.102;0.068	D	0.84549	0.0643	10	0.40728	T	0.16	-4.7543	19.4544	0.94882	0.0:0.0:1.0:0.0	.	153;251;270	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	N	251;153;251;270;140;153	ENSP00000385852:D251N;ENSP00000384429:D153N;ENSP00000383939:D251N;ENSP00000384114:D270N;ENSP00000408837:D140N;ENSP00000302028:D153N	ENSP00000302028:D153N	D	+	1	0	SETD5	9457323	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.314000	0.72848	2.693000	0.91896	0.650000	0.86243	GAC		PASS	0.398	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		24	22	24	22	---	---	---	---
GRIP2	80852	broad.mit.edu	37	3	14581778	14581778	+	RNA	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:14581778G>T	ENST00000273083.3	-	0	103							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)		p.A13E(1)		endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTACGTACCCGCCTCTCCAGG	0.637																																						uc011avi.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(328-330)GCG>GAG		glutamate receptor interacting protein 2							40.0	46.0	44.0					3																	14581778		1977	4148	6125			80852				synaptic transmission	cytosol|plasma membrane	protein binding	g.chr3:14581778G>T	AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14581778G>T						GRIP2_uc011avh.1_5'UTR|GRIP2_uc003byv.1_Missense_Mutation_p.A13E	p.A110E	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN			2	329	-			13					Q8TEH9|Q9H7H3	Missense_Mutation	SNP	ENST00000273083.3	37	c.329C>A																																																																																					PASS	0.637	GRIP2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000340582.2	NM_001080423		10	9	10	9	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38889189	38889189	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:38889189G>A	ENST00000302328.3	-	26	4570	c.4372C>T	c.(4372-4374)Cct>Tct	p.P1458S	SCN11A_ENST00000450244.1_Missense_Mutation_p.P1458S|SCN11A_ENST00000456224.3_Missense_Mutation_p.P1420S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1458					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.P1458S(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGCGTCGGAGGGAAAGGAATG	0.493																																						uc011ays.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4372-4374)CCT>TCT		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						38.0	42.0	41.0					3																	38889189		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38889189G>A	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.4372C>T	3.37:g.38889189G>A	ENSP00000307599:p.Pro1458Ser						p.P1458S	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	4571	-			1458			IV.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4372C>T	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	G	9.685	1.150382	0.21371	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.95171	-3.63;-3.63;-3.58	5.83	5.83	0.93111	Ion transport (1);	0.055228	0.85682	D	0.000000	T	0.75961	0.3921	N	0.00162	-1.95	0.41246	D	0.98667	P	0.42296	0.775	B	0.39660	0.306	D	0.84483	0.0606	10	0.02654	T	1	.	13.7516	0.62910	0.0788:0.0:0.9212:0.0	.	1458	Q9UI33	SCNBA_HUMAN	S	1458;1458;1420	ENSP00000307599:P1458S;ENSP00000400945:P1458S;ENSP00000416757:P1420S	ENSP00000307599:P1458S	P	-	1	0	SCN11A	38864193	1.000000	0.71417	0.999000	0.59377	0.924000	0.55760	3.599000	0.54045	2.759000	0.94783	0.650000	0.86243	CCT		PASS	0.493	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		21	25	21	25	---	---	---	---
ZNF35	7584	broad.mit.edu	37	3	44700479	44700479	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:44700479C>T	ENST00000396056.2	+	4	859	c.624C>T	c.(622-624)ggC>ggT	p.G208G	ZNF35_ENST00000542250.1_Silent_p.G48G|ZNF35_ENST00000296092.3_3'UTR|RP11-944L7.4_ENST00000457331.1_RNA	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	208	Globular domain.				cellular response to retinoic acid (GO:0071300)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cell (GO:0005623)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G208G(1)		large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		TTAATTCTGGCGCTGTTAAAA	0.413																																						uc003cnq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(622-624)GGC>GGT		zinc finger protein 35							74.0	77.0	76.0					3																	44700479		2203	4300	6503	SO:0001819	synonymous_variant	7584				cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44700479C>T	X07289	CCDS2718.2	3p21.32	2013-01-08	2006-05-11		ENSG00000169981	ENSG00000169981		"""Zinc fingers, C2H2-type"""	13099	protein-coding gene	gene with protein product		194533	"""zinc finger protein 35 (clone HF.10)"""			2108922, 1572646	Standard	NM_003420		Approved	HF.10, HF10, Zfp105	uc003cnq.3	P13682	OTTHUMG00000133091	ENST00000396056.2:c.624C>T	3.37:g.44700479C>T						ZNF35_uc003cnr.2_Silent_p.G48G	p.G208G	NM_003420	NP_003411	P13682	ZNF35_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	4	845	+		Ovarian(412;0.0228)	208			Globular domain.		B2RBU6|Q53Y54|Q96D01	Silent	SNP	ENST00000396056.2	37	c.624C>T	CCDS2718.2																																																																																				PASS	0.413	ZNF35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256749.4	NM_003420		4	117	4	117	---	---	---	---
LTF	4057	broad.mit.edu	37	3	46480790	46480790	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:46480790T>C	ENST00000231751.4	-	15	2200	c.1905A>G	c.(1903-1905)caA>caG	p.Q635Q	LTF_ENST00000493056.1_5'UTR|LTF_ENST00000426532.2_Silent_p.Q591Q|LTF_ENST00000417439.1_Silent_p.Q633Q	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	635	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				antibacterial humoral response (GO:0019731)|antifungal humoral response (GO:0019732)|bone morphogenesis (GO:0060349)|humoral immune response (GO:0006959)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|iron assimilation by chelation and transport (GO:0033214)|iron ion transport (GO:0006826)|negative regulation of apoptotic process (GO:0043066)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of osteoclast development (GO:2001205)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|negative regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000308)|ossification (GO:0001503)|phagosome maturation (GO:0090382)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of chondrocyte proliferation (GO:1902732)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|regulation of cytokine production (GO:0001817)|regulation of tumor necrosis factor production (GO:0032680)|response to host immune response (GO:0052572)|retina homeostasis (GO:0001895)|transcription, DNA-templated (GO:0006351)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|phagocytic vesicle lumen (GO:0097013)|secretory granule (GO:0030141)|specific granule (GO:0042581)	DNA binding (GO:0003677)|ferric iron binding (GO:0008199)|heparin binding (GO:0008201)|iron ion binding (GO:0005506)|protein serine/threonine kinase activator activity (GO:0043539)|serine-type endopeptidase activity (GO:0004252)	p.Q635Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)		TCCATACCTGTTGGTGGAGCA	0.547																																						uc003cpq.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(1903-1905)CAA>CAG		lactotransferrin precursor	Pefloxacin(DB00487)						129.0	97.0	108.0					3																	46480790		2203	4300	6503	SO:0001819	synonymous_variant	4057				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	g.chr3:46480790T>C		CCDS33747.1, CCDS56251.1	3p21.31	2012-10-02			ENSG00000012223	ENSG00000012223			6720	protein-coding gene	gene with protein product		150210				17476971, 3356163	Standard	NM_001199149		Approved	HLF2	uc003cpq.3	P02788	OTTHUMG00000156325	ENST00000231751.4:c.1905A>G	3.37:g.46480790T>C						LTF_uc003fzr.2_Silent_p.Q591Q|LTF_uc010hjh.2_Silent_p.Q633Q|LTF_uc003cpr.2_Silent_p.Q622Q	p.Q635Q	NM_002343	NP_002334	P02788	TRFL_HUMAN		all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	15	1943	-			635			Transferrin-like 2.		A8K9U8|B2MV13|B7Z4X2|E7EQH5|O00756|Q16780|Q16785|Q16786|Q16789|Q5DSM0|Q8IU92|Q8IZH6|Q8TCD2|Q96KZ4|Q96KZ5|Q9H1Z3|Q9UCY5	Silent	SNP	ENST00000231751.4	37	c.1905A>G	CCDS33747.1																																																																																				PASS	0.547	LTF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343951.2	NM_002343		39	57	39	57	---	---	---	---
DNAH1	25981	broad.mit.edu	37	3	52417486	52417486	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:52417486G>T	ENST00000420323.2	+	51	8287	c.8026G>T	c.(8026-8028)Gac>Tac	p.D2676Y		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2676	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2676Y(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGACGAGCAGGACCAGATCGT	0.552																																						uc011bef.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(3)	3						c.(8026-8028)GAC>TAC		dynein, axonemal, heavy chain 1							77.0	79.0	78.0					3																	52417486		2042	4193	6235	SO:0001583	missense	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52417486G>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8026G>T	3.37:g.52417486G>T	ENSP00000401514:p.Asp2676Tyr					DNAH1_uc003ddv.2_5'Flank	p.D2676Y	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	51	8287	+			2676			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	c.8026G>T	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974478	0.53720	.	.	ENSG00000114841	ENST00000420323	T	0.45668	0.89	4.87	4.87	0.63330	.	0.110956	0.40064	N	0.001198	T	0.76162	0.3949	H	0.96547	3.84	0.46298	D	0.998975	D	0.89917	1.0	D	0.79108	0.992	D	0.84653	0.0702	10	0.72032	D	0.01	.	18.2075	0.89859	0.0:0.0:1.0:0.0	.	2676	C9JXH6	.	Y	2676	ENSP00000401514:D2676Y	ENSP00000401514:D2676Y	D	+	1	0	DNAH1	52392526	1.000000	0.71417	1.000000	0.80357	0.309000	0.27889	6.096000	0.71446	2.524000	0.85096	0.655000	0.94253	GAC		PASS	0.552	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512		10	9	10	9	---	---	---	---
FLNB	2317	broad.mit.edu	37	3	58156459	58156459	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:58156459T>C	ENST00000295956.4	+	46	7944	c.7779T>C	c.(7777-7779)ccT>ccC	p.P2593P	FLNB_ENST00000493452.1_Silent_p.P2400P|FLNB_ENST00000490882.1_Silent_p.P2624P|FLNB_ENST00000358537.3_Silent_p.P2569P|FLNB_ENST00000348383.5_Silent_p.P2552P|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000429972.2_Silent_p.P2582P|FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000484981.1_3'UTR|FLNB_ENST00000419752.2_Silent_p.P2413P	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2593	Interaction with FLNA 2.|Interaction with INPPL1.|Self-association site, tail. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.P2624P(1)|p.P2593P(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AACACATCCCTGGCAGCCCTT	0.458																																						uc003djj.2																			2	Substitution - coding silent(2)		lung(2)	breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(7777-7779)CCT>CCC		filamin B isoform 2							77.0	70.0	72.0					3																	58156459		2203	4300	6503	SO:0001819	synonymous_variant	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58156459T>C	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.7779T>C	3.37:g.58156459T>C						FLNB_uc010hne.2_Silent_p.P2624P|FLNB_uc003djk.2_Silent_p.P2582P|FLNB_uc010hnf.2_Silent_p.P2569P|FLNB_uc003djl.2_Silent_p.P2413P|FLNB_uc003djm.2_Silent_p.P2400P|uc003djn.2_5'Flank	p.P2593P	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	46	7944	+			2593			Interaction with INPPL1.|Filamin 24.|Self-association site, tail (By similarity).|Interaction with FLNA 2.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Silent	SNP	ENST00000295956.4	37	c.7779T>C	CCDS2885.1																																																																																				PASS	0.458	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		22	32	22	32	---	---	---	---
ATG3	64422	broad.mit.edu	37	3	112267449	112267449	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:112267449C>T	ENST00000283290.5	-	5	708	c.274G>A	c.(274-276)Gat>Aat	p.D92N	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.D92N	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	92					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)	p.D92N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						TCCAATTCATCTGAATATTCC	0.358																																						uc003dzd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(274-276)GAT>AAT		Apg3p							149.0	132.0	138.0					3																	112267449		2203	4300	6503	SO:0001583	missense	64422				autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding	g.chr3:112267449C>T		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.274G>A	3.37:g.112267449C>T	ENSP00000283290:p.Asp92Asn					ATG3_uc003dzc.2_Missense_Mutation_p.D92N|ATG3_uc010hqe.2_Missense_Mutation_p.D92N	p.D92N	NM_022488	NP_071933	Q9NT62	ATG3_HUMAN			5	384	-			92					Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	c.274G>A	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891147	0.72524	.	.	ENSG00000144848	ENST00000283290;ENST00000402314;ENST00000492886	.	.	.	5.32	4.44	0.53790	Autophagy-related protein 3, N-terminal (1);	0.050102	0.85682	D	0.000000	T	0.50837	0.1639	L	0.33485	1.01	0.80722	D	1	D;B;B	0.56746	0.977;0.005;0.011	P;B;B	0.51582	0.674;0.033;0.033	T	0.41161	-0.9524	9	0.20046	T	0.44	0.9942	15.687	0.77418	0.0:0.8624:0.1375:0.0	.	5;92;92	C9JNW8;Q9NT62;Q9NT62-2	.;ATG3_HUMAN;.	N	92;92;5	.	ENSP00000283290:D92N	D	-	1	0	ATG3	113750139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.425000	0.66470	1.221000	0.43506	0.591000	0.81541	GAT		PASS	0.358	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		80	137	80	137	---	---	---	---
IGSF11	152404	broad.mit.edu	37	3	118753386	118753386	+	Missense_Mutation	SNP	G	G	A	rs554488208		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:118753386G>A	ENST00000393775.2	-	1	349	c.44C>T	c.(43-45)tCt>tTt	p.S15F	IGSF11_ENST00000491903.1_Missense_Mutation_p.S15F|IGSF11_ENST00000441144.2_Intron|IGSF11_ENST00000425327.2_Intron|IGSF11_ENST00000489689.1_Missense_Mutation_p.S15F|IGSF11_ENST00000354673.2_Intron	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	15					cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S15F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACCGTGCAGAGAGAGGAGCAG	0.692													G|||	1	0.000199681	0.0	0.0	5008	,	,		15447	0.001		0.0	False		,,,				2504	0.0					uc003ebw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)TCT>TTT		immunoglobulin superfamily, member 11 isoform b							20.0	28.0	26.0					3																	118753386		2024	4166	6190	SO:0001583	missense	152404				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity	g.chr3:118753386G>A	AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.44C>T	3.37:g.118753386G>A	ENSP00000377370:p.Ser15Phe					IGSF11_uc011biv.1_Missense_Mutation_p.S15F|IGSF11_uc003ebx.2_Missense_Mutation_p.S15F|IGSF11_uc003eby.2_Intron|IGSF11_uc003ebz.2_Intron|IGSF11_uc010hqs.2_Intron	p.S15F	NM_001015887	NP_001015887	Q5DX21	IGS11_HUMAN			1	291	-			15					C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	ENST00000393775.2	37	c.44C>T	CCDS46891.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899480	0.52227	.	.	ENSG00000144847	ENST00000393775;ENST00000489689;ENST00000491903	T;D;D	0.83673	-1.17;-1.75;-1.55	3.38	2.48	0.30137	Immunoglobulin-like (1);	1.185490	0.06151	N	0.674209	T	0.67524	0.2902	N	0.14661	0.345	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.004	B;B;B	0.12837	0.008;0.008;0.008	T	0.53272	-0.8462	10	0.06891	T	0.86	.	7.982	0.30190	0.0:0.0:0.7562:0.2438	.	15;15;15	C9JBA5;C9JMW0;Q5DX21	.;.;IGS11_HUMAN	F	15	ENSP00000377370:S15F;ENSP00000420486:S15F;ENSP00000417413:S15F	ENSP00000377370:S15F	S	-	2	0	IGSF11	120236076	0.768000	0.28519	0.776000	0.31678	0.764000	0.43329	2.525000	0.45598	0.743000	0.32719	0.462000	0.41574	TCT		PASS	0.692	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355075.2			5	10	5	10	---	---	---	---
C3orf30	152405	broad.mit.edu	37	3	118870083	118870083	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:118870083A>T	ENST00000295622.1	+	3	1595	c.1555A>T	c.(1555-1557)Aac>Tac	p.N519Y	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	519								p.N519Y(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)		GATTACTGAAAACTTAGTCTA	0.363																																						uc003ecb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1555-1557)AAC>TAC		hypothetical protein LOC152405							216.0	228.0	224.0					3																	118870083		2203	4300	6503	SO:0001583	missense	152405							g.chr3:118870083A>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.1555A>T	3.37:g.118870083A>T	ENSP00000295622:p.Asn519Tyr					C3orf30_uc011biw.1_Missense_Mutation_p.N518Y	p.N519Y	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	3	1595	+			519					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.1555A>T	CCDS2984.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.24|13.24	2.178140|2.178140	0.38511|0.38511	.|.	.|.	ENSG00000163424|ENSG00000163424	ENST00000492792|ENST00000295622;ENST00000470341;ENST00000473121	.|T	.|0.77489	.|-1.1	5.0|5.0	3.83|3.83	0.44106|0.44106	.|.	.|0.321303	.|0.26133	.|N	.|0.026146	D|D	0.82604|0.82604	0.5073|0.5073	L|L	0.55481|0.55481	1.735|1.735	0.24488|0.24488	N|N	0.994317|0.994317	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.74023	.|0.982;0.982	T|T	0.72909|0.72909	-0.4149|-0.4149	5|10	.|0.72032	.|D	.|0.01	-12.8224|-12.8224	7.9439|7.9439	0.29974|0.29974	0.8177:0.0:0.0:0.1822|0.8177:0.0:0.0:0.1822	.|.	.|518;519	.|E9PFE5;Q96M34	.|.;CC030_HUMAN	I|Y	204|519;518;286	.|ENSP00000295622:N519Y	.|ENSP00000295622:N519Y	K|N	+|+	2|1	0|0	C3orf30|C3orf30	120352773|120352773	0.996000|0.996000	0.38824|0.38824	0.963000|0.963000	0.40424|0.40424	0.997000|0.997000	0.91878|0.91878	1.564000|1.564000	0.36375|0.36375	0.915000|0.915000	0.36847|0.36847	0.477000|0.477000	0.44152|0.44152	AAA|AAC		PASS	0.363	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		93	571	93	571	---	---	---	---
GPR156	165829	broad.mit.edu	37	3	119900054	119900054	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:119900054C>T	ENST00000464295.1	-	8	1296	c.851G>A	c.(850-852)tGg>tAg	p.W284*	GPR156_ENST00000461057.1_Nonsense_Mutation_p.W280*|GPR156_ENST00000315843.3_Nonsense_Mutation_p.W284*			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)	p.W284*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CAGGTTGGGCCAGGAATGCAA	0.493																																						uc011bjf.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(850-852)TGG>TAG		G protein-coupled receptor 156							88.0	85.0	86.0					3																	119900054		2203	4300	6503	SO:0001587	stop_gained	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119900054C>T	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.851G>A	3.37:g.119900054C>T	ENSP00000417261:p.Trp284*					GPR156_uc011bjg.1_Nonsense_Mutation_p.W280*	p.W284*	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	7	851	-			284			Extracellular (Potential).		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Nonsense_Mutation	SNP	ENST00000464295.1	37	c.851G>A	CCDS2997.1	.	.	.	.	.	.	.	.	.	.	C	39	7.326209	0.98214	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	.	.	.	6.08	6.08	0.98989	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-11.0798	19.6516	0.95815	0.0:1.0:0.0:0.0	.	.	.	.	X	284;284;280	.	.	W	-	2	0	GPR156	121382744	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.347000	0.79356	2.894000	0.99253	0.655000	0.94253	TGG		PASS	0.493	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		48	104	48	104	---	---	---	---
POLQ	10721	broad.mit.edu	37	3	121200428	121200428	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:121200428T>C	ENST00000264233.5	-	19	6330	c.6202A>G	c.(6202-6204)Aac>Gac	p.N2068D		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2068					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)	p.N2203D(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCTTGAAGGTTTTCCTTCTGC	0.368								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(6202-6204)AAC>GAC	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							71.0	75.0	74.0					3																	121200428		2203	4300	6503	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121200428T>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6202A>G	3.37:g.121200428T>C	ENSP00000264233:p.Asn2068Asp					POLQ_uc003eed.2_Missense_Mutation_p.N1240D	p.N2068D	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	19	6331	-			2068					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.6202A>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	T	15.06	2.720371	0.48728	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50277	0.75	5.17	5.17	0.71159	.	0.280823	0.40818	N	0.001006	T	0.37517	0.1006	L	0.44542	1.39	0.30966	N	0.723089	P;B	0.46395	0.877;0.259	B;B	0.37731	0.257;0.108	T	0.42015	-0.9476	10	0.17369	T	0.5	.	15.1725	0.72884	0.0:0.0:0.0:1.0	.	2068;1240	O75417;O75417-2	DPOLQ_HUMAN;.	D	1691;2068;2204	ENSP00000264233:N2068D	ENSP00000264233:N2068D	N	-	1	0	POLQ	122683118	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.402000	0.59722	2.171000	0.68590	0.528000	0.53228	AAC		PASS	0.368	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		53	116	53	116	---	---	---	---
CASR	846	broad.mit.edu	37	3	121980393	121980393	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:121980393A>G	ENST00000490131.1	+	4	883	c.511A>G	c.(511-513)Agc>Ggc	p.S171G	CASR_ENST00000296154.5_Missense_Mutation_p.S171G|CASR_ENST00000498619.1_Missense_Mutation_p.S171G	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	171			S -> N (in HHC1). {ECO:0000269|PubMed:17698911}.		anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.S171G(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGCCTCCTCCAGCAGACTCCT	0.507																																						uc003eev.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)	7						c.(511-513)AGC>GGC		calcium-sensing receptor precursor	Cinacalcet(DB01012)						123.0	129.0	127.0					3																	121980393		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121980393A>G	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.511A>G	3.37:g.121980393A>G	ENSP00000418685:p.Ser171Gly					CASR_uc003eew.3_Missense_Mutation_p.S171G	p.S171G	NM_000388	NP_000379	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	4	883	+			171		S -> N (could be associated with FHH).	Extracellular (Potential).		Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.511A>G	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092880	0.76756	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.88277	-2.36;-2.36;-2.36	5.87	5.87	0.94306	GPCR, family 3, conserved site (1);Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94042	0.8091	M	0.78285	2.405	0.80722	D	1	D;D	0.76494	0.992;0.999	D;D	0.79108	0.987;0.992	D	0.93420	0.6776	10	0.39692	T	0.17	.	15.7569	0.78037	1.0:0.0:0.0:0.0	.	171;171	E7ENE0;P41180	.;CASR_HUMAN	G	171	ENSP00000418685:S171G;ENSP00000420194:S171G;ENSP00000296154:S171G	ENSP00000296154:S171G	S	+	1	0	CASR	123463083	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.371000	0.80710	0.533000	0.62120	AGC		PASS	0.507	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		24	292	24	292	---	---	---	---
DIRC2	84925	broad.mit.edu	37	3	122545685	122545685	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:122545685G>T	ENST00000261038.5	+	3	874	c.476G>T	c.(475-477)gGt>gTt	p.G159V		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	159					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.G159V(1)		endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGATTGGCAGGTCCAACTGTA	0.393																																						uc003efw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(475-477)GGT>GTT		disrupted in renal carcinoma 2							106.0	109.0	108.0					3																	122545685		2203	4300	6503	SO:0001583	missense	84925				transport	integral to membrane		g.chr3:122545685G>T	AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.476G>T	3.37:g.122545685G>T	ENSP00000261038:p.Gly159Val					DIRC2_uc010hrl.2_RNA|DIRC2_uc010hrm.2_5'UTR	p.G159V	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN		GBM - Glioblastoma multiforme(114;0.0614)	3	615	+			159			Helical; (Potential).		A8K561|Q8NBX9	Missense_Mutation	SNP	ENST00000261038.5	37	c.476G>T	CCDS3018.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702187	0.88924	.	.	ENSG00000138463	ENST00000261038	T	0.58358	0.34	5.89	5.89	0.94794	Major facilitator superfamily domain, general substrate transporter (1);	0.085942	0.85682	D	0.000000	T	0.73418	0.3584	M	0.76170	2.325	0.80722	D	1	D	0.65815	0.995	D	0.69479	0.964	T	0.73757	-0.3882	10	0.59425	D	0.04	.	19.3093	0.94179	0.0:0.0:1.0:0.0	.	159	Q96SL1	DIRC2_HUMAN	V	159	ENSP00000261038:G159V	ENSP00000261038:G159V	G	+	2	0	DIRC2	124028375	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	7.194000	0.77789	2.810000	0.96702	0.650000	0.86243	GGT		PASS	0.393	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356180.2	NM_032839		18	141	18	141	---	---	---	---
SLC12A8	84561	broad.mit.edu	37	3	124802767	124802767	+	Silent	SNP	G	G	A	rs200565283	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:124802767G>A	ENST00000393469.4	-	13	2161	c.2112C>T	c.(2110-2112)ctC>ctT	p.L704L	SLC12A8_ENST00000314584.7_Silent_p.L365L|SLC12A8_ENST00000430155.2_Silent_p.L505L|SLC12A8_ENST00000469902.1_Silent_p.L704L|SLC12A8_ENST00000465475.1_5'UTR|SLC12A8_ENST00000423114.2_Silent_p.L733L	NM_001195483.1	NP_001182412	A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	704					potassium ion transport (GO:0006813)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)	p.L704L(1)|p.L742L(1)		endometrium(2)|kidney(2)|lung(12)	16						CCCGGTTCACGAGGGAGGAGT	0.577													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17961	0.0		0.0	False		,,,				2504	0.0					uc003ehv.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(2110-2112)CTC>CTT		solute carrier family 12, member 8		G	,	0,4254		0,0,2127	50.0	55.0	54.0		2112,2112	-0.8	0.3	3		54	1,8469		0,1,4234	no	coding-synonymous,coding-synonymous	SLC12A8	NM_001195483.1,NM_024628.5	,	0,1,6361	AA,AG,GG		0.0118,0.0,0.0079	,	704/715,704/715	124802767	1,12723	2127	4235	6362	SO:0001819	synonymous_variant	84561				potassium ion transport	integral to membrane	symporter activity	g.chr3:124802767G>A		CCDS43143.1	3q21.2	2013-07-18	2013-07-18		ENSG00000221955	ENSG00000221955		"""Solute carriers"""	15595	protein-coding gene	gene with protein product	"""solute carrier family 12 (sodium/potassium/chloride transporters), member 8"", ""cation-chloride cotransporter 9"""	611316				11863360	Standard	NM_024628		Approved	CCC9	uc003ehv.4	A0AV02	OTTHUMG00000159483	ENST00000393469.4:c.2112C>T	3.37:g.124802767G>A						SLC12A8_uc003ehw.3_Silent_p.L733L|SLC12A8_uc003eht.3_Silent_p.L505L|SLC12A8_uc003ehu.3_Silent_p.L457L|SLC12A8_uc010hry.2_3'UTR	p.L704L	NM_024628	NP_078904	A0AV02	S12A8_HUMAN			14	2223	-			704					C9JJJ2|Q68D04|Q6I9Z2|Q6P4C0|Q7Z3A6|Q86WK0|Q8NFX9|Q8WUI3|Q96RF9|Q9H5P9	Silent	SNP	ENST00000393469.4	37	c.2112C>T	CCDS43143.1																																																																																				PASS	0.577	SLC12A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355711.4	NM_024628		10	46	10	46	---	---	---	---
ZNF148	7707	broad.mit.edu	37	3	124952367	124952367	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:124952367C>A	ENST00000360647.4	-	9	1688	c.1203G>T	c.(1201-1203)ctG>ctT	p.L401L	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Silent_p.L401L|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000485866.1_Silent_p.L401L|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000492394.1_Silent_p.L401L	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	401					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.L401L(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GTGGCTGTTTCAGACTTCTCT	0.388																																						uc003ehx.3																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(1201-1203)CTG>CTT		zinc finger protein 148							73.0	76.0	75.0					3																	124952367		2203	4300	6503	SO:0001819	synonymous_variant	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124952367C>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.1203G>T	3.37:g.124952367C>A						SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Silent_p.L401L|ZNF148_uc010hsa.2_Silent_p.L401L|ZNF148_uc003eia.3_Silent_p.L401L|ZNF148_uc003ehy.2_Intron	p.L401L	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN			9	1689	-			401					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Silent	SNP	ENST00000360647.4	37	c.1203G>T	CCDS3031.1																																																																																				PASS	0.388	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		25	57	25	57	---	---	---	---
ALDH1L1	10840	broad.mit.edu	37	3	125822661	125822661	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:125822661C>A	ENST00000393434.2	-	23	3031	c.2682G>T	c.(2680-2682)cgG>cgT	p.R894R	SLC41A3_ENST00000508835.1_5'Flank|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Silent_p.R793R|ALDH1L1_ENST00000273450.3_Silent_p.R904R|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Silent_p.R894R	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	894	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.R894R(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CTGTCTTGACCCGCAGGTACT	0.587																																						uc003eim.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2680-2682)CGG>CGT		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)						60.0	54.0	56.0					3																	125822661		2203	4300	6503	SO:0001819	synonymous_variant	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125822661C>A	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2682G>T	3.37:g.125822661C>A						ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.R793R|SLC41A3_uc011bkh.1_5'Flank	p.R894R	NM_012190	NP_036322	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	23	2872	-			894			Aldehyde dehydrogenase.		B4DG36|E9PBX3|Q68CS1	Silent	SNP	ENST00000393434.2	37	c.2682G>T	CCDS3034.1																																																																																				PASS	0.587	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		10	34	10	34	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130159169	130159169	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:130159169C>T	ENST00000432398.2	+	35	6481	c.5987C>T	c.(5986-5988)gCt>gTt	p.A1996V	COL6A5_ENST00000265379.6_Missense_Mutation_p.A1996V	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1996	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A35V(1)|p.A1996V(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTCAACATTGCTTCAGACCCT	0.418																																						uc010htj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(5986-5988)GCT>GTT		collagen, type XXIX, alpha 1							103.0	96.0	98.0					3																	130159169		1891	4115	6006	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130159169C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.5987C>T	3.37:g.130159169C>T	ENSP00000390895:p.Ala1996Val					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.A35V	p.A1996V	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			35	6481	+			1996			VWFA 9.|Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.5987C>T		.	.	.	.	.	.	.	.	.	.	C	9.542	1.113681	0.20795	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	T;T	0.14022	2.54;2.54	5.76	5.76	0.90799	von Willebrand factor, type A (3);	0.376195	0.19549	N	0.111617	T	0.27765	0.0683	L	0.54323	1.7	0.25235	N	0.989799	P;P	0.46859	0.885;0.775	P;B	0.51324	0.666;0.306	T	0.02789	-1.1110	10	0.87932	D	0	.	18.7186	0.91685	0.0:1.0:0.0:0.0	.	1996;1996	A8TX70;A8TX70-2	CO6A5_HUMAN;.	V	1996	ENSP00000390895:A1996V;ENSP00000265379:A1996V	ENSP00000265379:A1996V	A	+	2	0	COL6A5	131641859	0.659000	0.27411	0.151000	0.22473	0.045000	0.14185	5.257000	0.65473	2.721000	0.93114	0.655000	0.94253	GCT		PASS	0.418	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		24	64	24	64	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130290100	130290100	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:130290100G>T	ENST00000358511.6	+	6	2871	c.2840G>T	c.(2839-2841)gGg>gTg	p.G947V	COL6A6_ENST00000453409.2_Missense_Mutation_p.G947V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	947	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.G947V(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGGCTGTGGGGATTGATGGT	0.507																																						uc010htl.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(2839-2841)GGG>GTG		collagen type VI alpha 6 precursor							61.0	59.0	60.0					3																	130290100		1978	4164	6142	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130290100G>T	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2840G>T	3.37:g.130290100G>T	ENSP00000351310:p.Gly947Val						p.G947V	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			6	2871	+			947			VWFA 5.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.2840G>T	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294835	0.60086	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.91792	-2.91;-2.91	4.82	3.93	0.45458	von Willebrand factor, type A (3);	0.000000	0.56097	D	0.000035	D	0.96827	0.8964	M	0.93763	3.455	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.97569	1.0103	10	0.87932	D	0	.	14.1726	0.65519	0.0:0.0:0.8486:0.1514	.	947	A6NMZ7	CO6A6_HUMAN	V	947	ENSP00000351310:G947V;ENSP00000399236:G947V	ENSP00000351310:G947V	G	+	2	0	COL6A6	131772790	1.000000	0.71417	0.816000	0.32577	0.550000	0.35303	7.285000	0.78660	1.134000	0.42165	0.561000	0.74099	GGG		PASS	0.507	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		45	66	45	66	---	---	---	---
CPNE4	131034	broad.mit.edu	37	3	131300447	131300447	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:131300447G>T	ENST00000512055.1	-	13	2969	c.843C>A	c.(841-843)ggC>ggA	p.G281G	CPNE4_ENST00000429747.1_Silent_p.G281G|CPNE4_ENST00000502818.1_Silent_p.G299G|CPNE4_ENST00000511604.1_Silent_p.G281G|CPNE4_ENST00000512332.1_Silent_p.G299G			Q96A23	CPNE4_HUMAN	copine IV	281						extracellular vesicular exosome (GO:0070062)		p.G281G(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GAATCACAGTGCCTGAGTTCT	0.463																																						uc003eok.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(841-843)GGC>GGA		copine IV							302.0	241.0	262.0					3																	131300447		2203	4300	6503	SO:0001819	synonymous_variant	131034							g.chr3:131300447G>T	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.843C>A	3.37:g.131300447G>T						CPNE4_uc011blq.1_Silent_p.G299G|CPNE4_uc003eol.2_Silent_p.G299G|CPNE4_uc003eom.2_Silent_p.G281G	p.G281G	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN			9	1278	-			281					D3DNC5|Q8TEX1	Silent	SNP	ENST00000512055.1	37	c.843C>A	CCDS3072.1																																																																																				PASS	0.463	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356583.4	NM_130808		47	111	47	111	---	---	---	---
ATR	545	broad.mit.edu	37	3	142185204	142185204	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:142185204G>T	ENST00000350721.4	-	40	6980	c.6859C>A	c.(6859-6861)Cct>Act	p.P2287T	ATR_ENST00000383101.3_Missense_Mutation_p.P2223T|RP11-383G6.3_ENST00000460977.1_RNA	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2287					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P2287T(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAATGTCCAGGAAATGGTTCA	0.348								Other conserved DNA damage response genes																														uc003eux.3																			1	Substitution - Missense(1)		lung(1)	lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1)	20						c.(6859-6861)CCT>ACT	Other_conserved_DNA_damage_response_genes	ataxia telangiectasia and Rad3 related protein							150.0	136.0	141.0					3																	142185204		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142185204G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6859C>A	3.37:g.142185204G>T	ENSP00000343741:p.Pro2287Thr					ATR_uc003euy.1_Missense_Mutation_p.P173T	p.P2287T	NM_001184	NP_001175	Q13535	ATR_HUMAN			40	6981	-			2287					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.6859C>A	CCDS3124.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.5|24.5	4.543061|4.543061	0.86022|0.86022	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	T;T|.	0.81415|.	-1.49;-1.49|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77280|0.77280	0.4107|0.4107	M|M	0.76433|0.76433	2.335|2.335	0.80722|0.80722	D|D	1|1	D|.	0.63046|.	0.992|.	P|.	0.61275|.	0.886|.	T|T	0.76801|0.76801	-0.2825|-0.2825	10|5	0.87932|.	D|.	0|.	-19.3263|-19.3263	19.2151|19.2151	0.93774|0.93774	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2287|.	Q13535|.	ATR_HUMAN|.	T|Y	2287;2223|133	ENSP00000343741:P2287T;ENSP00000372581:P2223T|.	ENSP00000343741:P2287T|.	P|S	-|-	1|2	0|0	ATR|ATR	143667894|143667894	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.852000|9.852000	0.99516|0.99516	2.542000|2.542000	0.85734|0.85734	0.585000|0.585000	0.79938|0.79938	CCT|TCC		PASS	0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		55	161	55	161	---	---	---	---
PAQR9	344838	broad.mit.edu	37	3	142681874	142681874	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:142681874C>T	ENST00000340634.3	-	1	304	c.305G>A	c.(304-306)tGc>tAc	p.C102Y	RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	102						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C102Y(1)		endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GAACAGACGGCAGAACTTGCT	0.627																																						uc003evg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)TGC>TAC		progestin and adipoQ receptor family member IX							95.0	100.0	99.0					3																	142681874		2203	4300	6503	SO:0001583	missense	344838					integral to membrane	receptor activity	g.chr3:142681874C>T	AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.305G>A	3.37:g.142681874C>T	ENSP00000341564:p.Cys102Tyr					PAQR9_uc003evf.1_5'Flank	p.C102Y	NM_198504	NP_940906	Q6ZVX9	PAQR9_HUMAN			1	305	-			102			Helical; (Potential).		Q147T6	Missense_Mutation	SNP	ENST00000340634.3	37	c.305G>A	CCDS3128.1	.	.	.	.	.	.	.	.	.	.	C	0.122	-1.124720	0.01770	.	.	ENSG00000188582	ENST00000340634	T	0.28666	1.6	4.64	3.69	0.42338	.	0.680663	0.14130	N	0.339452	T	0.07863	0.0197	N	0.01048	-1.04	0.31293	N	0.689169	B	0.02656	0.0	B	0.01281	0.0	T	0.32107	-0.9919	10	0.02654	T	1	-40.4137	5.9313	0.19140	0.0:0.6635:0.1696:0.1669	.	102	Q6ZVX9	PAQR9_HUMAN	Y	102	ENSP00000341564:C102Y	ENSP00000341564:C102Y	C	-	2	0	PAQR9	144164564	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.072000	0.41510	2.286000	0.76751	0.563000	0.77884	TGC		PASS	0.627	PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504		21	38	21	38	---	---	---	---
SLC9A9	285195	broad.mit.edu	37	3	143412060	143412060	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:143412060C>G	ENST00000316549.6	-	5	831	c.623G>C	c.(622-624)gGt>gCt	p.G208A		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	208					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)	p.G208A(1)|p.G208F(1)|p.G208V(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CATCAGTGAACCAAAAAATAA	0.338																																						uc003evn.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)|skin(1)	3						c.(622-624)GGT>GCT		solute carrier family 9 (sodium/hydrogen							91.0	90.0	90.0					3																	143412060		2203	4300	6503	SO:0001583	missense	285195				regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	g.chr3:143412060C>G	AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.623G>C	3.37:g.143412060C>G	ENSP00000320246:p.Gly208Ala					SLC9A9_uc011bnk.1_Missense_Mutation_p.G82A	p.G208A	NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN			5	805	-			208			Helical; (Potential).		A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	ENST00000316549.6	37	c.623G>C	CCDS33872.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610810	0.87258	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.23754	1.89	5.53	5.53	0.82687	Cation/H+ exchanger (1);	0.000000	0.64402	D	0.000001	T	0.47210	0.1433	M	0.84948	2.725	0.80722	D	1	P	0.44344	0.833	P	0.47705	0.555	T	0.54234	-0.8324	10	0.66056	D	0.02	.	19.4414	0.94823	0.0:1.0:0.0:0.0	.	208	Q8IVB4	SL9A9_HUMAN	A	208;91	ENSP00000320246:G208A	ENSP00000320246:G208A	G	-	2	0	SLC9A9	144894750	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.655000	0.74392	2.599000	0.87857	0.650000	0.86243	GGT		PASS	0.338	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354994.1	NM_173653		12	122	12	122	---	---	---	---
PLSCR2	57047	broad.mit.edu	37	3	146173210	146173210	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:146173210A>G	ENST00000497985.1	-	6	795	c.356T>C	c.(355-357)aTc>aCc	p.I119T	PLSCR2_ENST00000336685.2_Missense_Mutation_p.I46T	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	119					phospholipid scrambling (GO:0017121)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phospholipid scramblase activity (GO:0017128)	p.I46T(1)|p.I119T(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						GCTGTTCTTGATTTCATACAT	0.328																																						uc003evv.1																			2	Substitution - Missense(2)		lung(2)		0						c.(136-138)ATC>ACC		phospholipid scramblase 2							79.0	84.0	82.0					3																	146173210		2203	4300	6503	SO:0001583	missense	57047				phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	g.chr3:146173210A>G		CCDS56284.1, CCDS3134.1, CCDS75029.1	3q24	2008-07-18			ENSG00000163746	ENSG00000163746			16494	protein-coding gene	gene with protein product		607610				10930526	Standard	NM_001199978		Approved		uc003evw.2	Q9NRY7	OTTHUMG00000159429	ENST00000497985.1:c.356T>C	3.37:g.146173210A>G	ENSP00000420132:p.Ile119Thr					PLSCR2_uc003evw.1_Missense_Mutation_p.I115T	p.I46T	NM_020359	NP_065092	Q9NRY7	PLS2_HUMAN			5	470	-			46			Cytoplasmic (By similarity).		B4DXC3|J3KR76|Q0VAQ1|Q6NSW9|Q7Z4L7	Missense_Mutation	SNP	ENST00000497985.1	37	c.137T>C	CCDS56284.1	.	.	.	.	.	.	.	.	.	.	.	22.8	4.342349	0.81911	.	.	ENSG00000163746	ENST00000336685;ENST00000535500;ENST00000497985;ENST00000489015	T;T;T	0.30714	1.52;1.52;1.52	3.1	3.1	0.35709	.	0.193881	0.22365	U	0.061036	T	0.63885	0.2549	H	0.94771	3.58	0.43885	D	0.996508	D;D	0.76494	0.998;0.999	D;D	0.76575	0.988;0.982	T	0.74725	-0.3568	10	0.87932	D	0	.	12.3575	0.55184	1.0:0.0:0.0:0.0	.	139;46	Q7Z4L7;Q9NRY7	.;PLS2_HUMAN	T	46;138;119;46	ENSP00000338707:I46T;ENSP00000420132:I119T;ENSP00000418444:I46T	ENSP00000338707:I46T	I	-	2	0	PLSCR2	147655900	0.998000	0.40836	0.564000	0.28396	0.732000	0.41865	8.654000	0.91092	1.653000	0.50694	0.455000	0.32223	ATC		PASS	0.328	PLSCR2-002	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000355264.1	NM_020359		30	278	30	278	---	---	---	---
CPA3	1359	broad.mit.edu	37	3	148583320	148583320	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:148583320G>T	ENST00000296046.3	+	2	181	c.129G>T	c.(127-129)ttG>ttT	p.L43F	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	43					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L43F(1)		NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TAAAGGACTTGGCCAAAACCA	0.393																																						uc003ewm.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(127-129)TTG>TTT		carboxypeptidase A3 precursor							120.0	129.0	126.0					3																	148583320		2203	4300	6503	SO:0001583	missense	1359				proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148583320G>T		CCDS3138.1	3q24	2012-02-10			ENSG00000163751	ENSG00000163751	3.4.17.1		2298	protein-coding gene	gene with protein product	"""mast cell carboxypeptidase A"", ""tissue carboxypeptidase A"""	114851					Standard	NM_001870		Approved		uc003ewm.3	P15088	OTTHUMG00000159526	ENST00000296046.3:c.129G>T	3.37:g.148583320G>T	ENSP00000296046:p.Leu43Phe						p.L43F	NM_001870	NP_001861	P15088	CBPA3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		2	181	+			43					Q96E94	Missense_Mutation	SNP	ENST00000296046.3	37	c.129G>T	CCDS3138.1	.	.	.	.	.	.	.	.	.	.	G	15.55	2.868162	0.51588	.	.	ENSG00000163751	ENST00000296046	T	0.27256	1.68	6.17	2.31	0.28768	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.078660	0.52532	N	0.000064	T	0.46288	0.1385	M	0.76328	2.33	0.58432	D	0.99999	D	0.89917	1.0	D	0.83275	0.996	T	0.38542	-0.9656	10	0.87932	D	0	.	8.5178	0.33257	0.3874:0.0:0.6126:0.0	.	43	P15088	CBPA3_HUMAN	F	43	ENSP00000296046:L43F	ENSP00000296046:L43F	L	+	3	2	CPA3	150066010	1.000000	0.71417	0.998000	0.56505	0.639000	0.38242	0.660000	0.25009	0.436000	0.26393	-0.345000	0.07892	TTG		PASS	0.393	CPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355974.1	NM_001870		60	51	60	51	---	---	---	---
WWTR1	25937	broad.mit.edu	37	3	149260288	149260288	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:149260288C>A	ENST00000465804.1	-	5	861	c.605G>T	c.(604-606)aGt>aTt	p.S202I	WWTR1_ENST00000360632.3_Missense_Mutation_p.S202I|WWTR1_ENST00000467467.1_Missense_Mutation_p.S202I	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1	202	Gln-rich.				cilium morphogenesis (GO:0060271)|gene expression (GO:0010467)|glomerulus development (GO:0032835)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of SMAD protein import into nucleus (GO:0060390)|regulation of transcription, DNA-templated (GO:0006355)|stem cell division (GO:0017145)|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)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.S202I(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GCTCAGGGTACTGGGGGCCAT	0.537			T	CAMTA1	epitheliod hemangioendothelioma																																	uc003exe.2				Dom	yes		3	3q23-q24	607392		WW domain containing transcription regulator 1			M					1	Substitution - Missense(1)		lung(1)	breast(3)|skin(1)	4						c.(604-606)AGT>ATT		WW domain containing transcription regulator 1							116.0	105.0	109.0					3																	149260288		2203	4300	6503	SO:0001583	missense	25937				hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity	g.chr3:149260288C>A	AK022036	CCDS3144.1	3q23-q24	2004-12-03			ENSG00000018408	ENSG00000018408			24042	protein-coding gene	gene with protein product		607392				11118213, 15096513	Standard	NM_015472		Approved	TAZ, DKFZp586I1419	uc021xfm.1	Q9GZV5	OTTHUMG00000159614	ENST00000465804.1:c.605G>T	3.37:g.149260288C>A	ENSP00000419465:p.Ser202Ile					WWTR1_uc003exf.2_Missense_Mutation_p.S202I|WWTR1_uc011bns.1_Missense_Mutation_p.S202I|WWTR1_uc003exh.2_Missense_Mutation_p.S202I	p.S202I	NM_015472	NP_056287	Q9GZV5	WWTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		3	621	-			202			Gln-rich.		D3DNH7|Q8N3P2|Q9Y3W6	Missense_Mutation	SNP	ENST00000465804.1	37	c.605G>T	CCDS3144.1	.	.	.	.	.	.	.	.	.	.	C	11.81	1.749250	0.30955	.	.	ENSG00000018408	ENST00000465804;ENST00000360632;ENST00000467467;ENST00000472417	T;T;T	0.45276	0.9;0.9;0.9	5.08	0.905	0.19307	.	0.304621	0.35970	N	0.002873	T	0.28797	0.0714	L	0.36672	1.1	0.09310	N	0.99999	B	0.25719	0.132	B	0.21917	0.037	T	0.20140	-1.0284	10	0.54805	T	0.06	-4.1918	8.0339	0.30480	0.0:0.438:0.3698:0.1922	.	202	Q9GZV5	WWTR1_HUMAN	I	202;202;202;60	ENSP00000419465:S202I;ENSP00000353847:S202I;ENSP00000419234:S202I	ENSP00000353847:S202I	S	-	2	0	WWTR1	150742978	0.188000	0.23250	0.119000	0.21687	0.983000	0.72400	0.360000	0.20250	0.286000	0.22352	0.655000	0.94253	AGT		PASS	0.537	WWTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356498.1	NM_015472		23	192	23	192	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150883274	150883274	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:150883274G>T	ENST00000474524.1	+	9	1363	c.1325G>T	c.(1324-1326)tGg>tTg	p.W442L	MED12L_ENST00000273432.4_Missense_Mutation_p.W302L|MED12L_ENST00000309237.4_Missense_Mutation_p.W442L|MED12L_ENST00000422248.2_Missense_Mutation_p.W442L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	442						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.W442L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAAGTTCGGTGGTCATTTGAC	0.418																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1324-1326)TGG>TTG		mediator of RNA polymerase II transcription,							97.0	95.0	96.0					3																	150883274		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150883274G>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1325G>T	3.37:g.150883274G>T	ENSP00000417235:p.Trp442Leu					MED12L_uc011bnz.1_Missense_Mutation_p.W302L|MED12L_uc003eyn.2_Missense_Mutation_p.W442L|MED12L_uc003eyo.2_Missense_Mutation_p.W442L	p.W442L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		9	1363	+			442					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1325G>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	32	5.120667	0.94385	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.54	5.54	0.83059	Mediator complex, subunit Med12, LCEWAV-domain (1);	0.000000	0.85682	D	0.000000	T	0.80581	0.4650	M	0.87682	2.9	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;0.996;0.992	D;D;D;D	0.97110	1.0;0.995;0.991;0.979	D	0.83678	0.0170	10	0.87932	D	0	-10.8824	19.0868	0.93206	0.0:0.0:1.0:0.0	.	302;442;442;442	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	L	442;442;442;302	ENSP00000403308:W442L;ENSP00000310760:W442L;ENSP00000417235:W442L;ENSP00000273432:W302L	ENSP00000273432:W302L	W	+	2	0	MED12L	152365964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.739000	0.91574	2.589000	0.87451	0.655000	0.94253	TGG		PASS	0.418	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		40	48	40	48	---	---	---	---
IGSF10	285313	broad.mit.edu	37	3	151166180	151166180	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:151166180A>G	ENST00000282466.3	-	4	1588	c.1589T>C	c.(1588-1590)aTa>aCa	p.I530T		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	530	Ig-like C2-type 1.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.I530T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTTTTGTCTATTAGGATCCG	0.468																																						uc011bod.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(5)|central_nervous_system(1)	13						c.(1588-1590)ATA>ACA		immunoglobulin superfamily, member 10 precursor							142.0	143.0	142.0					3																	151166180		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151166180A>G	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.1589T>C	3.37:g.151166180A>G	ENSP00000282466:p.Ile530Thr						p.I530T	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	1589	-			530			Ig-like C2-type 1.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.1589T>C	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	A	18.01	3.528464	0.64860	.	.	ENSG00000152580	ENST00000282466	T	0.69435	-0.4	4.76	4.76	0.60689	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000093	T	0.78375	0.4273	M	0.64676	1.99	0.42620	D	0.993343	D	0.76494	0.999	D	0.77557	0.99	T	0.78635	-0.2127	10	0.40728	T	0.16	.	14.2962	0.66316	1.0:0.0:0.0:0.0	.	530	Q6WRI0	IGS10_HUMAN	T	530	ENSP00000282466:I530T	ENSP00000282466:I530T	I	-	2	0	IGSF10	152648870	1.000000	0.71417	0.985000	0.45067	0.802000	0.45316	8.962000	0.93254	1.789000	0.52484	0.454000	0.30748	ATA		PASS	0.468	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		190	238	190	238	---	---	---	---
AADAC	13	broad.mit.edu	37	3	151538218	151538218	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:151538218G>A	ENST00000232892.7	+	3	535	c.409G>A	c.(409-411)Gat>Aat	p.D137N	RP11-454C18.2_ENST00000475855.1_RNA|AADAC_ENST00000488869.1_Missense_Mutation_p.D137N|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	137					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.D137N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGACAGACTTGATGCTGTCGT	0.378																																					Ovarian(30;839 841 2699 32801 46334)	uc003eze.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(409-411)GAT>AAT		arylacetamide deacetylase							116.0	105.0	109.0					3																	151538218		2203	4300	6503	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151538218G>A	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.409G>A	3.37:g.151538218G>A	ENSP00000232892:p.Asp137Asn						p.D137N	NM_001086	NP_001077	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		3	499	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	137			Lumenal (Potential).		A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.409G>A	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876078	0.33162	.	.	ENSG00000114771	ENST00000232892;ENST00000488869	T;T	0.58940	0.3;2.8	4.8	2.98	0.34508	Alpha/beta hydrolase fold-3 (1);	0.164423	0.53938	N	0.000056	T	0.48132	0.1483	N	0.16307	0.4	0.43555	D	0.995862	P	0.41848	0.763	P	0.55087	0.768	T	0.39354	-0.9618	10	0.23891	T	0.37	-17.0395	3.7952	0.08737	0.2366:0.0:0.5769:0.1865	.	137	P22760	AAAD_HUMAN	N	137	ENSP00000232892:D137N;ENSP00000419620:D137N	ENSP00000232892:D137N	D	+	1	0	AADAC	153020908	1.000000	0.71417	0.980000	0.43619	0.552000	0.35366	2.127000	0.42035	0.536000	0.28733	0.491000	0.48974	GAT		PASS	0.378	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		48	125	48	125	---	---	---	---
GFM1	85476	broad.mit.edu	37	3	158366843	158366843	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:158366843C>A	ENST00000486715.1	+	5	943	c.586C>A	c.(586-588)Cat>Aat	p.H196N	GFM1_ENST00000478576.1_Missense_Mutation_p.H196N|GFM1_ENST00000264263.5_Missense_Mutation_p.H196N	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1									p.H196N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TAAACTAAATCATAATGCAGC	0.323																																						uc003fce.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(586-588)CAT>AAT		G elongation factor, mitochondrial 1 precursor							151.0	161.0	158.0					3																	158366843		2203	4300	6503	SO:0001583	missense	85476				mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity	g.chr3:158366843C>A	AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.586C>A	3.37:g.158366843C>A	ENSP00000419038:p.His196Asn					GFM1_uc003fcd.2_Missense_Mutation_p.H196N|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.H108N	p.H196N	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		5	693	+			196						Missense_Mutation	SNP	ENST00000486715.1	37	c.586C>A	CCDS33885.1	.	.	.	.	.	.	.	.	.	.	C	14.65	2.597861	0.46318	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263	T;T;T	0.73469	-0.75;-0.75;-0.75	5.79	4.02	0.46733	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (1);	0.150374	0.64402	D	0.000011	T	0.72145	0.3424	L	0.45228	1.405	0.80722	D	1	P;P;P	0.41313	0.745;0.589;0.589	B;P;P	0.45794	0.361;0.493;0.493	T	0.73202	-0.4057	10	0.72032	D	0.01	-9.7527	12.6727	0.56876	0.0:0.8663:0.0:0.1337	.	196;196;196	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	N	196	ENSP00000419038:H196N;ENSP00000418755:H196N;ENSP00000264263:H196N	ENSP00000264263:H196N	H	+	1	0	GFM1	159849537	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	3.608000	0.54109	0.802000	0.34089	0.655000	0.94253	CAT		PASS	0.323	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352271.1	NM_024996		11	603	11	603	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906771	164906771	+	Missense_Mutation	SNP	G	G	T	rs35378268		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:164906771G>T	ENST00000475390.1	-	2	2291	c.1848C>A	c.(1846-1848)caC>caA	p.H616Q	SLITRK3_ENST00000241274.3_Missense_Mutation_p.H616Q			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	616					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.H616Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CTGGTGCAACGTGCAGCATCT	0.557										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1846-1848)CAC>CAA		slit and trk like 3 protein precursor							47.0	46.0	46.0					3																	164906771		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164906771G>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1848C>A	3.37:g.164906771G>T	ENSP00000420091:p.His616Gln	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.H616Q	p.H616Q	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2292	-			616			Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1848C>A	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	G	0.392	-0.922733	0.02396	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.51325	0.71;0.71	5.76	0.318	0.15867	.	0.000000	0.39615	N	0.001306	T	0.23133	0.0559	N	0.04959	-0.14	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.15723	-1.0427	10	0.28530	T	0.3	-12.9717	10.8855	0.46964	0.4892:0.0:0.5108:0.0	.	616	O94933	SLIK3_HUMAN	Q	616	ENSP00000420091:H616Q;ENSP00000241274:H616Q	ENSP00000241274:H616Q	H	-	3	2	SLITRK3	166389465	0.000000	0.05858	0.026000	0.17262	0.727000	0.41649	-1.703000	0.01900	-0.150000	0.11195	0.655000	0.94253	CAC		PASS	0.557	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		44	37	44	37	---	---	---	---
ZBBX	79740	broad.mit.edu	37	3	167031866	167031866	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:167031866T>A	ENST00000392766.2	-	16	1653	c.1313A>T	c.(1312-1314)tAt>tTt	p.Y438F	ZBBX_ENST00000455345.2_Missense_Mutation_p.Y438F|ZBBX_ENST00000392764.1_Missense_Mutation_p.Y409F|ZBBX_ENST00000469220.1_5'Flank|ZBBX_ENST00000392767.2_Missense_Mutation_p.Y438F|ZBBX_ENST00000307529.5_Missense_Mutation_p.Y438F	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	438						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y438F(2)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GCCATTTTCATATGGAAAGCT	0.289																																						uc003fep.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1312-1314)TAT>TTT		zinc finger, B-box domain containing							103.0	96.0	98.0					3																	167031866		1823	4079	5902	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167031866T>A	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1313A>T	3.37:g.167031866T>A	ENSP00000376519:p.Tyr438Phe					ZBBX_uc011bpc.1_Missense_Mutation_p.Y438F|ZBBX_uc003feq.2_Missense_Mutation_p.Y409F	p.Y438F	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			16	1636	-			438					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1313A>T	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	0.332	-0.955664	0.02267	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.08458	3.25;3.25;3.25;3.25;3.09	5.29	-1.98	0.07480	.	0.914546	0.09302	N	0.820814	T	0.05181	0.0138	L	0.40543	1.245	0.09310	N	1	B;B	0.19583	0.037;0.022	B;B	0.17433	0.018;0.008	T	0.46830	-0.9163	10	0.14656	T	0.56	-0.1677	1.2903	0.02059	0.1386:0.2572:0.1422:0.462	.	438;438	A8MT70-2;A8MT70	.;ZBBX_HUMAN	F	438;438;438;438;409	ENSP00000376519:Y438F;ENSP00000376520:Y438F;ENSP00000390232:Y438F;ENSP00000305065:Y438F;ENSP00000376517:Y409F	ENSP00000305065:Y438F	Y	-	2	0	ZBBX	168514560	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.121000	0.15667	-0.142000	0.11354	-0.313000	0.08912	TAT		PASS	0.289	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687		194	162	194	162	---	---	---	---
WDR49	151790	broad.mit.edu	37	3	167245807	167245807	+	Splice_Site	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:167245807T>C	ENST00000308378.3	-	11	1656		c.e11-2		WDR49_ENST00000453925.2_Intron|WDR49_ENST00000476376.1_Splice_Site|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49									p.?(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ACAGTACTCCTGAATGAAAAG	0.348																																						uc003fev.1																			1	Unknown(1)		lung(1)	large_intestine(1)|ovary(1)|skin(1)	3						c.e11-1		WD repeat domain 49							86.0	83.0	84.0					3																	167245807		2203	4300	6503	SO:0001630	splice_region_variant	151790							g.chr3:167245807T>C	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1351-2A>G	3.37:g.167245807T>C						WDR49_uc003feu.1_Splice_Site_p.E276_splice|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron	p.E451_splice	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN			11	1657	-								Q8N297	Splice_Site	SNP	ENST00000308378.3	37	c.1351_splice	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059540	0.36373	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.4893	0.61386	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	WDR49	168728501	1.000000	0.71417	0.998000	0.56505	0.385000	0.30292	5.472000	0.66768	2.178000	0.69098	0.455000	0.32223	.		PASS	0.348	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	Intron	61	165	61	165	---	---	---	---
PRKCI	5584	broad.mit.edu	37	3	169998110	169998110	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:169998110A>T	ENST00000295797.4	+	9	1106	c.801A>T	c.(799-801)aaA>aaT	p.K267N		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	267	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.K258N(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	GTTATGCCAAAGTACTGTTGG	0.378																																						uc003fgs.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|breast(1)|skin(1)	5						c.(799-801)AAA>AAT		protein kinase C, iota							117.0	116.0	116.0					3																	169998110		2203	4300	6503	SO:0001583	missense	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169998110A>T		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.801A>T	3.37:g.169998110A>T	ENSP00000295797:p.Lys267Asn						p.K267N	NM_002740	NP_002731	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		9	1039	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		267			ATP (By similarity).|Protein kinase.		D3DNQ4|Q8WW06	Missense_Mutation	SNP	ENST00000295797.4	37	c.801A>T	CCDS3212.2	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073118	0.76415	.	.	ENSG00000163558	ENST00000295797	T	0.67523	-0.27	5.86	3.47	0.39725	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	0.78880	0.4353	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77305	-0.2637	9	.	.	.	.	10.3963	0.44203	0.8676:0.0:0.1324:0.0	.	267	P41743	KPCI_HUMAN	N	267	ENSP00000295797:K267N	.	K	+	3	2	PRKCI	171480804	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.370000	0.52372	0.559000	0.29153	0.528000	0.53228	AAA		PASS	0.378	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740		156	112	156	112	---	---	---	---
ECT2	1894	broad.mit.edu	37	3	172482145	172482145	+	Silent	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:172482145T>G	ENST00000392692.3	+	12	1322	c.1146T>G	c.(1144-1146)cgT>cgG	p.R382R	ECT2_ENST00000540509.1_Silent_p.R382R|ECT2_ENST00000417960.1_Silent_p.R350R|ECT2_ENST00000427830.1_Silent_p.R351R|ECT2_ENST00000441497.2_Silent_p.R351R|ECT2_ENST00000232458.5_Silent_p.R351R	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	382					activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.R351R(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AACGACGTCGTTTAAAAGAAA	0.458																																						uc003fii.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(1051-1053)CGT>CGG		epithelial cell transforming sequence 2 oncogene							128.0	114.0	119.0					3																	172482145		2203	4300	6503	SO:0001819	synonymous_variant	1894				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr3:172482145T>G	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1146T>G	3.37:g.172482145T>G						ECT2_uc010hwv.1_Silent_p.R382R|ECT2_uc003fih.2_Silent_p.R350R|ECT2_uc003fij.1_Silent_p.R351R|ECT2_uc003fik.1_Silent_p.R351R|ECT2_uc003fil.1_Silent_p.R382R	p.R351R	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)		11	1191	+	Ovarian(172;0.00197)|Breast(254;0.158)		351					Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Silent	SNP	ENST00000392692.3	37	c.1053T>G	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	T	11.25	1.582694	0.28180	.	.	ENSG00000114346	ENST00000444250	.	.	.	5.34	1.41	0.22369	.	.	.	.	.	T	0.42517	0.1206	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22034	-1.0228	4	.	.	.	-10.7099	1.3826	0.02233	0.1288:0.1699:0.265:0.4363	.	.	.	.	G	54	.	.	V	+	2	0	ECT2	173964839	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	0.337000	0.19841	0.005000	0.14708	0.533000	0.62120	GTT		PASS	0.458	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098		17	240	17	240	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		PASS	0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			83	156	83	156	---	---	---	---
SOX2	6657	broad.mit.edu	37	3	181430281	181430281	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:181430281A>T	ENST00000325404.1	+	1	560	c.133A>T	c.(133-135)Atg>Ttg	p.M45L	SOX2_ENST00000431565.2_Missense_Mutation_p.M45L	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	45					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.M45L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CAAGCGGCCCATGAATGCCTT	0.701			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																															uc003fkx.2				Dom	yes		3	3q26.3-q27	6657	A	SRY (sex determining region Y)-box 2	yes	MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME	E			NSCLC|oesophageal squamous carcinoma		1	Substitution - Missense(1)		lung(1)		0						c.(133-135)ATG>TTG		sex-determining region Y-box 2							28.0	31.0	30.0					3																	181430281		2203	4300	6503	SO:0001583	missense	6657				cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr3:181430281A>T	BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.133A>T	3.37:g.181430281A>T	ENSP00000323588:p.Met45Leu					SOX2OT_uc003fkv.2_Intron|SOX2OT_uc003fkw.3_Intron	p.M45L	NM_003106	NP_003097	P48431	SOX2_HUMAN	all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)		1	560	+	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		45			HMG box.		Q14537	Missense_Mutation	SNP	ENST00000325404.1	37	c.133A>T	CCDS3239.1	.	.	.	.	.	.	.	.	.	.	A	13.67	2.307442	0.40795	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.93426	-3.22;-3.22	4.73	3.57	0.40892	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.93903	0.8049	L	0.41356	1.27	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.93097	0.6505	10	0.87932	D	0	.	9.5014	0.39019	0.9157:0.0:0.0843:0.0	.	45	P48431	SOX2_HUMAN	L	45	ENSP00000439111:M45L;ENSP00000323588:M45L	ENSP00000323588:M45L	M	+	1	0	SOX2	182912975	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	8.967000	0.93402	0.773000	0.33404	0.459000	0.35465	ATG		PASS	0.701	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350419.1	NM_003106		26	58	26	58	---	---	---	---
MCF2L2	23101	broad.mit.edu	37	3	182947453	182947453	+	Splice_Site	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:182947453C>A	ENST00000328913.3	-	17	2343		c.e17+1		MCF2L2_ENST00000447025.2_Splice_Site|MCF2L2_ENST00000473233.1_Splice_Site	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2								Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TTATTATATACCTGTTGTGAA	0.333																																						uc003fli.1																			1	Unknown(1)		lung(1)	ovary(2)|large_intestine(2)|breast(1)	5						c.e17+1		Rho family guanine-nucleotide exchange factor							74.0	80.0	78.0					3																	182947453		2200	4300	6500	SO:0001630	splice_region_variant	23101				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr3:182947453C>A	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.2045+1G>T	3.37:g.182947453C>A						MCF2L2_uc003flj.1_Splice_Site_p.R682_splice	p.R682_splice	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)		17	2135	-	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)							O94942|Q6P2B8|Q6ZVJ5|Q8N318	Splice_Site	SNP	ENST00000328913.3	37	c.2045_splice	CCDS3243.1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820095	0.50633	.	.	ENSG00000053524	ENST00000328913;ENST00000473233;ENST00000447025	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9585	0.64164	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCF2L2	184430147	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	4.067000	0.57527	2.350000	0.79820	0.655000	0.94253	.		PASS	0.333	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	Intron	190	171	190	171	---	---	---	---
MAP3K13	9175	broad.mit.edu	37	3	185184731	185184731	+	Silent	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:185184731A>G	ENST00000265026.3	+	10	1957	c.1623A>G	c.(1621-1623)aaA>aaG	p.K541K	MAP3K13_ENST00000535426.1_Silent_p.K397K|MAP3K13_ENST00000424227.1_Silent_p.K541K|MAP3K13_ENST00000446828.1_Silent_p.K334K|MAP3K13_ENST00000443863.1_Silent_p.K397K	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13									p.K541K(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGCCTCACAAATCTGGGATGC	0.463																																						uc010hyf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(1621-1623)AAA>AAG		mitogen-activated protein kinase kinase kinase							121.0	99.0	107.0					3																	185184731		2203	4300	6503	SO:0001819	synonymous_variant	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185184731A>G	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1623A>G	3.37:g.185184731A>G						MAP3K13_uc011brt.1_Silent_p.K334K|MAP3K13_uc011bru.1_Silent_p.K397K|MAP3K13_uc003fpi.2_Silent_p.K541K|MAP3K13_uc010hyg.2_Silent_p.K231K	p.K541K	NM_004721	NP_004712	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		11	1889	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		541						Silent	SNP	ENST00000265026.3	37	c.1623A>G	CCDS3270.1																																																																																				PASS	0.463	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		16	174	16	174	---	---	---	---
ATP13A4	84239	broad.mit.edu	37	3	193174803	193174803	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:193174803C>A	ENST00000342695.4	-	16	2223	c.1901G>T	c.(1900-1902)tGc>tTc	p.C634F	ATP13A4_ENST00000392443.3_Missense_Mutation_p.C615F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	634						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)	p.C634F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTCAGGTTGGCAAAAGCTGGC	0.453																																						uc003ftd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1900-1902)TGC>TTC		ATPase type 13A4							72.0	62.0	65.0					3																	193174803		2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193174803C>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.1901G>T	3.37:g.193174803C>A	ENSP00000339182:p.Cys634Phe					ATP13A4_uc003fte.1_Missense_Mutation_p.C634F|ATP13A4_uc011bsr.1_Missense_Mutation_p.C105F|ATP13A4_uc010hzi.2_RNA	p.C634F	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	16	2009	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		634			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.1901G>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	24.5	4.541880	0.85917	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.80653	-1.4;-1.4	6.08	6.08	0.98989	ATPase, cation-transporting, domain N (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.91778	0.7399	M	0.88704	2.975	0.80722	D	1	D;D;P	0.76494	0.999;0.998;0.889	D;D;P	0.76575	0.988;0.979;0.787	D	0.92245	0.5804	10	0.87932	D	0	-13.6486	19.6516	0.95815	0.0:1.0:0.0:0.0	.	615;634;634	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	F	615;634	ENSP00000376238:C615F;ENSP00000339182:C634F	ENSP00000339182:C634F	C	-	2	0	ATP13A4	194657497	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.472000	0.80996	2.894000	0.99253	0.655000	0.94253	TGC		PASS	0.453	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		41	22	41	22	---	---	---	---
ZNF721	170960	broad.mit.edu	37	4	435662	435662	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:435662T>C	ENST00000338977.5	-	2	2606	c.2558A>G	c.(2557-2559)tAc>tGc	p.Y853C	ZNF721_ENST00000511833.2_Missense_Mutation_p.Y865C|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721	853					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.Y635C(1)|p.Y865C(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCCACATGTGTAGGGTTTCTC	0.418																																						uc003gag.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2593-2595)TAC>TGC		zinc finger protein 721							59.0	64.0	62.0					4																	435662		2100	4243	6343	SO:0001583	missense	170960					intracellular	nucleic acid binding|zinc ion binding	g.chr4:435662T>C	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.2558A>G	4.37:g.435662T>C	ENSP00000340524:p.Tyr853Cys					ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.Y897C|ZNF721_uc010ibe.2_Missense_Mutation_p.Y853C	p.Y865C	NM_133474	NP_597731	D9N162	D9N162_HUMAN			3	3285	-			865					Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.2594A>G		.	.	.	.	.	.	.	.	.	.	T	11.51	1.659031	0.29515	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.25414	1.8;1.8	0.499	0.499	0.16914	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.48466	0.1501	M	0.84773	2.715	0.24417	N	0.994637	D;D;D	0.89917	0.994;1.0;0.999	D;D;D	0.85130	0.987;0.997;0.994	T	0.23797	-1.0178	9	0.66056	D	0.02	.	5.2826	0.15684	0.0:1.0E-4:0.0:0.9999	.	853;865;865	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	C	853;865	ENSP00000340524:Y853C;ENSP00000428878:Y865C	ENSP00000340524:Y853C	Y	-	2	0	ZNF721	425662	0.000000	0.05858	0.145000	0.22337	0.435000	0.31806	-1.046000	0.03525	0.435000	0.26365	0.163000	0.16589	TAC		PASS	0.418	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		30	61	30	61	---	---	---	---
EVC2	132884	broad.mit.edu	37	4	5570322	5570322	+	Missense_Mutation	SNP	C	C	G	rs567949398		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:5570322C>G	ENST00000344408.5	-	20	3459	c.3406G>C	c.(3406-3408)Ggg>Cgg	p.G1136R	EVC2_ENST00000344938.1_Missense_Mutation_p.G1136R|EVC2_ENST00000310917.2_Missense_Mutation_p.G1056R	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1136					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G1136R(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						AGCGTGGCCCCGGGCACCATG	0.622													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14054	0.0		0.0	False		,,,				2504	0.0					uc003gij.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(3)|ovary(2)	5						c.(3406-3408)GGG>CGG		limbin							33.0	36.0	35.0					4																	5570322		2203	4300	6503	SO:0001583	missense	132884					integral to membrane		g.chr4:5570322C>G	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.3406G>C	4.37:g.5570322C>G	ENSP00000342144:p.Gly1136Arg					EVC2_uc011bwb.1_Missense_Mutation_p.G576R|EVC2_uc003gik.2_Missense_Mutation_p.G1056R	p.G1136R	NM_147127	NP_667338	Q86UK5	LBN_HUMAN			20	3460	-			1136					Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	c.3406G>C	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	10.92	1.486812	0.26686	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.73469	-0.75;-0.75;-0.75	5.3	4.46	0.54185	.	0.552815	0.19213	N	0.119876	T	0.61375	0.2342	L	0.27053	0.805	0.09310	N	1	P	0.50710	0.938	B	0.43783	0.431	T	0.50972	-0.8764	10	0.23891	T	0.37	-25.9846	9.6707	0.40011	0.0:0.9035:0.0:0.0965	.	1136	Q86UK5	LBN_HUMAN	R	1136;1056;1136	ENSP00000339954:G1136R;ENSP00000311683:G1056R;ENSP00000342144:G1136R	ENSP00000311683:G1056R	G	-	1	0	EVC2	5621223	0.000000	0.05858	0.004000	0.12327	0.038000	0.13279	0.896000	0.28377	1.237000	0.43756	0.511000	0.50034	GGG		PASS	0.622	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127		6	24	6	24	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20525428	20525428	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:20525428T>C	ENST00000504154.1	+	13	1428	c.1176T>C	c.(1174-1176)ttT>ttC	p.F392F	SLIT2_ENST00000503837.1_Silent_p.F396F|SLIT2_ENST00000503823.1_Silent_p.F392F|SLIT2_ENST00000273739.5_Silent_p.F396F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	392					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.F392F(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TAGATGCTTTTCAGGATCTCC	0.408																																						uc003gpr.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(4)|ovary(3)	11						c.(1174-1176)TTT>TTC		slit homolog 2 precursor							157.0	148.0	151.0					4																	20525428		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525428T>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1176T>C	4.37:g.20525428T>C						SLIT2_uc003gps.1_Silent_p.F392F	p.F392F	NM_004787	NP_004778	O94813	SLIT2_HUMAN			13	1380	+			392			LRR 10.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.1176T>C	CCDS3426.1																																																																																				PASS	0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			60	138	60	138	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30724425	30724425	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:30724425A>C	ENST00000361762.2	+	1	2389	c.1381A>C	c.(1381-1383)Acc>Ccc	p.T461P	PCDH7_ENST00000543491.1_Missense_Mutation_p.T461P	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	461	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T414P(1)|p.T461P(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGTCACCTGCACCGTGGTGGG	0.642																																						uc003gsk.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(1381-1383)ACC>CCC		protocadherin 7 isoform a precursor							74.0	56.0	62.0					4																	30724425		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724425A>C	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1381A>C	4.37:g.30724425A>C	ENSP00000355243:p.Thr461Pro					PCDH7_uc011bxw.1_Missense_Mutation_p.T414P|PCDH7_uc011bxx.1_Missense_Mutation_p.T461P	p.T461P	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	2389	+			461			Extracellular (Potential).|Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1381A>C	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.85|16.85	3.235697|3.235697	0.58886|0.58886	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.52754	.|0.65;0.65	5.16|5.16	5.16|5.16	0.70880|0.70880	.|Cadherin (4);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.68723|0.68723	0.3032|0.3032	M|M	0.78801|0.78801	2.425|2.425	0.51012|0.51012	D|D	0.999907|0.999907	.|D;D;D	.|0.76494	.|0.998;0.998;0.999	.|D;D;D	.|0.72982	.|0.964;0.964;0.979	T|T	0.72440|0.72440	-0.4293|-0.4293	5|9	.|0.56958	.|D	.|0.05	.|.	15.1585|15.1585	0.72761|0.72761	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|461;414;461	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	P|P	150|461;461;414	.|ENSP00000355243:T461P;ENSP00000441802:T461P	.|ENSP00000330302:T414P	H|T	+|+	2|1	0|0	PCDH7|PCDH7	30333523|30333523	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.956000|5.956000	0.70315|0.70315	2.164000|2.164000	0.68074|0.68074	0.533000|0.533000	0.62120|0.62120	CAC|ACC		PASS	0.642	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		12	29	12	29	---	---	---	---
UGDH	7358	broad.mit.edu	37	4	39523086	39523086	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:39523086C>A	ENST00000316423.6	-	2	389	c.47G>T	c.(46-48)gGa>gTa	p.G16V	UGDH_ENST00000506179.1_Missense_Mutation_p.G16V|UGDH_ENST00000507089.1_Intron|UGDH_ENST00000501493.2_Missense_Mutation_p.G16V|UGDH_ENST00000515398.1_Intron	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	16					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.G16V(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						TGTGGGTCCTCCAACATAGCC	0.383																																						uc003guk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(46-48)GGA>GTA		UDP-glucose dehydrogenase	NADH(DB00157)						151.0	132.0	139.0					4																	39523086		2203	4300	6503	SO:0001583	missense	7358				glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity	g.chr4:39523086C>A	AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.47G>T	4.37:g.39523086C>A	ENSP00000319501:p.Gly16Val					UGDH_uc011byp.1_Intron|UGDH_uc003gul.1_Missense_Mutation_p.G16V	p.G16V	NM_003359	NP_003350	O60701	UGDH_HUMAN			2	363	-			16			NAD.		B3KUU2|B4DN25|O60589	Missense_Mutation	SNP	ENST00000316423.6	37	c.47G>T	CCDS3455.1	.	.	.	.	.	.	.	.	.	.	C	33	5.290123	0.95546	.	.	ENSG00000109814	ENST00000316423;ENST00000501493;ENST00000506179;ENST00000515021;ENST00000514106;ENST00000509391;ENST00000505698;ENST00000510490	D;D;D;D;D;D;D;D	0.99186	-5.53;-4.2;-5.53;-5.53;-5.53;-5.53;-5.53;-5.53	6.07	6.07	0.98685	UDP-glucose/GDP-mannose dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	H	0.98769	4.325	0.80722	D	1	B;D	0.89917	0.374;1.0	P;D	0.97110	0.45;1.0	D	0.97548	1.0090	10	0.87932	D	0	-21.8079	19.6475	0.95784	0.0:1.0:0.0:0.0	.	16;16	B3KUU2;O60701	.;UGDH_HUMAN	V	16;16;16;29;16;16;16;16	ENSP00000319501:G16V;ENSP00000422909:G16V;ENSP00000421757:G16V;ENSP00000421954:G29V;ENSP00000425834:G16V;ENSP00000422603:G16V;ENSP00000422565:G16V;ENSP00000427708:G16V	ENSP00000319501:G16V	G	-	2	0	UGDH	39199481	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.456000	0.80751	2.885000	0.99019	0.655000	0.94253	GGA		PASS	0.383	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216818.3	NM_003359		4	157	4	157	---	---	---	---
BEND4	389206	broad.mit.edu	37	4	42119660	42119660	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:42119660C>G	ENST00000502486.1	-	6	2059	c.1480G>C	c.(1480-1482)Gcc>Ccc	p.A494P	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	494	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.A490P(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CCCTGTCGGGCGTGACCGACA	0.527																																						uc003gwn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1480-1482)GCC>CCC		BEN domain containing 4 isoform a							36.0	36.0	36.0					4																	42119660		1847	4088	5935	SO:0001583	missense	389206							g.chr4:42119660C>G	AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.1480G>C	4.37:g.42119660C>G	ENSP00000421169:p.Ala494Pro					BEND4_uc003gwm.2_3'UTR	p.A494P	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN			6	2060	-			494			BEN.		A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Missense_Mutation	SNP	ENST00000502486.1	37	c.1480G>C	CCDS47048.1	.	.	.	.	.	.	.	.	.	.	C	34	5.403385	0.96051	.	.	ENSG00000188848	ENST00000411720;ENST00000502486	.	.	.	5.41	5.41	0.78517	BEN domain (1);	0.000000	0.85682	D	0.000000	T	0.64125	0.2570	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.70561	-0.4838	9	0.87932	D	0	-15.5567	19.5583	0.95363	0.0:1.0:0.0:0.0	.	494	Q6ZU67	BEND4_HUMAN	P	365;494	.	ENSP00000412495:A365P	A	-	1	0	BEND4	41814417	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	7.445000	0.80570	2.691000	0.91804	0.561000	0.74099	GCC		PASS	0.527	BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406		5	11	5	11	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42446601	42446601	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:42446601C>T	ENST00000381668.5	-	32	3240	c.3009G>A	c.(3007-3009)tgG>tgA	p.W1003*	AC084010.1_ENST00000582816.1_RNA|ATP8A1_ENST00000264449.10_Nonsense_Mutation_p.W988*	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1003					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|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.W1003*(1)|p.W988*(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTACCCATGTCCAATATGATG	0.363																																						uc003gwr.2																			2	Substitution - Nonsense(2)		lung(2)	skin(2)|central_nervous_system(1)	3						c.(3007-3009)TGG>TGA		ATPase, aminophospholipid transporter (APLT),	Phosphatidylserine(DB00144)						125.0	111.0	116.0					4																	42446601		2203	4300	6503	SO:0001587	stop_gained	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42446601C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.3009G>A	4.37:g.42446601C>T	ENSP00000371084:p.Trp1003*					ATP8A1_uc003gwq.2_Nonsense_Mutation_p.W229*|ATP8A1_uc003gws.2_Nonsense_Mutation_p.W988*	p.W1003*	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN			32	3241	-			1003			Cytoplasmic (Potential).		Q32M35|Q32M36|Q4W5J7|Q4W5P2	Nonsense_Mutation	SNP	ENST00000381668.5	37	c.3009G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	42	9.376339	0.99153	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	.	.	.	5.01	5.01	0.66863	.	0.151725	0.47852	D	0.000211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8559	0.86006	0.0:1.0:0.0:0.0	.	.	.	.	X	1003;988	.	ENSP00000264449:W988X	W	-	3	0	ATP8A1	42141358	1.000000	0.71417	1.000000	0.80357	0.625000	0.37756	7.401000	0.79962	2.488000	0.83962	0.591000	0.81541	TGG		PASS	0.363	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		15	50	15	50	---	---	---	---
GRXCR1	389207	broad.mit.edu	37	4	42895516	42895516	+	Missense_Mutation	SNP	A	A	G	rs372995631		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:42895516A>G	ENST00000399770.2	+	1	233	c.233A>G	c.(232-234)gAt>gGt	p.D78G	RN7SKP82_ENST00000516786.1_RNA	NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	78					auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)	p.D78G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AATGACCAGGATAGCTTGCTG	0.463																																						uc003gwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(232-234)GAT>GGT		glutaredoxin, cysteine rich 1		A	GLY/ASP	0,4096		0,0,2048	146.0	155.0	152.0		233	5.9	1.0	4		152	2,8402		0,2,4200	no	missense	GRXCR1	NM_001080476.2	94	0,2,6248	GG,GA,AA		0.0238,0.0,0.016	probably-damaging	78/291	42895516	2,12498	2048	4202	6250	SO:0001583	missense	389207				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity	g.chr4:42895516A>G		CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.233A>G	4.37:g.42895516A>G	ENSP00000382670:p.Asp78Gly						p.D78G	NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN			1	233	+			78						Missense_Mutation	SNP	ENST00000399770.2	37	c.233A>G	CCDS43225.1	.	.	.	.	.	.	.	.	.	.	A	12.48	1.950129	0.34377	0.0	2.38E-4	ENSG00000215203	ENST00000399770	T	0.36157	1.27	5.87	5.87	0.94306	.	0.000000	0.85682	U	0.000000	T	0.52613	0.1745	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.43637	-0.9379	10	0.13853	T	0.58	-35.5582	15.4474	0.75240	1.0:0.0:0.0:0.0	.	78	A8MXD5	GRCR1_HUMAN	G	78	ENSP00000382670:D78G	ENSP00000382670:D78G	D	+	2	0	GRXCR1	42590273	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	8.956000	0.93066	2.247000	0.74100	0.528000	0.53228	GAT		PASS	0.463	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360576.1	NM_001080476		38	83	38	83	---	---	---	---
KDR	3791	broad.mit.edu	37	4	55979624	55979624	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:55979624G>A	ENST00000263923.4	-	7	1118	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	275	Ig-like C2-type 3.		R -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R275*(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTTAGGTCTCGGTTTACAAGT	0.398			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																												uc003has.2				Dom	yes		4	4q11-q12	3791	Mis	vascular endothelial growth factor receptor 2			E			NSCLC|angiosarcoma		1	Substitution - Nonsense(1)	p.R275L(1)	lung(1)	lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1)	33						c.(823-825)CGA>TGA		kinase insert domain receptor precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						107.0	105.0	106.0					4																	55979624		2203	4300	6503	SO:0001587	stop_gained	3791	Familial_Infantile_Hemangioma			angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	g.chr4:55979624G>A	AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.823C>T	4.37:g.55979624G>A	ENSP00000263923:p.Arg275*	TSP Lung(20;0.16)				KDR_uc003hat.1_Nonsense_Mutation_p.R275*|KDR_uc011bzx.1_Nonsense_Mutation_p.R275*	p.R275*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Epithelial(7;0.189)		7	1125	-	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		275		R -> L (in a colorectal cancer sample; somatic mutation).	Ig-like C2-type 3.|Extracellular (Potential).		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	c.823C>T	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	36	5.673838	0.96764	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.47	5.47	0.80525	.	0.241281	0.37715	N	0.001963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.0382	0.53438	0.0:0.0:0.7265:0.2735	.	.	.	.	X	275	.	ENSP00000263923:R275X	R	-	1	2	KDR	55674381	0.078000	0.21339	0.540000	0.28089	0.045000	0.14185	-0.305000	0.08188	2.557000	0.86248	0.563000	0.77884	CGA		PASS	0.398	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			26	77	26	77	---	---	---	---
LPHN3	23284	broad.mit.edu	37	4	62800567	62800567	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:62800567G>C	ENST00000514591.1	+	13	2247	c.1918G>C	c.(1918-1920)Gag>Cag	p.E640Q	LPHN3_ENST00000508946.1_Missense_Mutation_p.E640Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.E708Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.E708Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.E708Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.E708Q|LPHN3_ENST00000514157.1_Missense_Mutation_p.E640Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.E708Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.E640Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.E640Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.E640Q|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000511324.1_Missense_Mutation_p.E708Q|LPHN3_ENST00000512091.2_Missense_Mutation_p.E640Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.E640Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.E708Q			Q9HAR2	LPHN3_HUMAN	latrophilin 3	627					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)	p.E640Q(3)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GGCAATGGTCGAGACAGTTAA	0.488																																						uc010ihh.2																			3	Substitution - Missense(3)		lung(3)	lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1)	18						c.(1918-1920)GAG>CAG		latrophilin 3 precursor							66.0	70.0	68.0					4																	62800567		2044	4204	6248	SO:0001583	missense	23284				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr4:62800567G>C	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1918G>C	4.37:g.62800567G>C	ENSP00000422533:p.Glu640Gln					LPHN3_uc003hcq.3_Missense_Mutation_p.E640Q|LPHN3_uc003hct.2_Missense_Mutation_p.E33Q|LPHN3_uc003hcs.1_Missense_Mutation_p.E456Q	p.E640Q	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN			11	2091	+			627			Extracellular (Potential).		E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	37	c.1918G>C	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.107814|4.107814	0.77096|0.77096	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.09073|.	3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02;3.02|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Domain of unknown function DUF3497 (1);|.	0.102883|.	0.64402|.	D|.	0.000004|.	T|T	0.57519|0.57519	0.2059|0.2059	N|N	0.25647|0.25647	0.755|0.755	0.58432|0.58432	D|D	0.999991|0.999991	P;P;P|.	0.52577|.	0.954;0.954;0.899|.	P;P;B|.	0.53809|.	0.735;0.735;0.414|.	T|T	0.49753|0.49753	-0.8906|-0.8906	10|5	0.42905|.	T|.	0.14|.	.|.	19.4372|19.4372	0.94801|0.94801	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	640;627;640|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	Q|P	640;640;708;708;640;627;640;627;640;708;708;708;640;640;640;708;708;640|97	ENSP00000423388:E640Q;ENSP00000422533:E640Q;ENSP00000423787:E708Q;ENSP00000425033:E708Q;ENSP00000424120:E640Q;ENSP00000439831:E640Q;ENSP00000421476:E708Q;ENSP00000424030:E708Q;ENSP00000421372:E708Q;ENSP00000425201:E640Q;ENSP00000423434:E640Q;ENSP00000421627:E640Q;ENSP00000420931:E708Q;ENSP00000425884:E708Q;ENSP00000424258:E640Q|.	ENSP00000280009:E640Q|.	E|R	+|+	1|2	0|0	LPHN3|LPHN3	62483162|62483162	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	9.657000|9.657000	0.98554|0.98554	2.827000|2.827000	0.97445|0.97445	0.650000|0.650000	0.86243|0.86243	GAG|CGA		PASS	0.488	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1			10	31	10	31	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66217280	66217280	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:66217280C>A	ENST00000273854.3	-	14	2935	c.2335G>T	c.(2335-2337)Ggc>Tgc	p.G779C	EPHA5_ENST00000511294.1_Missense_Mutation_p.G780C|EPHA5_ENST00000432638.2_Missense_Mutation_p.G616C|EPHA5_ENST00000354839.4_Missense_Mutation_p.G757C	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	779	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.G779C(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTCAGCATGCCAACAAGCTGA	0.418										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - Missense(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2335-2337)GGC>TGC		ephrin receptor EphA5 isoform a precursor							112.0	100.0	104.0					4																	66217280		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66217280C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2335G>T	4.37:g.66217280C>A	ENSP00000273854:p.Gly779Cys	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.G711C|EPHA5_uc003hcz.2_Missense_Mutation_p.G757C|EPHA5_uc011cah.1_Missense_Mutation_p.G780C|EPHA5_uc011cai.1_Missense_Mutation_p.G758C|EPHA5_uc003hda.2_Missense_Mutation_p.G780C	p.G779C	NM_004439	NP_004430	P54756	EPHA5_HUMAN			14	2528	-			779			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2335G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	31	5.082415	0.94050	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66	5.98	5.98	0.97165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000011	D	0.89774	0.6812	L	0.49350	1.555	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.998	D	0.89609	0.3840	10	0.87932	D	0	.	20.4366	0.99092	0.0:1.0:0.0:0.0	.	758;780;757;779	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	C	779;616;757;780	ENSP00000273854:G779C;ENSP00000389208:G616C;ENSP00000346899:G757C;ENSP00000427638:G780C	ENSP00000273854:G779C	G	-	1	0	EPHA5	65899875	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.843000	0.97960	0.585000	0.79938	GGC		PASS	0.418	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		22	57	22	57	---	---	---	---
TMPRSS11E	28983	broad.mit.edu	37	4	69334596	69334596	+	Splice_Site	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:69334596G>A	ENST00000305363.4	+	4	322		c.e4-1			NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E						cognition (GO:0050890)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.?(1)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTACAAACAGGTGAAAAATG	0.279																																						uc003hdz.3																			1	Unknown(1)		lung(1)								c.e4-1		transmembrane protease, serine 11E							81.0	95.0	90.0					4																	69334596		2202	4289	6491	SO:0001630	splice_region_variant	0							g.chr4:69334596G>A	AF064819	CCDS33993.1	4q13.2	2010-04-13			ENSG00000087128	ENSG00000087128		"""Serine peptidases / Transmembrane"""	24465	protein-coding gene	gene with protein product		610399	"""transmembrane protease, serine 11E2"""	TMPRSS11E2		15328353	Standard	NM_014058		Approved	DESC1	uc003hdz.4	Q9UL52	OTTHUMG00000160438	ENST00000305363.4:c.259-1G>A	4.37:g.69334596G>A							p.V87_splice	NM_014058	NP_054777					4	323	+								A6NL71|Q14DC8|Q6UW31	Splice_Site	SNP	ENST00000305363.4	37	c.259_splice	CCDS33993.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732202	0.69189	.	.	ENSG00000087128	ENST00000305363	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0374	0.80640	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMPRSS11E	69017191	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.855000	0.62925	2.857000	0.98124	0.650000	0.86243	.		PASS	0.279	TMPRSS11E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360584.1	NM_014058	Intron	9	365	9	365	---	---	---	---
HTN3	3347	broad.mit.edu	37	4	70897695	70897695	+	Splice_Site	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:70897695G>C	ENST00000530128.1	+	3	126		c.e3-1		HTN3_ENST00000381057.3_Splice_Site|HTN3_ENST00000526767.1_Splice_Site			P15516	HIS3_HUMAN	histatin 3						biomineral tissue development (GO:0031214)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.?(2)		breast(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	8						TCTTTTCCAAGGGAGCTGATT	0.234																																						uc003hew.2																			2	Unknown(2)		lung(2)	ovary(1)|skin(1)	2						c.e3-1		histatin 3							41.0	43.0	43.0					4																	70897695		2165	4252	6417	SO:0001630	splice_region_variant	3347				biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular region	metal ion binding|protein binding	g.chr4:70897695G>C		CCDS33999.1	4q13	2008-08-29							5284	protein-coding gene	gene with protein product		142702					Standard	NM_000200		Approved	HIS2	uc003hew.2	P15516		ENST00000530128.1:c.52-1G>C	4.37:g.70897695G>C							p.G18_splice	NM_000200	NP_000191	P15516	HIS3_HUMAN			3	169	+								Q16243|Q502Z1	Splice_Site	SNP	ENST00000530128.1	37	c.52_splice	CCDS33999.1	.	.	.	.	.	.	.	.	.	.	G	6.276	0.418999	0.11870	.	.	ENSG00000205649	ENST00000526767;ENST00000530128;ENST00000381057	.	.	.	2.77	2.77	0.32553	.	.	.	.	.	.	.	.	.	.	.	0.42198	D	0.991758	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.194	0.37217	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HTN3	70932284	0.497000	0.26067	0.042000	0.18584	0.081000	0.17604	3.288000	0.51739	1.878000	0.54408	0.505000	0.49811	.		PASS	0.234	HTN3-006	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387375.1	NM_000200	Intron	5	153	5	153	---	---	---	---
AMTN	401138	broad.mit.edu	37	4	71389637	71389637	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:71389637C>A	ENST00000339336.4	+	4	321	c.191C>A	c.(190-192)cCa>cAa	p.P64Q	AMTN_ENST00000504451.1_Missense_Mutation_p.P63Q	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	64					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|odontogenesis of dentin-containing tooth (GO:0042475)	basal lamina (GO:0005605)|cell-cell junction (GO:0005911)|proteinaceous extracellular matrix (GO:0005578)		p.P64Q(1)		NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			ACACTGGGGCCAGATCTGCAT	0.398																																						uc003hfk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(190-192)CCA>CAA		amelotin precursor							156.0	147.0	150.0					4																	71389637		2203	4300	6503	SO:0001583	missense	401138				biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		g.chr4:71389637C>A	AY358528	CCDS3542.1, CCDS68716.1	4q13.3	2006-12-12			ENSG00000187689	ENSG00000187689			33188	protein-coding gene	gene with protein product		610912				16304441	Standard	NM_001286731		Approved	UNQ689, RSTI689	uc003hfk.1	Q6UX39	OTTHUMG00000129906	ENST00000339336.4:c.191C>A	4.37:g.71389637C>A	ENSP00000341013:p.Pro64Gln					AMTN_uc010ihy.1_Missense_Mutation_p.P63Q	p.P64Q	NM_212557	NP_997722	Q6UX39	AMTN_HUMAN	Lung(101;0.235)		4	280	+			64					Q0P503|Q0P506	Missense_Mutation	SNP	ENST00000339336.4	37	c.191C>A	CCDS3542.1	.	.	.	.	.	.	.	.	.	.	C	9.754	1.168295	0.21621	.	.	ENSG00000187689	ENST00000339336;ENST00000504451	T;T	0.30182	1.54;1.54	4.93	4.09	0.47781	.	0.685475	0.12839	N	0.434995	T	0.15046	0.0363	N	0.03608	-0.345	0.26144	N	0.98024	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.15292	-1.0442	10	0.37606	T	0.19	-5.0513	10.9035	0.47067	0.1873:0.8127:0.0:0.0	.	63;64	Q6UX39-2;Q6UX39	.;AMTN_HUMAN	Q	64;63	ENSP00000341013:P64Q;ENSP00000422452:P63Q	ENSP00000341013:P64Q	P	+	2	0	AMTN	71424226	1.000000	0.71417	0.996000	0.52242	0.683000	0.39861	1.969000	0.40510	1.440000	0.47531	-0.152000	0.13540	CCA		PASS	0.398	AMTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252157.1	NM_212557		72	203	72	203	---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	73012893	73012893	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:73012893C>A	ENST00000308744.6	+	4	1031	c.933C>A	c.(931-933)gaC>gaA	p.D311E	NPFFR2_ENST00000358749.3_Missense_Mutation_p.D209E|NPFFR2_ENST00000395999.1_Missense_Mutation_p.D212E|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	311					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)	p.D311E(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCCGGGAAGACTGGCCAAATC	0.463																																						uc003hgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(931-933)GAC>GAA		neuropeptide FF receptor 2 isoform 1							106.0	93.0	97.0					4																	73012893		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73012893C>A	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.933C>A	4.37:g.73012893C>A	ENSP00000307822:p.Asp311Glu					NPFFR2_uc010iig.1_Missense_Mutation_p.D93E|NPFFR2_uc003hgi.2_Missense_Mutation_p.D212E|NPFFR2_uc003hgh.2_Missense_Mutation_p.D209E|NPFFR2_uc003hgj.2_RNA	p.D311E	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1031	+			311			Extracellular (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.933C>A	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	c	2.962	-0.214366	0.06101	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.38887	1.11;1.11;1.11	5.91	-1.13	0.09775	GPCR, rhodopsin-like superfamily (1);	0.656142	0.14344	N	0.325513	T	0.20618	0.0496	N	0.20986	0.625	0.36081	D	0.842783	B;B	0.21147	0.021;0.052	B;B	0.30401	0.012;0.115	T	0.38308	-0.9667	10	0.02654	T	1	.	3.2355	0.06763	0.1044:0.378:0.1021:0.4155	.	212;311	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	E	311;212;209	ENSP00000307822:D311E;ENSP00000379321:D212E;ENSP00000351599:D209E	ENSP00000307822:D311E	D	+	3	2	NPFFR2	73231757	0.038000	0.19896	0.909000	0.35828	0.020000	0.10135	-0.485000	0.06520	-0.653000	0.05401	-0.119000	0.15052	GAC		PASS	0.463	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		66	66	66	66	---	---	---	---
CDKL2	8999	broad.mit.edu	37	4	76523342	76523342	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:76523342T>C	ENST00000429927.2	-	8	1642	c.939A>G	c.(937-939)ttA>ttG	p.L313L	CDKL2_ENST00000307465.4_Silent_p.L313L	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	313					sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)	p.L313L(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ATTTTTTAGATAAAGAAACAT	0.289																																						uc003hiq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|stomach(2)|breast(2)|skin(1)	7						c.(937-939)TTA>TTG		cyclin-dependent kinase-like 2							39.0	41.0	40.0					4																	76523342		2199	4270	6469	SO:0001819	synonymous_variant	8999				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr4:76523342T>C	U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.939A>G	4.37:g.76523342T>C						CDKL2_uc011cbp.1_Silent_p.L313L|CDKL2_uc010iix.1_RNA	p.L313L	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)		8	1464	-			313					B2R695	Silent	SNP	ENST00000429927.2	37	c.939A>G	CCDS3570.1																																																																																				PASS	0.289	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252409.2	NM_003948		81	106	81	106	---	---	---	---
ART3	419	broad.mit.edu	37	4	77003484	77003484	+	Missense_Mutation	SNP	G	G	A	rs142545952	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:77003484G>A	ENST00000355810.4	+	3	696	c.577G>A	c.(577-579)Gct>Act	p.A193T	ART3_ENST00000341029.5_Missense_Mutation_p.A193T|ART3_ENST00000513494.1_3'UTR|ART3_ENST00000349321.3_Missense_Mutation_p.A193T	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	193					protein ADP-ribosylation (GO:0006471)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.A193T(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CAAACCTCAGGCTGCTAATGA	0.403																																						uc003hjo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(577-579)GCT>ACT		ADP-ribosyltransferase 3 isoform a		G	THR/ALA,THR/ALA,THR/ALA	0,4406		0,0,2203	46.0	43.0	44.0		577,577,577	1.0	0.0	4	dbSNP_134	44	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense,missense	ART3	NM_001130016.1,NM_001130017.1,NM_001179.4	58,58,58	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign,benign,benign	193/390,193/368,193/379	77003484	4,13002	2203	4300	6503	SO:0001583	missense	419				protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity	g.chr4:77003484G>A	X95827	CCDS3575.1, CCDS47079.1, CCDS47080.1	4q21.1	2008-05-15			ENSG00000156219	ENSG00000156219			725	protein-coding gene	gene with protein product		603086				9119374	Standard	NM_001130017		Approved		uc003hjo.3	Q13508	OTTHUMG00000130110	ENST00000355810.4:c.577G>A	4.37:g.77003484G>A	ENSP00000348064:p.Ala193Thr					ART3_uc003hji.2_Missense_Mutation_p.A193T|ART3_uc003hjj.2_Missense_Mutation_p.A193T|ART3_uc003hjk.2_Missense_Mutation_p.A193T|ART3_uc010ija.1_Missense_Mutation_p.A193T|ART3_uc003hjn.2_Missense_Mutation_p.A193T|ART3_uc003hjp.2_Intron|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Missense_Mutation_p.A163T|ART3_uc010ijc.2_Missense_Mutation_p.A163T|ART3_uc010ijd.2_Missense_Mutation_p.A163T	p.A193T	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		3	696	+			193					Q53XW3|Q6FHT7|Q8WVJ7|Q93069|Q96HL1	Missense_Mutation	SNP	ENST00000355810.4	37	c.577G>A	CCDS47079.1	.	.	.	.	.	.	.	.	.	.	G	3.557	-0.090400	0.07053	0.0	4.65E-4	ENSG00000156219	ENST00000341029;ENST00000513122;ENST00000355810;ENST00000349321	T;T;T;T	0.14766	2.48;2.48;2.48;2.48	6.04	1.03	0.20045	.	0.443020	0.25575	N	0.029735	T	0.10121	0.0248	L	0.46157	1.445	0.09310	N	1	B;B;P;B;B;B	0.34977	0.007;0.003;0.478;0.015;0.023;0.254	B;B;B;B;B;B	0.31390	0.019;0.007;0.129;0.038;0.016;0.098	T	0.21518	-1.0243	9	.	.	.	-6.6012	7.7094	0.28669	0.2965:0.1213:0.5823:0.0	.	163;193;193;193;193;193	D6RBN3;E7ESB3;B4DHX3;Q13508;Q13508-3;Q13508-2	.;.;.;NAR3_HUMAN;.;.	T	193	ENSP00000343843:A193T;ENSP00000422287:A193T;ENSP00000348064:A193T;ENSP00000304313:A193T	.	A	+	1	0	ART3	77222508	0.002000	0.14202	0.000000	0.03702	0.015000	0.08874	0.959000	0.29240	0.154000	0.19237	-0.251000	0.11542	GCT		PASS	0.403	ART3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252416.2	NM_001179		22	65	22	65	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79166399	79166399	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:79166399C>G	ENST00000325942.6	+	4	669	c.229C>G	c.(229-231)Caa>Gaa	p.Q77E	FRAS1_ENST00000264895.6_Missense_Mutation_p.Q77E|FRAS1_ENST00000264899.6_Missense_Mutation_p.Q77E	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	77	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.Q77E(3)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGAAGTGCTTCAAATAGCTGC	0.428																																						uc003hlb.2																			3	Substitution - Missense(3)		lung(3)	large_intestine(5)	5						c.(229-231)CAA>GAA		Fraser syndrome 1							84.0	82.0	82.0					4																	79166399		1975	4171	6146	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79166399C>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.229C>G	4.37:g.79166399C>G	ENSP00000326330:p.Gln77Glu					FRAS1_uc003hkw.2_Missense_Mutation_p.Q77E|FRAS1_uc003hky.1_5'UTR	p.Q77E	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			4	669	+			77			VWFC 1.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.229C>G	CCDS54772.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.445|8.445	0.851695|0.851695	0.17034|0.17034	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000502446|ENST00000325942;ENST00000264895;ENST00000264899;ENST00000380674	.|T;T;T	.|0.64438	.|-0.1;-0.1;-0.1	5.47|5.47	4.61|4.61	0.57282|0.57282	.|.	.|0.382752	.|0.25922	.|N	.|0.027424	T|T	0.40222|0.40222	0.1108|0.1108	N|N	0.04805|0.04805	-0.155|-0.155	0.23665|0.23665	N|N	0.997161|0.997161	.|B;P	.|0.36086	.|0.349;0.536	.|B;B	.|0.34590	.|0.08;0.186	T|T	0.31971|0.31971	-0.9924|-0.9924	5|10	.|0.40728	.|T	.|0.16	.|.	12.6227|12.6227	0.56612|0.56612	0.0:0.9172:0.0:0.0828|0.0:0.9172:0.0:0.0828	.|.	.|77;77	.|E9PHH6;A2RRR8	.|.;.	L|E	5|77	.|ENSP00000326330:Q77E;ENSP00000264895:Q77E;ENSP00000264899:Q77E	.|ENSP00000264895:Q77E	F|Q	+|+	3|1	2|0	FRAS1|FRAS1	79385423|79385423	0.702000|0.702000	0.27816|0.27816	0.604000|0.604000	0.28916|0.28916	0.067000|0.067000	0.16453|0.16453	1.534000|1.534000	0.36051|0.36051	1.411000|1.411000	0.46957|0.46957	0.655000|0.655000	0.94253|0.94253	TTC|CAA		PASS	0.428	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			5	13	5	13	---	---	---	---
FGF5	2250	broad.mit.edu	37	4	81188121	81188121	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:81188121A>C	ENST00000312465.7	+	1	369	c.143A>C	c.(142-144)cAg>cCg	p.Q48P	FGF5_ENST00000456523.3_Missense_Mutation_p.Q48P	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	48					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)	p.Q48P(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGCAGCAGACAGAGCAGCAGT	0.627																																						uc003hmd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(142-144)CAG>CCG		fibroblast growth factor 5 isoform 1 precursor							58.0	57.0	57.0					4																	81188121		2203	4300	6503	SO:0001583	missense	2250				cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	g.chr4:81188121A>C	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.143A>C	4.37:g.81188121A>C	ENSP00000311697:p.Gln48Pro					FGF5_uc003hme.2_Missense_Mutation_p.Q48P	p.Q48P	NM_004464	NP_004455	P12034	FGF5_HUMAN			1	380	+			48					B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	37	c.143A>C	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	A	2.297	-0.361117	0.05103	.	.	ENSG00000138675	ENST00000312465;ENST00000456523	T;T	0.07567	3.18;3.18	5.09	-0.00785	0.14007	.	1.960840	0.02133	N	0.056551	T	0.06096	0.0158	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.38866	-0.9641	10	0.66056	D	0.02	.	4.8448	0.13509	0.4378:0.2926:0.2696:0.0	.	48;48	P12034-2;P12034	.;FGF5_HUMAN	P	48	ENSP00000311697:Q48P;ENSP00000398353:Q48P	ENSP00000311697:Q48P	Q	+	2	0	FGF5	81407145	0.007000	0.16637	0.002000	0.10522	0.007000	0.05969	-0.196000	0.09532	-0.228000	0.09869	-0.366000	0.07423	CAG		PASS	0.627	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2			21	41	21	41	---	---	---	---
HPSE	10855	broad.mit.edu	37	4	84216553	84216553	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:84216553C>T	ENST00000405413.2	-	13	1712	c.1576G>A	c.(1576-1578)Gct>Act	p.A526T	HPSE_ENST00000513463.1_Missense_Mutation_p.A468T|HPSE_ENST00000512196.1_Missense_Mutation_p.A452T|HPSE_ENST00000311412.5_Missense_Mutation_p.A526T	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	526					carbohydrate metabolic process (GO:0005975)|cell-matrix adhesion (GO:0007160)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan catabolic process (GO:0030200)|positive regulation of blood coagulation (GO:0030194)|positive regulation of hair follicle development (GO:0051798)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation vascular endothelial growth factor production (GO:0010575)|proteoglycan metabolic process (GO:0006029)|regulation of hair follicle development (GO:0051797)|small molecule metabolic process (GO:0044281)|vascular wound healing (GO:0061042)	extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)	beta-glucuronidase activity (GO:0004566)|heparanase activity (GO:0030305)|protein dimerization activity (GO:0046983)|syndecan binding (GO:0045545)	p.A526T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Dalteparin(DB06779)|Heparin(DB01109)	TATGAGAAAGCTGGCAAGCCC	0.388																																						uc003hoj.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1576-1578)GCT>ACT		heparanase precursor	Heparin(DB01109)						92.0	97.0	95.0					4																	84216553		2203	4300	6503	SO:0001583	missense	10855				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding	g.chr4:84216553C>T	AF144325	CCDS3602.1, CCDS54774.1, CCDS56337.1	4q21.3	2008-02-05			ENSG00000173083	ENSG00000173083			5164	protein-coding gene	gene with protein product		604724				10395325, 10395326	Standard	NM_006665		Approved	HPA, HSE1, HPSE1	uc003hoj.4	Q9Y251	OTTHUMG00000130425	ENST00000405413.2:c.1576G>A	4.37:g.84216553C>T	ENSP00000384262:p.Ala526Thr					uc003hoi.2_5'Flank|HPSE_uc010ika.2_Missense_Mutation_p.A468T|HPSE_uc011ccq.1_RNA|HPSE_uc011ccr.1_RNA|HPSE_uc011ccs.1_Missense_Mutation_p.A269T|HPSE_uc011cct.1_Missense_Mutation_p.A452T|HPSE_uc003hok.3_Missense_Mutation_p.A526T	p.A526T	NM_001098540	NP_001092010	Q9Y251	HPSE_HUMAN		COAD - Colon adenocarcinoma(81;0.141)	12	1675	-		Hepatocellular(203;0.114)	526					A9JIG7|C7F7I3|C7F7I4|E9PCA9|E9PGR1|Q53GE5|Q9UL39	Missense_Mutation	SNP	ENST00000405413.2	37	c.1576G>A	CCDS3602.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525252	0.64747	.	.	ENSG00000173083	ENST00000311412;ENST00000405413;ENST00000512196;ENST00000513463	T;T;T;T	0.48201	0.82;0.82;0.82;0.86	5.39	-1.4	0.08968	.	0.393563	0.30356	N	0.009820	T	0.67069	0.2854	M	0.76002	2.32	0.41232	D	0.986581	D;D;D;D	0.65815	0.993;0.991;0.995;0.995	P;P;D;P	0.64687	0.823;0.848;0.928;0.848	T	0.75897	-0.3155	10	0.59425	D	0.04	-1.1901	22.3818	0.99971	0.0:0.2883:0.7116:0.0	.	452;468;468;526	E9PCA9;A9JIG7;E9PGR1;Q9Y251	.;.;.;HPSE_HUMAN	T	526;526;452;468	ENSP00000308107:A526T;ENSP00000384262:A526T;ENSP00000423265:A452T;ENSP00000421365:A468T	ENSP00000308107:A526T	A	-	1	0	HPSE	84435577	0.022000	0.18835	0.853000	0.33588	0.964000	0.63967	-0.213000	0.09305	-0.153000	0.11137	0.467000	0.42956	GCT		PASS	0.388	HPSE-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252812.2	NM_006665		54	65	54	65	---	---	---	---
CXXC4	80319	broad.mit.edu	37	4	105393508	105393508	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:105393508T>A	ENST00000426831.1	-	2	582	c.568A>T	c.(568-570)Agc>Tgc	p.S190C	CXXC4_ENST00000466963.1_5'UTR|CXXC4_ENST00000394767.2_Missense_Mutation_p.S359C			Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	190					negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)|zygotic specification of dorsal/ventral axis (GO:0007352)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)	DNA binding (GO:0003677)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)	p.S190C(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GCTTCAGCGCTGGGAACAGGT	0.333																																						uc003hxg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(568-570)AGC>TGC		CXXC finger 4							100.0	105.0	103.0					4																	105393508		2202	4299	6501	SO:0001583	missense	80319				negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding	g.chr4:105393508T>A		CCDS3665.1, CCDS3665.2	4q22-q24	2014-02-18	2011-12-01		ENSG00000168772	ENSG00000168772			24593	protein-coding gene	gene with protein product	"""Dvl-binding protein IDAX (inhibition of the Dvl and Axin complex)"""	611645				11113207	Standard	NM_025212		Approved	IDAX	uc003hxf.2	Q9H2H0	OTTHUMG00000131121	ENST00000426831.1:c.568A>T	4.37:g.105393508T>A	ENSP00000412267:p.Ser190Cys					uc003hxf.1_5'Flank|CXXC4_uc010ilo.2_RNA	p.S190C	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)	2	583	-			190						Missense_Mutation	SNP	ENST00000426831.1	37	c.568A>T		.	.	.	.	.	.	.	.	.	.	T	12.84	2.059954	0.36373	.	.	ENSG00000168772	ENST00000394767;ENST00000426831	.	.	.	5.36	5.36	0.76844	.	0.689071	0.14662	N	0.305901	T	0.66557	0.2801	L	0.29908	0.895	0.44985	D	0.998001	D	0.69078	0.997	D	0.70935	0.971	T	0.68213	-0.5468	9	0.72032	D	0.01	-0.3584	15.3495	0.74370	0.0:0.0:0.0:1.0	.	190	Q9H2H0	CXXC4_HUMAN	C	190	.	ENSP00000378248:S190C	S	-	1	0	CXXC4	105612957	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.505000	0.66981	2.028000	0.59812	0.533000	0.62120	AGC		PASS	0.333	CXXC4-201	KNOWN	basic	protein_coding	protein_coding		NM_025212		61	86	61	86	---	---	---	---
ZGRF1	55345	broad.mit.edu	37	4	113540355	113540355	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:113540355T>C	ENST00000505019.1	-	6	968	c.843A>G	c.(841-843)aaA>aaG	p.K281K	C4orf21_ENST00000445203.2_Silent_p.K250K|C4orf21_ENST00000309071.5_Silent_p.K281K	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		281						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.K281K(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CTTGTGGTTGTTTTTGAGGAA	0.373																																						uc003iau.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(841-843)AAA>AAG		prematurely terminated mRNA decay factor-like							112.0	113.0	113.0					4																	113540355		2203	4300	6503	SO:0001819	synonymous_variant	55345					integral to membrane	zinc ion binding	g.chr4:113540355T>C																												ENST00000505019.1:c.843A>G	4.37:g.113540355T>C						C4orf21_uc003iaw.2_Silent_p.K281K	p.K281K	NM_018392	NP_060862	Q6ZU11	YD002_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000676)	6	1054	-		Ovarian(17;0.156)	Error:Variant_position_missing_in_Q6ZU11_after_alignment					B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37	c.843A>G																																																																																					PASS	0.373	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1			87	110	87	110	---	---	---	---
BBS7	55212	broad.mit.edu	37	4	122749310	122749310	+	Silent	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:122749310T>G	ENST00000264499.4	-	18	2188	c.2005A>C	c.(2005-2007)Aga>Cga	p.R669R	BBS7_ENST00000506636.1_Silent_p.R669R	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	669					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)	p.R669R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCATAGAGTCTTTCAAGATGT	0.393									Bardet-Biedl syndrome																													uc003ied.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(2005-2007)AGA>CGA		Bardet-Biedl syndrome 7 protein isoform a							217.0	216.0	217.0					4																	122749310		2203	4300	6503	SO:0001819	synonymous_variant	55212	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122749310T>G	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.2005A>C	4.37:g.122749310T>G						BBS7_uc003iee.1_Silent_p.R669R	p.R669R	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN			18	2179	-			669					Q4W5P8|Q8N581|Q9NVI4	Silent	SNP	ENST00000264499.4	37	c.2005A>C	CCDS3724.1																																																																																				PASS	0.393	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			77	121	77	121	---	---	---	---
SMAD1	4086	broad.mit.edu	37	4	146461124	146461124	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:146461124G>C	ENST00000515385.1	+	3	1111	c.569G>C	c.(568-570)aGc>aCc	p.S190T	SMAD1_ENST00000302085.4_Missense_Mutation_p.S190T|SMAD1_ENST00000394092.2_Missense_Mutation_p.S190T			Q15797	SMAD1_HUMAN	SMAD family member 1	190					BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle cell proliferation (GO:0060038)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|embryonic pattern specification (GO:0009880)|gamete generation (GO:0007276)|hindbrain development (GO:0030902)|homeostatic process (GO:0042592)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|mesodermal cell fate commitment (GO:0001710)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|osteoblast fate commitment (GO:0002051)|positive regulation of cartilage development (GO:0061036)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of gene expression (GO:0010628)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|primary miRNA processing (GO:0031053)|protein phosphorylation (GO:0006468)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|signal transduction (GO:0007165)|SMAD protein complex assembly (GO:0007183)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|mitochondrion (GO:0005739)|nuclear inner membrane (GO:0005637)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	co-SMAD binding (GO:0070410)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)	p.S190T(1)		endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TCTCCCAATAGCAGTTACCCA	0.537																																					Pancreas(182;1287 2092 10326 35158 50562)	uc003ikc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(568-570)AGC>ACC		Sma- and Mad-related protein 1							104.0	85.0	92.0					4																	146461124		2203	4300	6503	SO:0001583	missense	4086				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr4:146461124G>C	U59423	CCDS3765.1	4q31.21	2013-10-22	2006-11-06	2004-05-26	ENSG00000170365	ENSG00000170365		"""SMADs"""	6767	protein-coding gene	gene with protein product		601595	"""MAD, mothers against decapentaplegic homolog 1 (Drosophila)"", ""SMAD, mothers against DPP homolog 1 (Drosophila)"""	MADH1		8653785, 8673135	Standard	NM_005900		Approved	MADR1, JV4-1	uc003ikc.3	Q15797	OTTHUMG00000161592	ENST00000515385.1:c.569G>C	4.37:g.146461124G>C	ENSP00000426568:p.Ser190Thr					SMAD1_uc003ikd.2_Missense_Mutation_p.S190T|SMAD1_uc010iov.2_Missense_Mutation_p.S190T|SMAD1_uc011cic.1_Missense_Mutation_p.S190T|SMAD1_uc003ikf.2_RNA	p.S190T	NM_005900	NP_005891	Q15797	SMAD1_HUMAN			3	985	+	all_hematologic(180;0.151)		190					A8KAJ0|D3DNZ9|Q16636|Q9UFT8	Missense_Mutation	SNP	ENST00000515385.1	37	c.569G>C	CCDS3765.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411139	0.42817	.	.	ENSG00000170365	ENST00000302085;ENST00000394092;ENST00000515385	D;D;D	0.95788	-3.81;-3.81;-3.81	5.92	5.06	0.68205	.	0.186910	0.64402	D	0.000002	D	0.93180	0.7828	L	0.55481	1.735	0.58432	D	0.999999	B	0.02656	0.0	B	0.06405	0.002	D	0.90224	0.4274	10	0.16420	T	0.52	.	16.9066	0.86130	0.0:0.1281:0.8719:0.0	.	190	Q15797	SMAD1_HUMAN	T	190	ENSP00000305769:S190T;ENSP00000377652:S190T;ENSP00000426568:S190T	ENSP00000305769:S190T	S	+	2	0	SMAD1	146680574	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	4.828000	0.62730	1.460000	0.47911	0.655000	0.94253	AGC		PASS	0.537	SMAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365467.1	NM_005900		17	31	17	31	---	---	---	---
RXFP1	59350	broad.mit.edu	37	4	159547986	159547986	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:159547986A>G	ENST00000307765.5	+	10	1021	c.770A>G	c.(769-771)aAc>aGc	p.N257S	RXFP1_ENST00000448688.2_Intron|RXFP1_ENST00000460056.2_Missense_Mutation_p.N176S|RXFP1_ENST00000470033.1_Missense_Mutation_p.N224S|RXFP1_ENST00000343542.5_Missense_Mutation_p.N257S	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	257					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)	p.N257S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTTGAAGGCAACCATATCCAT	0.264																																						uc003ipz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)AAC>AGC		relaxin/insulin-like family peptide receptor 1							104.0	93.0	96.0					4																	159547986		1793	4045	5838	SO:0001583	missense	59350					integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	g.chr4:159547986A>G	AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.770A>G	4.37:g.159547986A>G	ENSP00000303248:p.Asn257Ser					RXFP1_uc010iqj.1_Missense_Mutation_p.N86S|RXFP1_uc011cja.1_Intron|RXFP1_uc010iqo.2_Missense_Mutation_p.N257S|RXFP1_uc011cjb.1_Missense_Mutation_p.N203S|RXFP1_uc010iqk.2_Missense_Mutation_p.N125S|RXFP1_uc011cjc.1_Missense_Mutation_p.N176S|RXFP1_uc011cjd.1_Missense_Mutation_p.N176S|RXFP1_uc010iql.2_Intron|RXFP1_uc011cje.1_Missense_Mutation_p.N284S|RXFP1_uc010iqm.2_Missense_Mutation_p.N224S|RXFP1_uc011cjf.1_Missense_Mutation_p.N127S|RXFP1_uc010iqn.2_Missense_Mutation_p.N203S	p.N257S	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN		COAD - Colon adenocarcinoma(41;0.0219)	10	852	+	all_hematologic(180;0.24)	Renal(120;0.0854)	257			Extracellular (Potential).|LRR 5.		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	ENST00000307765.5	37	c.770A>G	CCDS43276.1	.	.	.	.	.	.	.	.	.	.	A	19.07	3.755194	0.69648	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T	0.72615	2.92;-0.67;-0.67;-0.67	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	D	0.85669	0.5750	M	0.88512	2.96	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.996;0.992;0.997;0.998;0.999;0.996	D	0.88177	0.2868	10	0.72032	D	0.01	.	12.984	0.58581	1.0:0.0:0.0:0.0	.	268;284;257;224;127;194;257	B3KV27;B4DGP2;Q9HBX9-4;Q9HBX9-2;Q59H16;Q4W5D9;Q9HBX9	.;.;.;.;.;.;RXFP1_HUMAN	S	176;257;257;224;127	ENSP00000423306:N176S;ENSP00000303248:N257S;ENSP00000345889:N257S;ENSP00000420712:N224S	ENSP00000303248:N257S	N	+	2	0	RXFP1	159767436	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.463000	0.66712	2.104000	0.64026	0.455000	0.32223	AAC		PASS	0.264	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314865.1	NM_021634		24	37	24	37	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162421275	162421275	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:162421275C>A	ENST00000306100.5	-	12	1787	c.1351G>T	c.(1351-1353)Ggg>Tgg	p.G451W	FSTL5_ENST00000536695.1_Missense_Mutation_p.G450W|FSTL5_ENST00000379164.4_Missense_Mutation_p.G450W|FSTL5_ENST00000427802.2_Missense_Mutation_p.G441W	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	451						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G451W(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		AACATGTTCCCAATTCCCAGA	0.333																																						uc003iqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1351-1353)GGG>TGG		follistatin-like 5 isoform a							76.0	69.0	71.0					4																	162421275		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162421275C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1351G>T	4.37:g.162421275C>A	ENSP00000305334:p.Gly451Trp					FSTL5_uc003iqi.2_Missense_Mutation_p.G450W|FSTL5_uc010iqv.2_Missense_Mutation_p.G441W	p.G451W	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	12	1787	-	all_hematologic(180;0.24)		451					E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1351G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168955	0.78339	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.74209	-0.72;-0.7;-0.82;-0.7	5.29	5.29	0.74685	.	0.098468	0.64402	D	0.000001	D	0.84647	0.5518	M	0.66939	2.045	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.993	D;D;P	0.66979	0.936;0.948;0.887	D	0.85757	0.1347	10	0.66056	D	0.02	.	17.875	0.88822	0.0:1.0:0.0:0.0	.	441;450;451	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	W	451;450;441;450	ENSP00000305334:G451W;ENSP00000368462:G450W;ENSP00000389270:G441W;ENSP00000440409:G450W	ENSP00000305334:G451W	G	-	1	0	FSTL5	162640725	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.445000	0.80570	2.627000	0.88993	0.563000	0.77884	GGG		PASS	0.333	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		7	13	7	13	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169173723	169173723	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:169173723T>C	ENST00000393743.3	-	27	3933	c.3642A>G	c.(3640-3642)ctA>ctG	p.L1214L	DDX60_ENST00000505393.1_5'Flank	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1214					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.L1214L(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GGTTCTTCTCTAGACACTTCA	0.388																																						uc003irp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(3640-3642)CTA>CTG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							271.0	254.0	260.0					4																	169173723		2203	4300	6503	SO:0001819	synonymous_variant	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169173723T>C	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.3642A>G	4.37:g.169173723T>C							p.L1214L	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	27	3934	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1214					Q6PK35|Q9NVE3	Silent	SNP	ENST00000393743.3	37	c.3642A>G	CCDS34097.1																																																																																				PASS	0.388	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		117	143	117	143	---	---	---	---
GALNTL6	442117	broad.mit.edu	37	4	173269755	173269755	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:173269755C>A	ENST00000506823.1	+	5	1125	c.468C>A	c.(466-468)ctC>ctA	p.L156L	GALNTL6_ENST00000508122.1_Silent_p.L139L|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 6	156	Catalytic subdomain A.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.L156L(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						GGACTTCACTCCTGCGGACCA	0.428																																						uc003isv.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|skin(1)	4						c.(466-468)CTC>CTA		N-acetylgalactosaminyltransferase-like 6							145.0	135.0	139.0					4																	173269755		2203	4300	6503	SO:0001819	synonymous_variant	442117					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr4:173269755C>A		CCDS34104.1	4q34.1	2014-03-13	2014-03-13		ENSG00000174473	ENSG00000174473		"""Glycosyltransferase family 2 domain containing"""	33844	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 6"""	615138	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6"""				Standard	NM_001034845		Approved	GALNT17, GalNAc-T6L	uc003isv.3	Q49A17	OTTHUMG00000160807	ENST00000506823.1:c.468C>A	4.37:g.173269755C>A							p.L156L	NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN			5	1204	+			156			Catalytic subdomain A.|Lumenal (Potential).		Q2L4S6	Silent	SNP	ENST00000506823.1	37	c.468C>A	CCDS34104.1																																																																																				PASS	0.428	GALNTL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362395.1	NM_001034845		75	87	75	87	---	---	---	---
ASB5	140458	broad.mit.edu	37	4	177138028	177138028	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:177138028C>A	ENST00000296525.3	-	6	916	c.803G>T	c.(802-804)cGa>cTa	p.R268L	ASB5_ENST00000512254.1_Missense_Mutation_p.R215L	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	268					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.R268L(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		ATCTATAGGTCGCAGAAGCTC	0.368																																						uc003iuq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(802-804)CGA>CTA		ankyrin repeat and SOCS box-containing protein							190.0	179.0	183.0					4																	177138028		2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177138028C>A	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.803G>T	4.37:g.177138028C>A	ENSP00000296525:p.Arg268Leu					ASB5_uc003iup.1_Missense_Mutation_p.R215L	p.R268L	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	6	819	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	268					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.803G>T	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.863201	0.71949	.	.	ENSG00000164122	ENST00000296525;ENST00000512254	T;T	0.51574	0.7;0.7	5.45	5.45	0.79879	Ankyrin repeat-containing domain (3);	0.048523	0.85682	D	0.000000	T	0.41696	0.1170	N	0.19112	0.55	0.49299	D	0.99977	P;D	0.52996	0.911;0.957	B;P	0.48982	0.412;0.597	T	0.39722	-0.9600	10	0.72032	D	0.01	-23.8819	12.9391	0.58333	0.0:0.9256:0.0:0.0744	.	268;215	Q8WWX0;Q8N7B5	ASB5_HUMAN;.	L	268;215	ENSP00000296525:R268L;ENSP00000422877:R215L	ENSP00000296525:R268L	R	-	2	0	ASB5	177375022	1.000000	0.71417	0.999000	0.59377	0.785000	0.44390	4.342000	0.59341	2.712000	0.92718	0.591000	0.81541	CGA		PASS	0.368	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			44	83	44	83	---	---	---	---
PLEKHG4B	153478	broad.mit.edu	37	5	162987	162987	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:162987G>C	ENST00000283426.6	+	11	1782	c.1732G>C	c.(1732-1734)Ggg>Cgg	p.G578R		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	578							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G578R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCATGCCCTGGGGAAACCGTG	0.647																																						uc003jak.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1732-1734)GGG>CGG		pleckstrin homology domain containing, family G							30.0	31.0	30.0					5																	162987		2176	4286	6462	SO:0001583	missense	153478				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr5:162987G>C	BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1732G>C	5.37:g.162987G>C	ENSP00000283426:p.Gly578Arg						p.G578R	NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)	11	1782	+			578						Missense_Mutation	SNP	ENST00000283426.6	37	c.1732G>C	CCDS34124.1	.	.	.	.	.	.	.	.	.	.	G	6.922	0.539773	0.13250	.	.	ENSG00000153404	ENST00000283426	D	0.92545	-3.06	2.71	1.81	0.25067	.	.	.	.	.	D	0.83362	0.5238	N	0.25485	0.75	0.26044	N	0.981561	B	0.02656	0.0	B	0.01281	0.0	T	0.65841	-0.6070	9	0.12766	T	0.61	.	7.4164	0.27047	0.0:0.2722:0.7278:0.0	.	578	Q96PX9	PKH4B_HUMAN	R	578	ENSP00000283426:G578R	ENSP00000283426:G578R	G	+	1	0	PLEKHG4B	215987	0.359000	0.24955	0.005000	0.12908	0.002000	0.02628	2.400000	0.44504	0.131000	0.18576	-0.463000	0.05309	GGG		PASS	0.647	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365359.1	NM_052909		6	9	6	9	---	---	---	---
TAS2R1	50834	broad.mit.edu	37	5	9629767	9629767	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:9629767G>A	ENST00000382492.2	-	1	696	c.378C>T	c.(376-378)gtC>gtT	p.V126V	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	126					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.V126V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						TCATCCATGGGACCAGCTTGG	0.458																																						uc003jem.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(376-378)GTC>GTT		taste receptor T2R1							45.0	48.0	47.0					5																	9629767		2203	4300	6503	SO:0001819	synonymous_variant	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629767G>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.378C>T	5.37:g.9629767G>A							p.V126V	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			1	697	-			126			Helical; Name=4; (Potential).		Q646G8	Silent	SNP	ENST00000382492.2	37	c.378C>T	CCDS3876.1																																																																																				PASS	0.458	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2			28	65	28	65	---	---	---	---
FAM173B	134145	broad.mit.edu	37	5	10239306	10239306	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:10239306G>C	ENST00000511437.1	-	2	191	c.179C>G	c.(178-180)aCg>aGg	p.T60R	FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.T60R	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	60						integral component of membrane (GO:0016021)		p.T60R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						AAGGGCTGGCGTTACAAACGG	0.502																																						uc003jeo.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|central_nervous_system(1)	2						c.(178-180)ACG>AGG		hypothetical protein LOC134145							107.0	108.0	107.0					5																	10239306		2034	4172	6206	SO:0001583	missense	134145					integral to membrane		g.chr5:10239306G>C		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.179C>G	5.37:g.10239306G>C	ENSP00000422338:p.Thr60Arg					FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.T60R	p.T60R	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN			2	208	-			60					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.179C>G	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	G	13.55	2.270444	0.40194	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.21543	2.0;2.0	5.19	3.4	0.38934	.	0.233746	0.46145	D	0.000312	T	0.36880	0.0983	M	0.69823	2.125	0.09310	N	0.999991	D;P	0.58620	0.983;0.928	P;P	0.55824	0.785;0.683	T	0.18840	-1.0324	10	0.72032	D	0.01	-13.9248	11.3643	0.49662	0.1401:0.0:0.8599:0.0	.	60;60	E9PBZ4;Q6P4H8	.;F173B_HUMAN	R	60	ENSP00000422338:T60R;ENSP00000420876:T60R	ENSP00000424210:T60R	T	-	2	0	FAM173B	10292306	0.933000	0.31639	0.004000	0.12327	0.168000	0.22595	5.328000	0.65887	0.579000	0.29504	0.655000	0.94253	ACG		PASS	0.502	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		16	146	16	146	---	---	---	---
PRDM9	56979	broad.mit.edu	37	5	23521285	23521285	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:23521285C>A	ENST00000296682.3	+	6	687	c.505C>A	c.(505-507)Ctg>Atg	p.L169M		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	169					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)	p.L169M(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAGACTAAAACTGGGTAAGAA	0.463										HNSCC(3;0.000094)																												uc003jgo.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|pancreas(1)	6						c.(505-507)CTG>ATG		PR domain containing 9							91.0	89.0	89.0					5																	23521285		1821	4078	5899	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23521285C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.505C>A	5.37:g.23521285C>A	ENSP00000296682:p.Leu169Met	HNSCC(3;0.000094)					p.L169M	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			6	687	+			169					B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.505C>A	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	C	11.21	1.570254	0.28003	.	.	ENSG00000164256	ENST00000296682	T	0.09163	3.01	3.31	-6.61	0.01818	.	.	.	.	.	T	0.10637	0.0260	L	0.44542	1.39	0.09310	N	1	P	0.50617	0.937	P	0.46110	0.504	T	0.06625	-1.0816	9	0.87932	D	0	-0.553	9.4284	0.38595	0.0:0.6158:0.2427:0.1415	.	169	Q9NQV7	PRDM9_HUMAN	M	169	ENSP00000296682:L169M	ENSP00000296682:L169M	L	+	1	2	PRDM9	23557042	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	-2.062000	0.01390	-2.444000	0.00548	-0.512000	0.04463	CTG		PASS	0.463	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227		76	64	76	64	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26881478	26881478	+	Nonsense_Mutation	SNP	G	G	A	rs113264250		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:26881478G>A	ENST00000231021.4	-	12	2309	c.2137C>T	c.(2137-2139)Caa>Taa	p.Q713*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	713					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.Q713*(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						ATAAAATCTTGTACATCAATA	0.418																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)	9						c.(2137-2139)CAA>TAA		cadherin 9, type 2 preproprotein							156.0	148.0	151.0					5																	26881478		2203	4300	6503	SO:0001587	stop_gained	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26881478G>A	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.2137C>T	5.37:g.26881478G>A	ENSP00000231021:p.Gln713*					CDH9_uc011cnv.1_Nonsense_Mutation_p.Q306*	p.Q713*	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			12	2306	-			713			Cytoplasmic (Potential).		Q3B7I5	Nonsense_Mutation	SNP	ENST00000231021.4	37	c.2137C>T	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	G	39	7.410920	0.98269	.	.	ENSG00000113100	ENST00000231021	.	.	.	5.06	5.06	0.68205	.	0.049274	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3626	0.87355	0.0:0.0:1.0:0.0	.	.	.	.	X	713	.	.	Q	-	1	0	CDH9	26917235	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.971000	0.49248	2.504000	0.84457	0.557000	0.71058	CAA		PASS	0.418	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		128	123	128	123	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32380216	32380216	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:32380216C>A	ENST00000265069.8	-	16	2806	c.2704G>T	c.(2704-2706)Gct>Tct	p.A902S	AC008949.1_ENST00000411029.1_RNA|ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	902	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A902T(2)|p.A902S(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		GCAGCCAGAGCGTCAAGGCAT	0.448																																						uc003jhr.1																			3	Substitution - Missense(3)		large_intestine(1)|lung(1)|endometrium(1)		0						c.(2704-2706)GCT>TCT		zinc finger RNA binding protein							120.0	98.0	106.0					5																	32380216		2203	4300	6503	SO:0001583	missense	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32380216C>A	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2704G>T	5.37:g.32380216C>A	ENSP00000265069:p.Ala902Ser					ZFR_uc010ium.1_Missense_Mutation_p.A33S|ZFR_uc011cny.1_Intron	p.A902S	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	16	2784	-			902			DZF.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Missense_Mutation	SNP	ENST00000265069.8	37	c.2704G>T	CCDS34139.1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.859961	0.32884	.	.	ENSG00000056097	ENST00000265069;ENST00000382126	T	0.45276	0.9	5.49	5.49	0.81192	DZF (2);	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	L	0.52206	1.635	0.80722	D	1	D;D	0.76494	0.99;0.999	P;D	0.85130	0.884;0.997	T	0.52704	-0.8540	10	0.31617	T	0.26	.	19.7239	0.96154	0.0:1.0:0.0:0.0	.	880;902	B5MEH6;Q96KR1	.;ZFR_HUMAN	S	902;880	ENSP00000265069:A902S	ENSP00000265069:A902S	A	-	1	0	ZFR	32415973	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.869000	0.69613	2.712000	0.92718	0.585000	0.79938	GCT		PASS	0.448	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			65	98	65	98	---	---	---	---
ADAMTS12	81792	broad.mit.edu	37	5	33576688	33576688	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:33576688G>T	ENST00000504830.1	-	19	3778	c.3443C>A	c.(3442-3444)aCc>aAc	p.T1148N	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1063N|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1148	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.T1148N(1)|p.T1148I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGACCTTTGGTCAAGGTATT	0.473										HNSCC(64;0.19)																												uc003jia.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)	9						c.(3442-3444)ACC>AAC		ADAM metallopeptidase with thrombospondin type 1							118.0	110.0	113.0					5																	33576688		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576688G>T	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3443C>A	5.37:g.33576688G>T	ENSP00000422554:p.Thr1148Asn	HNSCC(64;0.19)				ADAMTS12_uc010iuq.1_Missense_Mutation_p.T1063N	p.T1148N	NM_030955	NP_112217	P58397	ATS12_HUMAN			19	3606	-			1148			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3443C>A	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.700803	0.48307	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60424	0.21;0.19	5.33	4.45	0.53987	.	0.618268	0.17109	N	0.186695	T	0.58061	0.2096	L	0.34521	1.04	0.80722	D	1	D;P	0.56746	0.977;0.933	P;B	0.53593	0.73;0.386	T	0.54070	-0.8348	10	0.30854	T	0.27	.	14.4843	0.67606	0.0:0.1465:0.8535:0.0	.	1063;1148	P58397-3;P58397	.;ATS12_HUMAN	N	1148;1063	ENSP00000422554:T1148N;ENSP00000344847:T1063N	ENSP00000344847:T1063N	T	-	2	0	ADAMTS12	33612445	0.738000	0.28186	0.970000	0.41538	0.863000	0.49368	2.803000	0.47924	1.456000	0.47831	0.655000	0.94253	ACC		PASS	0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		51	166	51	166	---	---	---	---
RAI14	26064	broad.mit.edu	37	5	34811911	34811911	+	Silent	SNP	C	C	T	rs143309351		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:34811911C>T	ENST00000265109.3	+	9	884	c.597C>T	c.(595-597)aaC>aaT	p.N199N	RAI14_ENST00000512629.1_Silent_p.N199N|RAI14_ENST00000397449.1_Silent_p.N192N|RAI14_ENST00000503673.1_Silent_p.N199N|RAI14_ENST00000515799.1_Silent_p.N202N|RAI14_ENST00000506376.1_Silent_p.N191N|RAI14_ENST00000428746.2_Silent_p.N199N	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	199						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.N199N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					GCAGCTCTAACGCTGTGGAAG	0.388																																						uc003jir.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(595-597)AAC>AAT		retinoic acid induced 14 isoform a		C	,,,,,	1,4405	2.1+/-5.4	0,1,2202	65.0	68.0	67.0		597,597,597,573,606,597	2.5	0.3	5	dbSNP_134	67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RAI14	NM_001145520.1,NM_001145521.1,NM_001145522.1,NM_001145523.1,NM_001145525.1,NM_015577.2	,,,,,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,,,,,	199/981,199/981,199/952,191/973,202/984,199/981	34811911	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34811911C>T	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.597C>T	5.37:g.34811911C>T						RAI14_uc010iur.2_Silent_p.N199N|RAI14_uc011coj.1_Silent_p.N199N|RAI14_uc010ius.1_Silent_p.N128N|RAI14_uc003jis.2_Silent_p.N202N|RAI14_uc003jit.2_Silent_p.N199N|RAI14_uc011cok.1_Silent_p.N191N	p.N199N	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			9	793	+	all_lung(31;0.000191)		199			ANK 6.		E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	c.597C>T	CCDS34142.1																																																																																				PASS	0.388	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577		12	169	12	169	---	---	---	---
UGT3A2	167127	broad.mit.edu	37	5	36049139	36049139	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:36049139C>T	ENST00000282507.3	-	4	796	c.695G>A	c.(694-696)gGc>gAc	p.G232D	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.G198D	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	232					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.G232D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGCCTAGAGCCTTCTGTGAA	0.438																																						uc003jjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(694-696)GGC>GAC		UDP glycosyltransferase 3 family, polypeptide A2							148.0	149.0	148.0					5																	36049139		2203	4300	6503	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36049139C>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.695G>A	5.37:g.36049139C>T	ENSP00000282507:p.Gly232Asp					UGT3A2_uc011cos.1_Missense_Mutation_p.G198D|UGT3A2_uc011cot.1_Intron	p.G232D	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		4	788	-	all_lung(31;0.000179)		232			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.695G>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	C	8.565	0.878582	0.17395	.	.	ENSG00000168671	ENST00000282507;ENST00000513300	T;T	0.57595	0.39;0.39	3.45	0.698	0.18087	.	0.236601	0.33631	N	0.004707	T	0.36799	0.0980	L	0.27053	0.805	0.80722	D	1	B;B	0.18310	0.002;0.027	B;B	0.27170	0.018;0.077	T	0.10543	-1.0625	10	0.44086	T	0.13	.	8.5691	0.33558	0.0:0.7197:0.0:0.2803	.	198;232	E9PFK7;Q3SY77	.;UD3A2_HUMAN	D	232;198	ENSP00000282507:G232D;ENSP00000427404:G198D	ENSP00000282507:G232D	G	-	2	0	UGT3A2	36084896	0.370000	0.25047	0.872000	0.34217	0.264000	0.26372	0.586000	0.23894	0.128000	0.18479	-0.137000	0.14449	GGC		PASS	0.438	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		38	206	38	206	---	---	---	---
C6	729	broad.mit.edu	37	5	41181661	41181661	+	Splice_Site	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:41181661C>A	ENST00000263413.3	-	7	991	c.727G>T	c.(727-729)Gta>Tta	p.V243L	C6_ENST00000337836.5_Splice_Site_p.V243L|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	243	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.V243L(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GCAGTTTGTACCTGGAGAAAA	0.343																																						uc003jmk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(727-729)GTA>TTA		complement component 6 precursor							35.0	35.0	35.0					5																	41181661		2202	4300	6502	SO:0001630	splice_region_variant	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41181661C>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.727-1G>T	5.37:g.41181661C>A						C6_uc003jml.1_Missense_Mutation_p.V243L	p.V243L	NM_000065	NP_000056	P13671	CO6_HUMAN			7	937	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	243			MACPF.			Missense_Mutation	SNP	ENST00000263413.3	37	c.727G>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921477	0.33908	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.61980	0.06;0.06	5.96	5.1	0.69264	Membrane attack complex component/perforin (MACPF) domain (1);	0.055703	0.64402	D	0.000001	T	0.57021	0.2025	M	0.66939	2.045	0.54753	D	0.999982	P	0.36647	0.563	B	0.33750	0.169	T	0.57112	-0.7867	10	0.33940	T	0.23	-14.7513	10.6776	0.45796	0.0:0.7999:0.1315:0.0686	.	243	P13671	CO6_HUMAN	L	243	ENSP00000338861:V243L;ENSP00000263413:V243L	ENSP00000263413:V243L	V	-	1	0	C6	41217418	1.000000	0.71417	0.989000	0.46669	0.402000	0.30811	2.687000	0.46976	1.538000	0.49270	0.650000	0.86243	GTA		PASS	0.343	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1		Missense_Mutation	27	62	27	62	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63256745	63256745	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:63256745C>A	ENST00000323865.3	-	1	1035	c.802G>T	c.(802-804)Gag>Tag	p.E268*	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	268					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.E268*(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GCCTTGCTCTCCACGCCCAGC	0.667																																						uc011cqt.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(802-804)GAG>TAG		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						54.0	50.0	51.0					5																	63256745		2203	4300	6503	SO:0001587	stop_gained	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63256745C>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.802G>T	5.37:g.63256745C>A	ENSP00000316244:p.Glu268*						p.E268*	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	802	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	268			Cytoplasmic (By similarity).		Q6LAE7	Nonsense_Mutation	SNP	ENST00000323865.3	37	c.802G>T	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825737	0.90955	.	.	ENSG00000178394	ENST00000323865	.	.	.	5.17	4.29	0.51040	.	0.297271	0.30528	N	0.009427	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	14.7151	0.69262	0.0:0.8544:0.1456:0.0	.	.	.	.	X	268	.	ENSP00000316244:E268X	E	-	1	0	HTR1A	63292501	0.994000	0.37717	0.082000	0.20525	0.443000	0.32047	3.130000	0.50508	1.373000	0.46208	0.655000	0.94253	GAG		PASS	0.667	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		39	64	39	64	---	---	---	---
CCNB1	891	broad.mit.edu	37	5	68470110	68470110	+	Silent	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:68470110G>C	ENST00000256442.5	+	5	832	c.579G>C	c.(577-579)ctG>ctC	p.L193L	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	193					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)	p.L193L(1)		large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AATACCTACTGGGTCGGGAAG	0.418																																						uc003jvm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(577-579)CTG>CTC		cyclin B1							170.0	158.0	162.0					5																	68470110		2203	4300	6503	SO:0001819	synonymous_variant	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68470110G>C	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.579G>C	5.37:g.68470110G>C						CCNB1_uc011crd.1_Silent_p.L193L|CCNB1_uc010ixb.2_Silent_p.L193L	p.L193L	NM_031966	NP_114172	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	5	756	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	193					A8K066|Q5TZP9	Silent	SNP	ENST00000256442.5	37	c.579G>C	CCDS3997.1																																																																																				PASS	0.418	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		47	62	47	62	---	---	---	---
ERAP2	64167	broad.mit.edu	37	5	96235862	96235862	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:96235862G>T	ENST00000437043.3	+	10	2252	c.1541G>T	c.(1540-1542)tGt>tTt	p.C514F	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.C469F|ERAP2_ENST00000515095.1_3'UTR	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	514					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C514F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGTGGAGTTTGTCATTCGGAT	0.403																																						uc003kmq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1540-1542)TGT>TTT		endoplasmic reticulum aminopeptidase 2							262.0	238.0	246.0					5																	96235862		2203	4300	6503	SO:0001583	missense	64167				antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr5:96235862G>T	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.1541G>T	5.37:g.96235862G>T	ENSP00000400376:p.Cys514Phe					uc003kmo.1_Intron|ERAP2_uc003kmt.2_Missense_Mutation_p.C514F|ERAP2_uc003kmr.2_RNA|ERAP2_uc003kms.2_Missense_Mutation_p.C463F|ERAP2_uc003kmu.2_RNA	p.C514F	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN		COAD - Colon adenocarcinoma(37;0.0703)	10	2251	+		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)	514			Lumenal (Potential).		Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	ENST00000437043.3	37	c.1541G>T	CCDS4086.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780016	0.49891	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904	T;T;T;T	0.02812	5.06;4.69;4.15;5.07	3.5	2.63	0.31362	.	2.929910	0.01293	N	0.010079	T	0.03220	0.0094	N	0.19112	0.55	0.80722	D	1	B;P	0.46142	0.331;0.873	B;P	0.46975	0.276;0.533	T	0.59429	-0.7456	10	0.02654	T	1	.	7.0311	0.24967	0.1249:0.0:0.8751:0.0	.	469;514	Q6P179-3;Q6P179	.;ERAP2_HUMAN	F	514;514;514;469	ENSP00000400376:C514F;ENSP00000421175:C514F;ENSP00000421849:C514F;ENSP00000369235:C469F	ENSP00000369235:C469F	C	+	2	0	ERAP2	96261618	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	2.201000	0.42734	1.043000	0.40175	0.563000	0.77884	TGT		PASS	0.403	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250623.2	NM_022350		54	81	54	81	---	---	---	---
GRAMD3	65983	broad.mit.edu	37	5	125816199	125816199	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:125816199T>G	ENST00000285689.3	+	7	1095	c.634T>G	c.(634-636)Tct>Gct	p.S212A	GRAMD3_ENST00000515200.1_Missense_Mutation_p.S189A|RP11-517I3.1_ENST00000515808.1_RNA|GRAMD3_ENST00000543198.1_Missense_Mutation_p.S189A|RP11-517I3.1_ENST00000512500.1_RNA|GRAMD3_ENST00000544396.1_Missense_Mutation_p.S108A|GRAMD3_ENST00000513040.1_Missense_Mutation_p.S227A|GRAMD3_ENST00000542322.1_Missense_Mutation_p.S220A|GRAMD3_ENST00000502348.1_Missense_Mutation_p.S103A|GRAMD3_ENST00000511134.1_Missense_Mutation_p.S196A	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	212						cytoplasmic microtubule (GO:0005881)		p.S212A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ACTACTAAAATCTGTGTGTGG	0.358																																						uc003ktu.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(634-636)TCT>GCT		GRAM domain containing 3 isoform 2							151.0	141.0	145.0					5																	125816199		2203	4300	6503	SO:0001583	missense	65983							g.chr5:125816199T>G	BC008590	CCDS4136.1, CCDS54891.1, CCDS54892.1, CCDS54893.1, CCDS54894.1	5q23.2	2014-02-12	2005-11-03		ENSG00000155324	ENSG00000155324			24911	protein-coding gene	gene with protein product	"""HCV NS3 transactivated protein 2"""					12477932	Standard	NM_023927		Approved	NS3TP2, FLJ21313	uc011cwt.2	Q96HH9	OTTHUMG00000128943	ENST00000285689.3:c.634T>G	5.37:g.125816199T>G	ENSP00000285689:p.Ser212Ala					GRAMD3_uc011cwt.1_Missense_Mutation_p.S227A|GRAMD3_uc011cwv.1_Missense_Mutation_p.S220A|GRAMD3_uc011cww.1_Missense_Mutation_p.S108A|GRAMD3_uc011cwx.1_RNA|GRAMD3_uc011cwy.1_Missense_Mutation_p.S103A|GRAMD3_uc011cwz.1_Missense_Mutation_p.S196A|GRAMD3_uc011cwu.1_Missense_Mutation_p.S196A	p.S212A	NM_023927	NP_076416	Q96HH9	GRAM3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)	7	1064	+		Prostate(80;0.0928)	212					B7Z1F2|B7Z3R1|B7Z6D8|B7Z8T2|D3DSZ3|Q9H753	Missense_Mutation	SNP	ENST00000285689.3	37	c.634T>G	CCDS4136.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399464	0.83120	.	.	ENSG00000155324	ENST00000513040;ENST00000506445;ENST00000543367;ENST00000285689;ENST00000515200;ENST00000542322;ENST00000544396;ENST00000543198;ENST00000502348;ENST00000511134	T;T;T;T;T;T;T;T;T	0.35048	1.33;1.38;1.33;1.36;1.35;1.37;1.37;1.39;1.34	6.08	6.08	0.98989	.	0.097708	0.64402	D	0.000001	T	0.55433	0.1920	L	0.58669	1.825	0.58432	D	0.999999	D;D;D;D;D	0.89917	0.998;1.0;1.0;0.995;0.998	D;D;D;D;D	0.83275	0.99;0.996;0.996;0.98;0.99	T	0.49597	-0.8923	10	0.28530	T	0.3	.	14.881	0.70534	0.0:0.0:0.0:1.0	.	196;108;220;227;212	B7Z8T2;B7Z1F2;B7Z3R1;B7Z6D8;Q96HH9	.;.;.;.;GRAM3_HUMAN	A	227;226;196;212;189;220;108;189;103;196	ENSP00000426120:S227A;ENSP00000424985:S226A;ENSP00000285689:S212A;ENSP00000426143:S189A;ENSP00000441876:S220A;ENSP00000444049:S108A;ENSP00000442902:S189A;ENSP00000427596:S103A;ENSP00000426088:S196A	ENSP00000285689:S212A	S	+	1	0	GRAMD3	125844098	1.000000	0.71417	0.846000	0.33378	0.897000	0.52465	5.473000	0.66774	2.333000	0.79357	0.482000	0.46254	TCT		PASS	0.358	GRAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250922.2	NM_023927		35	46	35	46	---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140432759	140432759	+	Missense_Mutation	SNP	C	C	A	rs137984585	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:140432759C>A	ENST00000306549.3	+	1	1781	c.1704C>A	c.(1702-1704)aaC>aaA	p.N568K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	568					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.N568K(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACTGCAGAACGGCACCTTGC	0.522																																						uc003lik.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1702-1704)AAC>AAA		protocadherin beta 1 precursor							111.0	100.0	104.0					5																	140432759		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140432759C>A	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.1704C>A	5.37:g.140432759C>A	ENSP00000307234:p.Asn568Lys						p.N568K	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1781	+			568			Extracellular (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.1704C>A	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383188	0.42207	.	.	ENSG00000171815	ENST00000306549	T	0.60797	0.16	5.94	2.38	0.29361	Cadherin-like (1);	0.000000	0.50627	D	0.000104	T	0.55081	0.1898	L	0.28054	0.825	0.31891	N	0.617182	D	0.61697	0.99	P	0.59357	0.856	T	0.61540	-0.7042	10	0.66056	D	0.02	.	7.9623	0.30079	0.0:0.28:0.0:0.72	.	568	Q9Y5F3	PCDB1_HUMAN	K	568	ENSP00000307234:N568K	ENSP00000307234:N568K	N	+	3	2	PCDHB1	140412943	0.035000	0.19736	1.000000	0.80357	0.971000	0.66376	-0.115000	0.10741	1.065000	0.40693	-0.415000	0.06103	AAC		PASS	0.522	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		37	51	37	51	---	---	---	---
PCDHB15	56121	broad.mit.edu	37	5	140625340	140625340	+	Missense_Mutation	SNP	G	G	T	rs200663077	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:140625340G>T	ENST00000231173.3	+	1	194	c.194G>T	c.(193-195)cGg>cTg	p.R65L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN	protocadherin beta 15	65	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.R65L(1)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGGGAGCCCGGGTAGTTTCT	0.552																																						uc003lje.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|skin(1)	5						c.(193-195)CGG>CTG		protocadherin beta 15 precursor							47.0	55.0	52.0					5																	140625340		2203	4300	6503	SO:0001583	missense	56121				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140625340G>T	AF152494	CCDS4257.1	5q31	2011-06-07			ENSG00000113248	ENSG00000113248		"""Cadherins / Protocadherins : Clustered"""	8686	other	protocadherin		606341				10380929	Standard	NM_018935		Approved	PCDH-BETA15	uc003lje.3	Q9Y5E8	OTTHUMG00000129609	ENST00000231173.3:c.194G>T	5.37:g.140625340G>T	ENSP00000231173:p.Arg65Leu						p.R65L	NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	194	+			65			Extracellular (Potential).|Cadherin 1.		Q8IUX5	Missense_Mutation	SNP	ENST00000231173.3	37	c.194G>T	CCDS4257.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.860972	0.51482	.	.	ENSG00000113248	ENST00000231173	T	0.38401	1.14	4.92	0.474	0.16768	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.69797	0.3151	H	0.98256	4.185	0.31386	N	0.678386	D	0.71674	0.998	D	0.74674	0.984	T	0.72268	-0.4343	9	0.87932	D	0	.	9.8284	0.40925	0.4455:0.0:0.5545:0.0	.	65	Q9Y5E8	PCDBF_HUMAN	L	65	ENSP00000231173:R65L	ENSP00000231173:R65L	R	+	2	0	PCDHB15	140605524	0.781000	0.28676	0.997000	0.53966	0.565000	0.35776	2.454000	0.44979	0.086000	0.17137	-0.333000	0.08304	CGG		PASS	0.552	PCDHB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251804.2	NM_018935		34	32	34	32	---	---	---	---
PCDHGB2	56103	broad.mit.edu	37	5	140741405	140741405	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:140741405G>T	ENST00000522605.1	+	1	1703	c.1703G>T	c.(1702-1704)gGg>gTg	p.G568V	PCDHGA5_ENST00000518069.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1	Q9Y5G2	PCDGE_HUMAN	protocadherin gamma subfamily B, 2	568					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G568V(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGCGCTGGGGCCTGATGGC	0.682																																						uc003ljs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1702-1704)GGG>GTG		protocadherin gamma subfamily B, 2 isoform 1																																				SO:0001583	missense	56103				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140741405G>T	AF152331	CCDS54924.1, CCDS75332.1	5q31	2010-01-26				ENSG00000253910		"""Cadherins / Protocadherins : Clustered"""	8709	other	protocadherin		606300				10380929	Standard	NM_018923		Approved	PCDH-GAMMA-B2		Q9Y5G2		ENST00000522605.1:c.1703G>T	5.37:g.140741405G>T	ENSP00000429018:p.Gly568Val					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.G568V|PCDHGA5_uc011das.1_5'Flank	p.G568V	NM_018923	NP_061746	Q9Y5G2	PCDGE_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1703	+			568			Extracellular (Potential).		Q3MIJ3|Q9UN65	Missense_Mutation	SNP	ENST00000522605.1	37	c.1703G>T	CCDS54924.1	.	.	.	.	.	.	.	.	.	.	.	11.65	1.702285	0.30232	.	.	ENSG00000253910	ENST00000522605	T	0.51817	0.69	5.13	-3.57	0.04612	Cadherin-like (1);	.	.	.	.	T	0.41419	0.1158	N	0.20845	0.615	0.24345	N	0.994946	P;P	0.52316	0.912;0.952	P;P	0.55923	0.787;0.616	T	0.44019	-0.9355	9	0.62326	D	0.03	.	8.0429	0.30532	0.3717:0.4256:0.2027:0.0	.	568;568	Q9Y5G2-2;Q9Y5G2	.;PCDGE_HUMAN	V	568	ENSP00000429018:G568V	ENSP00000429018:G568V	G	+	2	0	PCDHGB2	140721589	0.001000	0.12720	0.657000	0.29651	0.664000	0.39144	0.082000	0.14847	-1.028000	0.03321	0.454000	0.30748	GGG		PASS	0.682	PCDHGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374741.1	NM_018923		22	28	22	28	---	---	---	---
SLC36A1	206358	broad.mit.edu	37	5	150856315	150856315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:150856315C>A	ENST00000243389.3	+	9	1210	c.987C>A	c.(985-987)tgC>tgA	p.C329*	SLC36A1_ENST00000520701.1_Nonsense_Mutation_p.C329*|RNA5SP197_ENST00000363357.1_RNA|SLC36A1_ENST00000521925.1_Nonsense_Mutation_p.C329*	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	329					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen ion transmembrane transporter activity (GO:0015078)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)|symporter activity (GO:0015293)	p.C329*(1)		endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Acamprosate(DB00659)|Glycine(DB00145)|Hydroxyproline(DB08847)|L-Alanine(DB00160)|Spaglumic Acid(DB08835)|Vigabatrin(DB01080)	TGCCCAACTGCTGGTACGTGG	0.483																																					Melanoma(151;1534 1860 12947 32979 37872)	uc003luc.2																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(985-987)TGC>TGA		solute carrier family 36 member 1	Glycine(DB00145)|L-Alanine(DB00160)						108.0	85.0	93.0					5																	150856315		2203	4300	6503	SO:0001587	stop_gained	206358				cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr5:150856315C>A	AK057340	CCDS4316.1	5q33.1	2013-05-22			ENSG00000123643	ENSG00000123643		"""Solute carriers"""	18761	protein-coding gene	gene with protein product		606561				11959859, 11390972	Standard	NM_078483		Approved	LYAAT-1, PAT1, TRAMD3	uc003luc.3	Q7Z2H8	OTTHUMG00000130125	ENST00000243389.3:c.987C>A	5.37:g.150856315C>A	ENSP00000243389:p.Cys329*					GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Nonsense_Mutation_p.C329*|SLC36A1_uc010jhw.1_Nonsense_Mutation_p.C329*	p.C329*	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1204	+		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	329	C->A,S: Abolishes the transport function.		Extracellular (Potential).		C9JI34|Q1LZ56|Q7Z7C0|Q86YK4|Q96M74	Nonsense_Mutation	SNP	ENST00000243389.3	37	c.987C>A	CCDS4316.1	.	.	.	.	.	.	.	.	.	.	C	38	7.154598	0.98099	.	.	ENSG00000123643	ENST00000520701;ENST00000243389;ENST00000456739;ENST00000521925;ENST00000517628	.	.	.	5.76	3.96	0.45880	.	0.090659	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	9.8719	0.41180	0.0:0.7777:0.0:0.2223	.	.	.	.	X	329;329;329;329;88	.	ENSP00000243389:C329X	C	+	3	2	SLC36A1	150836508	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.114000	0.31196	0.747000	0.32809	0.655000	0.94253	TGC		PASS	0.483	SLC36A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252433.1	NM_078483		3	42	3	42	---	---	---	---
NMUR2	56923	broad.mit.edu	37	5	151772031	151772031	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:151772031G>T	ENST00000255262.3	-	4	1134	c.969C>A	c.(967-969)aaC>aaA	p.N323K		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	323					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.N323K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			AGATAATGGGGTTGACAGCTG	0.478																																						uc003luv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1)	8						c.(967-969)AAC>AAA		neuromedin U receptor 2							104.0	105.0	105.0					5																	151772031		2203	4300	6503	SO:0001583	missense	56923				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	g.chr5:151772031G>T	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.969C>A	5.37:g.151772031G>T	ENSP00000255262:p.Asn323Lys						p.N323K	NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)		4	1135	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	323			Cytoplasmic (Potential).		Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	37	c.969C>A	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.286677	0.59867	.	.	ENSG00000132911	ENST00000255262	D	0.85411	-1.98	5.0	1.19	0.21007	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.94794	0.8319	H	0.99590	4.645	0.52099	D	0.99994	D	0.89917	1.0	D	0.91635	0.999	D	0.92350	0.5889	10	0.87932	D	0	-27.5826	7.8612	0.29511	0.4221:0.0:0.5779:0.0	.	323	Q9GZQ4	NMUR2_HUMAN	K	323	ENSP00000255262:N323K	ENSP00000255262:N323K	N	-	3	2	NMUR2	151752224	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.772000	0.47678	0.251000	0.21505	-0.373000	0.07131	AAC		PASS	0.478	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167		42	59	42	59	---	---	---	---
GRIA1	2890	broad.mit.edu	37	5	153056653	153056653	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:153056653G>C	ENST00000285900.5	+	7	1304	c.961G>C	c.(961-963)Ggg>Cgg	p.G321R	GRIA1_ENST00000448073.4_Missense_Mutation_p.G331R|GRIA1_ENST00000518142.1_Missense_Mutation_p.G241R|GRIA1_ENST00000518783.1_Missense_Mutation_p.G331R|GRIA1_ENST00000340592.5_Missense_Mutation_p.G321R|GRIA1_ENST00000521843.2_Missense_Mutation_p.G252R	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	321					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|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)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|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)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.G321R(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGGGAATGCTGGGGATTGTCT	0.567																																						uc003lva.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(2)	6						c.(961-963)GGG>CGG		glutamate receptor, ionotropic, AMPA 1 isoform	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						66.0	62.0	63.0					5																	153056653		2203	4300	6503	SO:0001583	missense	2890				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding	g.chr5:153056653G>C		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.961G>C	5.37:g.153056653G>C	ENSP00000285900:p.Gly321Arg					GRIA1_uc003luy.3_Missense_Mutation_p.G321R|GRIA1_uc003luz.3_Missense_Mutation_p.G226R|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.G241R|GRIA1_uc011dcx.1_Missense_Mutation_p.G252R|GRIA1_uc011dcy.1_Missense_Mutation_p.G331R|GRIA1_uc011dcz.1_Missense_Mutation_p.G331R|GRIA1_uc010jia.1_Missense_Mutation_p.G301R	p.G321R	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		7	1326	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	321			Extracellular (Potential).		B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.961G>C	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146587	0.57044	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.14144	2.58;2.61;2.58;2.53;2.53;2.57;2.56	5.56	4.69	0.59074	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.71036	2.16	0.80722	D	1	D;D;B;D;D;P	0.89917	1.0;1.0;0.346;1.0;1.0;0.922	D;D;B;D;D;B	0.76575	0.988;0.988;0.123;0.988;0.98;0.339	T	0.13926	-1.0491	10	0.72032	D	0.01	.	13.47	0.61278	0.0752:0.0:0.9248:0.0	.	331;331;241;331;321;321	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	R	321;321;241;275;321;252;252;331;331	ENSP00000285900:G321R;ENSP00000427920:G241R;ENSP00000339343:G321R;ENSP00000427864:G252R;ENSP00000442108:G252R;ENSP00000428994:G331R;ENSP00000415569:G331R	ENSP00000285900:G321R	G	+	1	0	GRIA1	153036846	1.000000	0.71417	1.000000	0.80357	0.183000	0.23260	9.506000	0.97992	1.339000	0.45563	-0.136000	0.14681	GGG		PASS	0.567	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			16	22	16	22	---	---	---	---
KIF4B	285643	broad.mit.edu	37	5	154393632	154393632	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:154393632G>T	ENST00000435029.4	+	1	373	c.213G>T	c.(211-213)ccG>ccT	p.P71P		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	71	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.P71P(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTAGCGCCGCTCATAAAAG	0.463																																						uc010jih.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(211-213)CCG>CCT		kinesin family member 4B							99.0	100.0	100.0					5																	154393632		2203	4300	6503	SO:0001819	synonymous_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393632G>T	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.213G>T	5.37:g.154393632G>T							p.P71P	NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	373	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	71			Kinesin-motor.			Silent	SNP	ENST00000435029.4	37	c.213G>T	CCDS47324.1																																																																																				PASS	0.463	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			34	43	34	43	---	---	---	---
CAGE1	285782	broad.mit.edu	37	6	7355339	7355339	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:7355339T>C	ENST00000512086.1	-	9	2320	c.2118A>G	c.(2116-2118)acA>acG	p.T706T	CAGE1_ENST00000338150.4_Silent_p.T733T|CAGE1_ENST00000502583.1_Silent_p.T768T|CAGE1_ENST00000296742.7_Silent_p.T570T|CAGE1_ENST00000379918.4_Silent_p.T746T			Q8TC20	CAGE1_HUMAN	cancer antigen 1	706								p.T570T(1)|p.T768T(1)|p.T733T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTTCATATGATGTAACCTTGA	0.289																																						uc003mxi.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(1708-1710)ACA>ACG		cancer antigen 1							96.0	88.0	91.0					6																	7355339		1807	4070	5877	SO:0001819	synonymous_variant	285782							g.chr6:7355339T>C	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.2118A>G	6.37:g.7355339T>C						CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Silent_p.T523T|CAGE1_uc003mxk.1_Silent_p.T488T	p.T570T	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN			8	2431	-	Ovarian(93;0.0418)		706					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Silent	SNP	ENST00000512086.1	37	c.1710A>G																																																																																					PASS	0.289	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		33	96	33	96	---	---	---	---
CAGE1	285782	broad.mit.edu	37	6	7373309	7373309	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:7373309G>T	ENST00000512086.1	-	5	1945	c.1743C>A	c.(1741-1743)acC>acA	p.T581T	CAGE1_ENST00000338150.4_Silent_p.T581T|CAGE1_ENST00000502583.1_Silent_p.T581T|CAGE1_ENST00000296742.7_Silent_p.T445T|CAGE1_ENST00000509324.1_5'Flank|CAGE1_ENST00000379918.4_Silent_p.T581T			Q8TC20	CAGE1_HUMAN	cancer antigen 1	581								p.T581T(2)|p.T445T(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					TCAATACCTTGGTAATATCTG	0.373																																						uc003mxi.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(1333-1335)ACC>ACA		cancer antigen 1							98.0	85.0	89.0					6																	7373309		1851	4087	5938	SO:0001819	synonymous_variant	285782							g.chr6:7373309G>T	BC026194	CCDS47367.1, CCDS54964.1, CCDS54965.1	6p24.3	2009-08-06	2005-01-26	2005-01-27	ENSG00000164304	ENSG00000164304			21622	protein-coding gene	gene with protein product	"""cancer/testis antigen 95"""	608304	"""cancer/testis antigen 3"""	CTAG3		12531476	Standard	NM_205864		Approved	bA69L16.7, CT95	uc003mxl.2	Q8TC20	OTTHUMG00000014200	ENST00000512086.1:c.1743C>A	6.37:g.7373309G>T						CAGE1_uc003mxh.2_RNA|CAGE1_uc003mxj.2_Silent_p.T336T|CAGE1_uc003mxk.1_Silent_p.T336T	p.T445T	NM_205864	NP_995586	Q8TC20	CAGE1_HUMAN			4	2056	-	Ovarian(93;0.0418)		581					D6RCT9|Q5TAM0|Q86TM4|Q8N7R5	Silent	SNP	ENST00000512086.1	37	c.1335C>A																																																																																					PASS	0.373	CAGE1-008	PUTATIVE	non_canonical_conserved|basic	protein_coding	protein_coding	OTTHUMT00000367136.1	NM_175745		7	39	7	39	---	---	---	---
TBC1D7	51256	broad.mit.edu	37	6	13306671	13306672	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:13306671_13306672CC>GA	ENST00000379300.3	-	7	996_997	c.753_754GG>TC	c.(751-756)atGGca>atTCca	p.251_252MA>IP	TBC1D7_ENST00000356436.4_Missense_Mutation_p.251_252MA>IP|TBC1D7_ENST00000607532.1_5'Flank|TBC1D7_ENST00000607658.1_3'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.205_206MA>IP|TBC1D7_ENST00000379307.2_Missense_Mutation_p.224_225MA>IP	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	251					activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.M251_A252>IP(1)|p.A252P(1)|p.M251I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CTGTTCAGTGCCATAACTTTTA	0.332																																						uc003naj.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(1)	1						c.(754-756)GCA>CCA|c.(751-753)ATG>ATT		TBC1 domain family, member 7 isoform a																																				SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13306671C>G|g.chr6:13306672C>A	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.753_754delinsGA	6.37:g.13306671_13306672delinsGA	ENSP00000368602:p.M251_A252delinsIP					TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_Missense_Mutation_p.A252P|TBC1D7_uc003nal.2_Missense_Mutation_p.A252P|TBC1D7_uc003nam.2_Missense_Mutation_p.A252P|TBC1D7_uc003nao.2_Missense_Mutation_p.A225P|TBC1D7_uc010jpd.2_Missense_Mutation_p.A206P|TBC1D7_uc003nap.2_3'UTR|TBC1D7_uc011dis.1_Intron|TBC1D7_uc003nan.2_Missense_Mutation_p.M251I|TBC1D7_uc003nal.2_Missense_Mutation_p.M251I|TBC1D7_uc003nam.2_Missense_Mutation_p.M251I|TBC1D7_uc003nao.2_Missense_Mutation_p.M224I|TBC1D7_uc010jpd.2_Missense_Mutation_p.M205I|TBC1D7_uc003nap.2_3'UTR	p.A252P|p.M251I	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		7	845|844	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	252|251					E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.754G>C|c.753G>T	CCDS4523.1																																																																																				PASS	0.332	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		33	93|94	33	93	---	---	---	---
PGBD1	84547	broad.mit.edu	37	6	28268912	28268912	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:28268912T>C	ENST00000405948.2	+	7	1701	c.1281T>C	c.(1279-1281)ttT>ttC	p.F427F	PGBD1_ENST00000259883.3_Silent_p.F427F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	427						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F427F(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AATTATTTTTTGATGATGAAA	0.358																																						uc003nky.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)	4						c.(1279-1281)TTT>TTC		piggyBac transposable element derived 1							85.0	90.0	89.0					6																	28268912		2200	4297	6497	SO:0001819	synonymous_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28268912T>C	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1281T>C	6.37:g.28268912T>C						PGBD1_uc003nkz.2_Silent_p.F427F	p.F427F	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN			7	1651	+			427					Q53F43|Q6NTF5|Q8WWS4	Silent	SNP	ENST00000405948.2	37	c.1281T>C	CCDS4648.1																																																																																				PASS	0.358	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2			67	134	67	134	---	---	---	---
ZSCAN31	64288	broad.mit.edu	37	6	28297141	28297141	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:28297141C>A	ENST00000414429.1	-	6	1223	c.320G>T	c.(319-321)gGg>gTg	p.G107V	ZSCAN31_ENST00000439158.1_Missense_Mutation_p.G107V|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.G107V|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000481934.1_5'Flank|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.G107V			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	107	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				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.G107V(1)									AGCCTCCTCCCCACTCTCCGG	0.532																																						uc003nla.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(319-321)GGG>GTG		zinc finger protein 323							133.0	149.0	144.0					6																	28297141		2203	4300	6503	SO:0001583	missense	64288				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28297141C>A		CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.320G>T	6.37:g.28297141C>A	ENSP00000390076:p.Gly107Val					ZNF323_uc003nld.2_Missense_Mutation_p.G107V|ZNF323_uc010jra.2_Missense_Mutation_p.G107V|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Missense_Mutation_p.G107V	p.G107V	NM_001135216	NP_001128688	Q96LW9	ZN323_HUMAN			2	720	-			107			SCAN box.		Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	c.320G>T	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601651	0.87055	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000344279;ENST00000453745;ENST00000439636;ENST00000447021	T;T;T;T;T;T;T	0.05025	3.51;3.51;3.51;3.51;3.51;3.51;3.51	4.76	0.656	0.17844	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.04861	0.0131	M	0.90425	3.115	0.09310	N	0.999999	B	0.20550	0.046	B	0.23419	0.046	T	0.25012	-1.0144	9	0.54805	T	0.06	.	7.8873	0.29656	0.4053:0.5193:0.0:0.0755	.	107	Q96LW9	ZN323_HUMAN	V	107	ENSP00000380050:G107V;ENSP00000413705:G107V;ENSP00000390076:G107V;ENSP00000345339:G107V;ENSP00000389479:G107V;ENSP00000412519:G107V;ENSP00000416108:G107V	ENSP00000345339:G107V	G	-	2	0	ZNF323	28405120	0.001000	0.12720	0.006000	0.13384	0.985000	0.73830	1.372000	0.34261	-0.104000	0.12154	0.563000	0.77884	GGG		PASS	0.532	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899		90	183	90	183	---	---	---	---
OR12D3	81797	broad.mit.edu	37	6	29342776	29342776	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:29342776T>C	ENST00000396806.3	-	1	292	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	97			T -> I (in dbSNP:rs3749971). {ECO:0000269|PubMed:14574404}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T97A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TGTAGCTGGGTGATACAGCCT	0.468																																						uc003nme.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(289-291)ACC>GCC		olfactory receptor, family 12, subfamily D,							57.0	60.0	59.0					6																	29342776		1510	2708	4218	SO:0001583	missense	81797				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29342776T>C		CCDS4658.1	6p22.1	2013-09-24			ENSG00000112462	ENSG00000112462		"""GPCR / Class A : Olfactory receptors"""	13963	protein-coding gene	gene with protein product							Standard	NM_030959		Approved	hs6M1-27	uc003nme.3	Q9UGF7	OTTHUMG00000031051	ENST00000396806.3:c.289A>G	6.37:g.29342776T>C	ENSP00000380023:p.Thr97Ala						p.T97A	NM_030959	NP_112221	Q9UGF7	O12D3_HUMAN			1	293	-			97			Extracellular (Potential).		A2BDZ1|Q5SQI8|Q6IF23	Missense_Mutation	SNP	ENST00000396806.3	37	c.289A>G	CCDS4658.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.984556	0.00443	.	.	ENSG00000112462	ENST00000377143;ENST00000396806	T	0.01323	5.01	4.18	3.03	0.35002	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00440	0.0014	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.44636	-0.9315	9	0.21014	T	0.42	-4.3866	6.0235	0.19642	0.0:0.3199:0.0:0.6801	.	97	Q9UGF7	O12D3_HUMAN	A	97	ENSP00000380023:T97A	ENSP00000366348:T97A	T	-	1	0	OR12D3	29450755	0.000000	0.05858	0.827000	0.32855	0.084000	0.17831	-1.282000	0.02799	0.648000	0.30732	0.164000	0.16699	ACC		PASS	0.468	OR12D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076056.3			20	36	20	36	---	---	---	---
ABCF1	23	broad.mit.edu	37	6	30557481	30557481	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:30557481G>T	ENST00000326195.8	+	21	2160	c.2048G>T	c.(2047-2049)aGa>aTa	p.R683I	ABCF1_ENST00000396515.4_Intron|ABCF1_ENST00000376545.3_Missense_Mutation_p.R645I	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	683	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				inflammatory response (GO:0006954)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)|ribosome (GO:0005840)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation activator activity (GO:0008494)|translation factor activity, nucleic acid binding (GO:0008135)	p.R683I(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GGGGAAATGAGAAAGAACCAC	0.453																																						uc003nql.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2047-2049)AGA>ATA		ATP-binding cassette, sub-family F, member 1							112.0	108.0	109.0					6																	30557481		2203	4300	6503	SO:0001583	missense	23				inflammatory response|translational initiation	nuclear envelope|nuclear envelope|nucleoplasm|nucleoplasm|polysomal ribosome	ATP binding|ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding	g.chr6:30557481G>T	AF027302	CCDS34380.1, CCDS34381.1	6p21.33	2012-03-14			ENSG00000204574	ENSG00000204574		"""ATP binding cassette transporters / subfamily F"""	70	protein-coding gene	gene with protein product		603429		ABC50		9790762	Standard	NM_001025091		Approved	EST123147	uc003nql.3	Q8NE71	OTTHUMG00000031094	ENST00000326195.8:c.2048G>T	6.37:g.30557481G>T	ENSP00000313603:p.Arg683Ile					ABCF1_uc003nqm.2_Missense_Mutation_p.R645I|ABCF1_uc010jsb.2_Intron	p.R683I	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN			21	2143	+			683			ABC transporter 2.		A2BF75|O14897|Q69YP6	Missense_Mutation	SNP	ENST00000326195.8	37	c.2048G>T	CCDS34380.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.199111	0.79015	.	.	ENSG00000204574	ENST00000326195;ENST00000376545	D;D	0.94000	-3.33;-3.33	5.94	5.94	0.96194	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.89639	0.6773	N	0.17312	0.475	0.80722	D	1	P;P	0.46395	0.877;0.592	P;B	0.49953	0.627;0.348	D	0.91013	0.4851	10	0.56958	D	0.05	-24.2558	19.1419	0.93449	0.0:0.0:1.0:0.0	.	645;683	Q2L6I2;Q8NE71	.;ABCF1_HUMAN	I	683;645	ENSP00000313603:R683I;ENSP00000365728:R645I	ENSP00000313603:R683I	R	+	2	0	ABCF1	30665460	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.705000	0.84606	2.821000	0.97095	0.651000	0.88453	AGA		PASS	0.453	ABCF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076137.3			23	66	23	66	---	---	---	---
C4B	721	broad.mit.edu	37	6	31997032	31997032	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:31997032A>G	ENST00000435363.2	+	28	3677	c.3593A>G	c.(3592-3594)tAt>tGt	p.Y1198C	C4B_ENST00000425700.2_Missense_Mutation_p.Y1198C	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1198					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)	p.Y1198C(1)								Intravenous Immunoglobulin(DB00028)	ATCACGGCCTATGCCCTGACA	0.607																																						uc011dpd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3592-3594)TAT>TGT		complement component 4A preproprotein							74.0	62.0	66.0					6																	31997032		1554	3535	5089	SO:0001583	missense	720				complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity	g.chr6:31997032A>G	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3593A>G	6.37:g.31997032A>G	ENSP00000415941:p.Tyr1198Cys					C4A_uc011dpe.1_Missense_Mutation_p.Y1198C	p.Y1198C	NM_007293	NP_009224	P0C0L4	CO4A_HUMAN			28	3644	+			1198					A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000435363.2	37	c.3593A>G	CCDS47405.1	.	.	.	.	.	.	.	.	.	.	A	16.53	3.149875	0.57151	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.62105	0.05;0.05	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.79528	0.4461	H	0.94886	3.595	0.49051	D	0.999741	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84268	0.0487	10	0.87932	D	0	.	10.0879	0.42430	1.0:0.0:0.0:0.0	.	1198;1198	F5GXS0;Q6U2E9	.;.	C	1198	ENSP00000415941:Y1198C;ENSP00000391933:Y1198C	ENSP00000391933:Y1198C	Y	+	2	0	C4B	32105010	0.998000	0.40836	1.000000	0.80357	0.860000	0.49131	3.741000	0.55090	1.882000	0.54519	0.450000	0.29827	TAT		PASS	0.607	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		19	74	19	74	---	---	---	---
HLA-DRB1	3123	broad.mit.edu	37	6	32549334	32549334	+	Splice_Site	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:32549334T>A	ENST00000360004.5	-	3	757	c.652A>T	c.(652-654)Aga>Tga	p.R218*		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	218	Beta-2.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)		p.R218*(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						AGCTGCTCACTCCATTCCACT	0.512										Multiple Myeloma(14;0.17)																												uc003obp.3																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(652-654)AGA>TGA		major histocompatibility complex, class II, DR							90.0	86.0	88.0					6																	32549334		1504	2696	4200	SO:0001630	splice_region_variant	3123	Rheumatoid_Arthritis|Sj_gren_syndrome			antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex		g.chr6:32549334T>A	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.652+1A>T	6.37:g.32549334T>A		Multiple Myeloma(14;0.17)				HLA-DRB1_uc011dqa.1_Nonsense_Mutation_p.R48*|HLA-DRB5_uc003obk.3_Intron|HLA-DRB6_uc003obo.1_Intron|uc010jub.1_5'Flank|HLA-DRB1_uc011dqb.1_Missense_Mutation_p.T48S|HLA-DRB1_uc011dqc.1_Nonsense_Mutation_p.R48*	p.R218*	NM_002124	NP_002115	P01911	2B1F_HUMAN			3	695	-			218			Beta-2.|Extracellular (Potential).		P01914|Q9MYF5	Nonsense_Mutation	SNP	ENST00000360004.5	37	c.652A>T	CCDS47409.1	.	.	.	.	.	.	.	.	.	.	.	16.18	3.050912	0.55218	.	.	ENSG00000196126	ENST00000360004	.	.	.	3.76	3.76	0.43208	.	0.645090	0.16985	N	0.191537	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.9969	0.19499	0.0:0.1226:0.0:0.8774	.	.	.	.	X	218	.	.	R	-	1	2	HLA-DRB1	32657312	1.000000	0.71417	1.000000	0.80357	0.048000	0.14542	2.269000	0.43346	1.476000	0.48215	0.372000	0.22366	AGA		PASS	0.512	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124	Nonsense_Mutation	7	123	7	123	---	---	---	---
TAP2	6891	broad.mit.edu	37	6	32803537	32803537	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:32803537C>T	ENST00000452392.2	-	4	795	c.622G>A	c.(622-624)Ggc>Agc	p.G208S	TAP2_ENST00000374899.4_Missense_Mutation_p.G208S|TAP2_ENST00000374897.2_Missense_Mutation_p.G208S			Q9UDX4	S14L3_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.G208S(2)								Vitamin E(DB00163)	CCTCGGCAGCCTGCAGACAGT	0.582																																						uc003occ.2																			2	Substitution - Missense(2)		lung(2)		0						c.(622-624)GGC>AGC		transporter 2, ATP-binding cassette, sub-family							83.0	84.0	84.0					6																	32803537		1509	2707	4216	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32803537C>T	M74447	CCDS4755.1	6p21.3	2014-09-17			ENSG00000204267	ENSG00000204267		"""ATP binding cassette transporters / subfamily B"""	44	protein-coding gene	gene with protein product		170261		ABCB3		1529427, 1946428, 16395595	Standard	NM_001290043		Approved	PSF2, RING11, D6S217E	uc003ocd.3	Q03519	OTTHUMG00000031068	ENST00000452392.2:c.622G>A	6.37:g.32803537C>T	ENSP00000391806:p.Gly208Ser					TAP2_uc011dqf.1_Missense_Mutation_p.G208S|TAP2_uc003ocb.1_Missense_Mutation_p.G208S|TAP2_uc003ocd.2_Missense_Mutation_p.G208S	p.G208S	NM_018833	NP_061313	Q03519	TAP2_HUMAN			3	653	-			208			Helical; Name=5; (Potential).|ABC transmembrane type-1.		E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000452392.2	37	c.622G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.222170	0.95139	.	.	ENSG00000204267;ENSG00000204267;ENSG00000204267;ENSG00000250264	ENST00000556934;ENST00000374899;ENST00000374897;ENST00000452392	T;T;T	0.80123	-1.34;-1.34;-1.34	5.5	5.5	0.81552	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	2.323100	0.02240	N	0.065716	D	0.92270	0.7548	M	0.92555	3.32	0.52099	D	0.999945	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.79137	-0.1927	9	0.59425	D	0.04	-27.1418	16.8813	0.86064	0.0:1.0:0.0:0.0	.	208;209;208;208	E7ENX8;Q59H06;Q03519;Q9UP03	.;.;TAP2_HUMAN;.	S	208	ENSP00000364034:G208S;ENSP00000364032:G208S;ENSP00000391806:G208S	ENSP00000364032:G208S	G	-	1	0	XXbac-BPG246D15.9;TAP2	32911515	0.997000	0.39634	1.000000	0.80357	0.857000	0.48899	4.033000	0.57282	2.585000	0.87301	0.542000	0.68232	GGC		PASS	0.582	TAP2-001	NOVEL	mRNA_end_NF|cds_end_NF|basic|appris_principal|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000361828.1	NM_000544		37	79	37	79	---	---	---	---
ANKS1A	23294	broad.mit.edu	37	6	35027962	35027962	+	Nonsense_Mutation	SNP	G	G	T	rs200964525		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:35027962G>T	ENST00000360359.3	+	13	2254	c.2116G>T	c.(2116-2118)Gag>Tag	p.E706*	ANKS1A_ENST00000470698.1_3'UTR|ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	706	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				ephrin receptor signaling pathway (GO:0048013)|neuron remodeling (GO:0016322)|substrate-dependent cell migration (GO:0006929)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleus (GO:0005634)		p.E706*(1)|p.E32*(1)		cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GGAGTGGCTGGAGTCGATTGG	0.552																																						uc003ojx.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2116-2118)GAG>TAG		ankyrin repeat and sterile alpha motif domain							105.0	84.0	91.0					6																	35027962		2203	4300	6503	SO:0001587	stop_gained	23294					cytoplasm	protein binding	g.chr6:35027962G>T	D86982	CCDS4798.1	6p21.31	2013-01-10	2006-02-17	2006-02-17	ENSG00000064999	ENSG00000064999		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20961	protein-coding gene	gene with protein product		608994	"""ankyrin repeat and SAM domain containing 1"", ""ankyrin repeat and sterile alpha motif domain containing 1"""	ANKS1		9039502	Standard	NM_015245		Approved	KIAA0229	uc003ojx.4	Q92625	OTTHUMG00000014559	ENST00000360359.3:c.2116G>T	6.37:g.35027962G>T	ENSP00000353518:p.Glu706*					ANKS1A_uc011dss.1_Intron|ANKS1A_uc011dst.1_Nonsense_Mutation_p.E246*|ANKS1A_uc010jvp.1_Nonsense_Mutation_p.E80*	p.E706*	NM_015245	NP_056060	Q92625	ANS1A_HUMAN			13	2258	+			706			SAM 1.		A2RUC1|B4DQW8|Q5JYI9|Q5SYR2|Q86WQ7	Nonsense_Mutation	SNP	ENST00000360359.3	37	c.2116G>T	CCDS4798.1	.	.	.	.	.	.	.	.	.	.	G	41	8.744536	0.98937	.	.	ENSG00000064999	ENST00000360359;ENST00000373990	.	.	.	5.68	5.68	0.88126	.	0.000000	0.47093	D	0.000251	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-20.3704	13.0396	0.58891	0.0735:0.0:0.9265:0.0	.	.	.	.	X	706;32	.	ENSP00000353518:E706X	E	+	1	0	ANKS1A	35135940	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.055000	0.89453	2.683000	0.91414	0.313000	0.20887	GAG		PASS	0.552	ANKS1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040262.1	XM_166478		4	10	4	10	---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35209601	35209601	+	Missense_Mutation	SNP	C	C	A	rs148936412	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:35209601C>A	ENST00000274938.7	+	12	1331	c.1331C>A	c.(1330-1332)aCg>aAg	p.T444K	SCUBE3_ENST00000394681.1_Missense_Mutation_p.T460K	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.T444K(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AATGGCTTCACGGTGAGCTGT	0.612											OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003okf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1330-1332)ACG>AAG		signal peptide, CUB domain, EGF-like 3							59.0	57.0	58.0					6																	35209601		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35209601C>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1331C>A	6.37:g.35209601C>A	ENSP00000274938:p.Thr444Lys		OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	853	SCUBE3_uc003okg.1_Missense_Mutation_p.T443K|SCUBE3_uc003okh.1_Missense_Mutation_p.T331K	p.T444K	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			12	1337	+			444						Missense_Mutation	SNP	ENST00000274938.7	37	c.1331C>A	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382458	0.61845	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;D	0.82711	-1.25;-1.64	5.34	4.28	0.50868	.	0.107283	0.64402	D	0.000003	T	0.66317	0.2777	L	0.50333	1.59	0.41784	D	0.989835	P;B	0.35272	0.493;0.36	B;B	0.31946	0.138;0.04	T	0.66972	-0.5788	10	0.15066	T	0.55	.	14.902	0.70687	0.0:0.9191:0.0:0.0809	.	460;444	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	K	460;444	ENSP00000378174:T460K;ENSP00000274938:T444K	ENSP00000274938:T444K	T	+	2	0	SCUBE3	35317579	0.982000	0.34865	0.954000	0.39281	0.964000	0.63967	2.571000	0.45990	2.499000	0.84300	0.650000	0.86243	ACG		PASS	0.612	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		27	40	27	40	---	---	---	---
BRPF3	27154	broad.mit.edu	37	6	36172574	36172574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:36172574C>T	ENST00000357641.6	+	3	1841	c.1588C>T	c.(1588-1590)Caa>Taa	p.Q530*	BRPF3_ENST00000543502.1_Nonsense_Mutation_p.Q530*|BRPF3_ENST00000534400.1_Nonsense_Mutation_p.Q530*|BRPF3_ENST00000443324.2_Nonsense_Mutation_p.Q530*|BRPF3_ENST00000339717.7_Nonsense_Mutation_p.Q530*|BRPF3_ENST00000534694.1_Nonsense_Mutation_p.Q530*	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	530					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)	p.Q530*(1)		breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCTGCAGTCCCAAAGAAACGC	0.547																																						uc003olv.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1588-1590)CAA>TAA		bromodomain and PHD finger containing, 3							104.0	98.0	100.0					6																	36172574		2203	4300	6503	SO:0001587	stop_gained	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36172574C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1588C>T	6.37:g.36172574C>T	ENSP00000350267:p.Gln530*					BRPF3_uc010jwb.2_Nonsense_Mutation_p.Q530*|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Nonsense_Mutation_p.Q530*	p.Q530*	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			3	1812	+			530					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Nonsense_Mutation	SNP	ENST00000357641.6	37	c.1588C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	39	7.511136	0.98329	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000527657	.	.	.	5.43	5.43	0.79202	.	0.055645	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	.	.	.	X	530;530;530;530;530;530;76	.	ENSP00000345419:Q530X	Q	+	1	0	BRPF3	36280552	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.770000	0.85390	2.541000	0.85698	0.557000	0.71058	CAA		PASS	0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		41	133	41	133	---	---	---	---
PI16	221476	broad.mit.edu	37	6	36929703	36929703	+	Missense_Mutation	SNP	C	C	A	rs139815357	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:36929703C>A	ENST00000373674.3	+	4	873	c.545C>A	c.(544-546)cCg>cAg	p.P182Q		NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	182					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.P182Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAGGGGACTCCGTGCTCCCAA	0.642																																						uc003ona.2																			1	Substitution - Missense(1)		lung(1)		0						c.(544-546)CCG>CAG		protease inhibitor 16 precursor							109.0	89.0	96.0					6																	36929703		2203	4300	6503	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36929703C>A		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.545C>A	6.37:g.36929703C>A	ENSP00000362778:p.Pro182Gln					PI16_uc003omz.1_Missense_Mutation_p.P182Q|PI16_uc003onb.2_Missense_Mutation_p.P182Q|PI16_uc011dts.1_5'UTR	p.P182Q	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			4	873	+			182			Extracellular (Potential).		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.545C>A	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875711	0.51695	.	.	ENSG00000164530	ENST00000536757;ENST00000373674;ENST00000539035	T	0.09817	2.94	5.06	4.13	0.48395	CAP domain (1);	0.222674	0.39909	N	0.001226	T	0.08044	0.0201	M	0.77313	2.365	0.20307	N	0.999917	P;P	0.49447	0.924;0.81	B;B	0.39876	0.312;0.232	T	0.06006	-1.0851	10	0.51188	T	0.08	.	13.9534	0.64133	0.1615:0.8385:0.0:0.0	.	182;182	Q6UXB8;Q6UXB8-2	PI16_HUMAN;.	Q	182;182;34	ENSP00000362778:P182Q	ENSP00000362778:P182Q	P	+	2	0	PI16	37037681	0.049000	0.20398	0.884000	0.34674	0.898000	0.52572	2.124000	0.42006	2.642000	0.89623	0.561000	0.74099	CCG		PASS	0.642	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		38	107	38	107	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38831802	38831802	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:38831802A>T	ENST00000359357.3	+	43	6067	c.5813A>T	c.(5812-5814)gAt>gTt	p.D1938V	DNAH8_ENST00000449981.2_Missense_Mutation_p.D2155V|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1938V			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1938	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D1938V(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATTGTGTTGATTTAAATCCA	0.294																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(5812-5814)GAT>GTT		dynein, axonemal, heavy polypeptide 8							71.0	72.0	71.0					6																	38831802		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38831802A>T	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.5813A>T	6.37:g.38831802A>T	ENSP00000352312:p.Asp1938Val						p.D1938V	NM_001371	NP_001362					43	6413	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.5813A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.7|22.7	4.323065|4.323065	0.81580|0.81580	.|.	.|.	ENSG00000124721|ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566|ENST00000394393	T;T;T|.	0.09255|.	3.0;3.0;3.0|.	5.48|5.48	5.48|5.48	0.80851|0.80851	ATPase, AAA+ type, core (1);|.	0.049216|.	0.85682|.	D|.	0.000000|.	T|T	0.39545|0.39545	0.1082|0.1082	N|N	0.25060|0.25060	0.705|0.705	0.80722|0.80722	D|D	1|1	D|.	0.53151|.	0.958|.	P|.	0.52598|.	0.703|.	T|T	0.36359|0.36359	-0.9751|-0.9751	10|5	0.45353|.	T|.	0.12|.	.|.	15.5604|15.5604	0.76240|0.76240	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1938|.	Q96JB1|.	DYH8_HUMAN|.	V|F	2143;2143;1938;1938|20	ENSP00000333363:D2143V;ENSP00000352312:D1938V;ENSP00000402294:D1938V|.	ENSP00000333363:D2143V|.	D|I	+|+	2|1	0|0	DNAH8|DNAH8	38939780|38939780	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.287000|9.287000	0.95975|0.95975	2.087000|2.087000	0.62958|0.62958	0.402000|0.402000	0.26972|0.26972	GAT|ATT		PASS	0.294	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		19	65	19	65	---	---	---	---
GLTSCR1L	23506	broad.mit.edu	37	6	42797882	42797882	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:42797882C>G	ENST00000314073.5	+	6	1987	c.1811C>G	c.(1810-1812)aCa>aGa	p.T604R	GLTSCR1L_ENST00000394168.1_Missense_Mutation_p.T604R			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	604								p.T604R(1)									ACACCTGGAACAGGAACCCAG	0.428																																						uc003osn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1810-1812)ACA>AGA		hypothetical protein LOC23506							92.0	94.0	93.0					6																	42797882		2203	4300	6503	SO:0001583	missense	23506							g.chr6:42797882C>G	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1811C>G	6.37:g.42797882C>G	ENSP00000313933:p.Thr604Arg					KIAA0240_uc003osm.1_Missense_Mutation_p.T604R|KIAA0240_uc011duw.1_Missense_Mutation_p.T604R|KIAA0240_uc003oso.1_Missense_Mutation_p.T604R|KIAA0240_uc003osp.1_Missense_Mutation_p.T604R	p.T604R	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		6	1962	+	Colorectal(47;0.196)		604					A1L3W2|Q5TFZ3|Q92514	Missense_Mutation	SNP	ENST00000314073.5	37	c.1811C>G	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	C	6.968	0.548479	0.13312	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	T;T	0.44881	0.91;0.91	5.78	2.98	0.34508	.	0.645288	0.15018	N	0.285154	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	B;B;B	0.21905	0.062;0.018;0.062	B;B;B	0.23018	0.029;0.043;0.027	T	0.34825	-0.9813	10	0.23302	T	0.38	-0.0018	8.084	0.30760	0.0:0.6531:0.227:0.1199	.	604;604;604	F5H616;Q6AI39;B7Z2G7	.;K0240_HUMAN;.	R	604	ENSP00000313933:T604R;ENSP00000377723:T604R	ENSP00000313933:T604R	T	+	2	0	KIAA0240	42905860	0.204000	0.23447	0.090000	0.20809	0.992000	0.81027	0.293000	0.19029	0.810000	0.34279	0.557000	0.71058	ACA		PASS	0.428	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		23	89	23	89	---	---	---	---
PGK2	5232	broad.mit.edu	37	6	49754834	49754834	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:49754834C>G	ENST00000304801.3	-	1	219	c.67G>C	c.(67-69)Gta>Cta	p.V23L		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	23					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)	p.V23L(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TTGAAGTCTACTCTCATGATG	0.428																																						uc003ozu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(67-69)GTA>CTA		phosphoglycerate kinase 2							191.0	173.0	179.0					6																	49754834		2203	4300	6503	SO:0001583	missense	5232				glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chr6:49754834C>G	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.67G>C	6.37:g.49754834C>G	ENSP00000305995:p.Val23Leu						p.V23L	NM_138733	NP_620061	P07205	PGK2_HUMAN			1	174	-	Lung NSC(77;0.0402)		23					B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	37	c.67G>C	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251530	0.59212	.	.	ENSG00000170950	ENST00000304801	D	0.92805	-3.11	4.09	4.09	0.47781	Phosphoglycerate kinase, conserved site (1);Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.90650	3.135	0.58432	D	0.999995	B	0.23650	0.089	B	0.29716	0.106	D	0.92146	0.5724	10	0.87932	D	0	-16.6806	12.079	0.53659	0.0:1.0:0.0:0.0	.	23	P07205	PGK2_HUMAN	L	23	ENSP00000305995:V23L	ENSP00000305995:V23L	V	-	1	0	PGK2	49862793	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.548000	0.73896	2.562000	0.86427	0.585000	0.79938	GTA		PASS	0.428	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1			38	132	38	132	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50682845	50682845	+	Nonsense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:50682845C>G	ENST00000008391.3	+	2	284	c.56C>G	c.(55-57)tCa>tGa	p.S19*		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.S19*(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CACGACGGATCAAACAGCTAC	0.532																																						uc003paf.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|breast(1)	7						c.(55-57)TCA>TGA		transcription factor AP-2 beta-like 1							118.0	96.0	104.0					6																	50682845		2203	4300	6503	SO:0001587	stop_gained	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50682845C>G	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.56C>G	6.37:g.50682845C>G	ENSP00000008391:p.Ser19*					TFAP2D_uc011dwt.1_RNA	p.S19*	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			2	568	+	Lung NSC(77;0.0334)		19						Nonsense_Mutation	SNP	ENST00000008391.3	37	c.56C>G	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	C	38	6.835400	0.97873	.	.	ENSG00000008197	ENST00000008391	.	.	.	5.56	5.56	0.83823	.	0.285487	0.35903	N	0.002904	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-13.4775	19.5243	0.95197	0.0:1.0:0.0:0.0	.	.	.	.	X	19	.	ENSP00000008391:S19X	S	+	2	0	TFAP2D	50790804	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.751000	0.85126	2.605000	0.88082	0.655000	0.94253	TCA		PASS	0.532	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		19	64	19	64	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50740364	50740364	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:50740364C>A	ENST00000008391.3	+	8	1374	c.1146C>A	c.(1144-1146)atC>atA	p.I382I		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.I382I(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CCAGTTTGATCACTCATGGCT	0.378																																						uc003paf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|breast(1)	7						c.(1144-1146)ATC>ATA		transcription factor AP-2 beta-like 1							48.0	49.0	49.0					6																	50740364		2203	4300	6503	SO:0001819	synonymous_variant	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50740364C>A	AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1146C>A	6.37:g.50740364C>A						TFAP2D_uc011dwt.1_RNA	p.I382I	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			8	1658	+	Lung NSC(77;0.0334)		382			H-S-H (helix-span-helix), dimerization.			Silent	SNP	ENST00000008391.3	37	c.1146C>A	CCDS4933.1																																																																																				PASS	0.378	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		22	40	22	40	---	---	---	---
COL21A1	81578	broad.mit.edu	37	6	56044420	56044420	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:56044420G>T	ENST00000244728.5	-	3	993	c.596C>A	c.(595-597)gCa>gAa	p.A199E	COL21A1_ENST00000370819.1_Missense_Mutation_p.A199E|COL21A1_ENST00000535941.1_Missense_Mutation_p.A199E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	199	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A199E(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTTGGATATTGCAATATAGTC	0.343																																						uc003pcs.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(595-597)GCA>GAA		collagen, type XXI, alpha 1 precursor							67.0	62.0	64.0					6																	56044420		1855	4096	5951	SO:0001583	missense	81578				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr6:56044420G>T	AF330693	CCDS55025.1	6p12.3-p11.2	2013-01-16			ENSG00000124749	ENSG00000124749		"""Collagens"""	17025	protein-coding gene	gene with protein product		610002				11566190	Standard	XR_241922		Approved		uc003pcs.3	Q96P44	OTTHUMG00000014907	ENST00000244728.5:c.596C>A	6.37:g.56044420G>T	ENSP00000244728:p.Ala199Glu					COL21A1_uc003pct.1_RNA|COL21A1_uc011dxi.1_Missense_Mutation_p.A199E|COL21A1_uc003pcu.1_Missense_Mutation_p.A199E	p.A199E	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.181)		3	828	-	Lung NSC(77;0.0483)		199			VWFA.		A6NIX5|B2R8J9|Q49A51|Q71RF4|Q8WXV8|Q9H0V3	Missense_Mutation	SNP	ENST00000244728.5	37	c.596C>A	CCDS55025.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833504	0.50951	.	.	ENSG00000124749	ENST00000244728;ENST00000370819;ENST00000535941;ENST00000370811	D;D;D	0.83250	-1.7;-1.7;-1.7	4.42	3.54	0.40534	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000042	T	0.81536	0.4843	L	0.50993	1.605	0.80722	D	1	D;D	0.62365	0.98;0.991	P;P	0.59424	0.773;0.857	T	0.82139	-0.0605	10	0.49607	T	0.09	.	12.5657	0.56308	0.082:0.0:0.918:0.0	.	199;199	Q96P44-3;Q96P44	.;COLA1_HUMAN	E	199	ENSP00000244728:A199E;ENSP00000359855:A199E;ENSP00000444384:A199E	ENSP00000244728:A199E	A	-	2	0	COL21A1	56152379	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.372000	0.73123	0.975000	0.38392	0.585000	0.79938	GCA		PASS	0.343	COL21A1-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041004.2			18	41	18	41	---	---	---	---
DST	667	broad.mit.edu	37	6	56458768	56458768	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:56458768T>A	ENST00000361203.3	-	44	11793	c.11786A>T	c.(11785-11787)gAt>gTt	p.D3929V	DST_ENST00000244364.6_Missense_Mutation_p.D1517V|DST_ENST00000370754.5_Missense_Mutation_p.D4109V|DST_ENST00000312431.6_Missense_Mutation_p.D3929V|DST_ENST00000370769.4_Missense_Mutation_p.D3931V|DST_ENST00000421834.2_Missense_Mutation_p.D1843V|DST_ENST00000370788.2_Missense_Mutation_p.D1843V|DST_ENST00000446842.2_Missense_Mutation_p.D3605V			Q03001	DYST_HUMAN	dystonin	3929					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.D3931V(1)|p.D1517V(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATAGTCAGCATCAAACTTTTC	0.413																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(6061-6063)GAT>GTT		dystonin isoform 2							88.0	81.0	83.0					6																	56458768		1907	4126	6033	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56458768T>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.11786A>T	6.37:g.56458768T>A	ENSP00000354508:p.Asp3929Val					DST_uc003pcz.3_Missense_Mutation_p.D1843V|DST_uc011dxj.1_Missense_Mutation_p.D1872V|DST_uc011dxk.1_Missense_Mutation_p.D1883V|DST_uc003pcy.3_Missense_Mutation_p.D1517V|DST_uc010kaa.1_RNA	p.D2021V	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		42	6090	-	Lung NSC(77;0.103)		3929			Spectrin 2.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.6062A>T		.	.	.	.	.	.	.	.	.	.	T	12.90	2.077838	0.36662	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75;0.75;0.75	5.44	5.44	0.79542	.	0.000000	0.56097	D	0.000027	T	0.43853	0.1266	L	0.46157	1.445	0.31436	N	0.672493	P;D;D;P;B	0.53619	0.906;0.961;0.961;0.611;0.006	P;P;P;B;B	0.60473	0.762;0.875;0.875;0.398;0.015	T	0.39860	-0.9593	9	0.24483	T	0.36	.	11.7436	0.51807	0.0:0.0:0.1471:0.8529	.	1843;3931;4109;3929;1517	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	V	1517;4109;3931;1843;3605;3929;1843;3929	ENSP00000244364:D1517V;ENSP00000359790:D4109V;ENSP00000359805:D3931V;ENSP00000400883:D1843V;ENSP00000393645:D3605V;ENSP00000307959:D3929V;ENSP00000359824:D1843V;ENSP00000354508:D3929V	ENSP00000244364:D1517V	D	-	2	0	DST	56566727	0.391000	0.25221	0.128000	0.21923	0.751000	0.42716	2.450000	0.44943	2.180000	0.69256	0.528000	0.53228	GAT		PASS	0.413	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		17	71	17	71	---	---	---	---
KIAA1586	57691	broad.mit.edu	37	6	56919312	56919312	+	Missense_Mutation	SNP	G	G	T	rs551730022		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:56919312G>T	ENST00000370733.4	+	4	2222	c.2015G>T	c.(2014-2016)cGg>cTg	p.R672L	KIAA1586_ENST00000545356.1_Missense_Mutation_p.R645L	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	672							nucleic acid binding (GO:0003676)	p.R672L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AATGATTTTCGGGAATTTGTA	0.269																																						uc003pdj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2014-2016)CGG>CTG		hypothetical protein LOC57691																																				SO:0001583	missense	57691						nucleic acid binding	g.chr6:56919312G>T	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.2015G>T	6.37:g.56919312G>T	ENSP00000359768:p.Arg672Leu					KIAA1586_uc011dxm.1_Missense_Mutation_p.R645L	p.R672L	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	2185	+	Lung NSC(77;0.0969)		672					A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	c.2015G>T	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	g	5.531	0.282856	0.10458	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.21361	2.01;2.01	3.02	-2.74	0.05932	Ribonuclease H-like (1);	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.46219	-0.9207	9	0.10902	T	0.67	.	3.536	0.07794	0.5073:0.0:0.3035:0.1892	.	645;672	F5H2N6;Q9HCI6	.;K1586_HUMAN	L	672;645	ENSP00000359768:R672L;ENSP00000445507:R645L	ENSP00000359768:R672L	R	+	2	0	KIAA1586	57027271	0.010000	0.17322	0.006000	0.13384	0.904000	0.53231	-0.395000	0.07287	-0.454000	0.07066	0.650000	0.86243	CGG		PASS	0.269	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		18	34	18	34	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63990387	63990387	+	Missense_Mutation	SNP	A	A	T	rs556357153		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:63990387A>T	ENST00000370657.4	-	4	1102	c.1069T>A	c.(1069-1071)Tgc>Agc	p.C357S	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	357					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.C357S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCATCAGGCAGCTGAGCGCA	0.498																																						uc003peh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1069-1071)TGC>AGC		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						119.0	118.0	119.0					6																	63990387		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990387A>T	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1069T>A	6.37:g.63990387A>T	ENSP00000359691:p.Cys357Ser					LGSN_uc003pei.2_3'UTR	p.C357S	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			4	1103	-			357					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1069T>A	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	13.52	2.261927	0.39995	.	.	ENSG00000146166	ENST00000370657	D	0.85013	-1.93	5.77	4.61	0.57282	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	M	0.73962	2.25	0.80722	D	1	P	0.51653	0.947	P	0.57204	0.815	D	0.87476	0.2417	10	0.66056	D	0.02	-17.6182	10.9553	0.47354	0.9271:0.0:0.0729:0.0	.	357	Q5TDP6	LGSN_HUMAN	S	357	ENSP00000359691:C357S	ENSP00000359691:C357S	C	-	1	0	LGSN	64048346	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	7.124000	0.77185	1.022000	0.39626	-0.250000	0.11733	TGC		PASS	0.498	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		43	126	43	126	---	---	---	---
FAM46A	55603	broad.mit.edu	37	6	82459917	82459917	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:82459917A>T	ENST00000320172.6	-	3	1138	c.824T>A	c.(823-825)cTt>cAt	p.L275H	FAM46A_ENST00000369756.3_Missense_Mutation_p.L356H|FAM46A_ENST00000369754.3_Missense_Mutation_p.L294H	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	275					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)	p.L275H(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CTTGTTACAAAGGTGATCAAA	0.502																																						uc003pjg.2																			1	Substitution - Missense(1)		lung(1)		0						c.(823-825)CTT>CAT		hypothetical protein LOC55603							69.0	73.0	72.0					6																	82459917		2203	4300	6503	SO:0001583	missense	55603							g.chr6:82459917A>T	AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.824T>A	6.37:g.82459917A>T	ENSP00000318298:p.Leu275His					FAM46A_uc003pjf.2_Missense_Mutation_p.L294H	p.L275H	NM_017633	NP_060103	Q96IP4	FA46A_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0428)	3	1142	-		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)	275					A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	ENST00000320172.6	37	c.824T>A	CCDS34489.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.462006	0.43736	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.41065	1.01;1.01;1.01	5.95	5.95	0.96441	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.67524	0.2902	M	0.91090	3.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76377	-0.2981	10	0.87932	D	0	-19.1331	16.4237	0.83790	1.0:0.0:0.0:0.0	.	275;294	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	H	294;275;356	ENSP00000358769:L294H;ENSP00000318298:L275H;ENSP00000358771:L356H	ENSP00000318298:L275H	L	-	2	0	FAM46A	82516636	1.000000	0.71417	1.000000	0.80357	0.082000	0.17680	9.339000	0.96797	2.279000	0.76181	0.533000	0.62120	CTT		PASS	0.502	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041331.1			31	79	31	79	---	---	---	---
CEP162	22832	broad.mit.edu	37	6	84884584	84884584	+	Silent	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:84884584C>G	ENST00000403245.3	-	15	2001	c.1887G>C	c.(1885-1887)gcG>gcC	p.A629A	KIAA1009_ENST00000257766.4_Silent_p.A553A|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2												p.A629A(1)		breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTAGGGCTTGCGCACCCCTCC	0.373																																						uc010kbp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1885-1887)GCG>GCC		KIAA1009 protein							86.0	74.0	78.0					6																	84884584		2203	4300	6503	SO:0001819	synonymous_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84884584C>G																												ENST00000403245.3:c.1887G>C	6.37:g.84884584C>G						KIAA1009_uc003pkj.3_Silent_p.A553A|KIAA1009_uc003pkk.2_3'UTR|KIAA1009_uc003pki.3_Silent_p.A15A	p.A629A	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	15	1984	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	629			Potential.			Silent	SNP	ENST00000403245.3	37	c.1887G>C	CCDS34494.2																																																																																				PASS	0.373	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			7	32	7	32	---	---	---	---
HTR1E	3354	broad.mit.edu	37	6	87725512	87725512	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:87725512T>G	ENST00000305344.5	+	2	1163	c.460T>G	c.(460-462)Tcc>Gcc	p.S154A		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	154					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.S154A(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)	CATTTTCATCTCCATGCCCCC	0.557																																						uc003pli.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(460-462)TCC>GCC		5-hydroxytryptamine (serotonin) receptor 1E	Eletriptan(DB00216)						105.0	95.0	98.0					6																	87725512		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.chr6:87725512T>G		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.460T>G	6.37:g.87725512T>G	ENSP00000307766:p.Ser154Ala						p.S154A	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	2	1163	+		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)	154			Helical; Name=4; (By similarity).		E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.460T>G	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920446	0.73098	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.38560	1.13;1.13	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	U	0.000016	T	0.55146	0.1902	M	0.73753	2.245	0.54753	D	0.999984	D	0.89917	1.0	D	0.91635	0.999	T	0.63079	-0.6717	10	0.87932	D	0	.	13.3599	0.60650	0.0:0.0:0.0:1.0	.	154	P28566	5HT1E_HUMAN	A	154	ENSP00000307766:S154A;ENSP00000358597:S154A	ENSP00000307766:S154A	S	+	1	0	HTR1E	87782231	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.528000	0.81941	1.570000	0.49709	0.332000	0.21555	TCC		PASS	0.557	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		4	153	4	153	---	---	---	---
C6orf165	154313	broad.mit.edu	37	6	88136346	88136346	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:88136346C>A	ENST00000507897.1	+	8	1026	c.943C>A	c.(943-945)Cca>Aca	p.P315T	C6ORF165_ENST00000369562.4_Missense_Mutation_p.P315T			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	315								p.P315T(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GATAGCGGTCCCAACATCACA	0.343																																						uc003plv.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(943-945)CCA>ACA		hypothetical protein LOC154313 isoform 1							66.0	63.0	64.0					6																	88136346		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88136346C>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.943C>A	6.37:g.88136346C>A	ENSP00000426769:p.Pro315Thr					C6orf165_uc003plw.2_Missense_Mutation_p.P127T|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.P315T	p.P315T	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	8	1035	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	315					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.943C>A	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632122	0.67015	.	.	ENSG00000213204	ENST00000369562	T	0.36878	1.23	5.7	5.7	0.88788	.	0.165045	0.53938	D	0.000044	T	0.54334	0.1852	M	0.76002	2.32	0.49483	D	0.999795	D;D	0.89917	0.999;1.0	D;D	0.79784	0.987;0.993	T	0.57236	-0.7846	10	0.72032	D	0.01	.	16.3288	0.82997	0.0:0.8592:0.1408:0.0	.	315;315	Q8IYR0;E1P509	CF165_HUMAN;.	T	315	ENSP00000358575:P315T	ENSP00000358575:P315T	P	+	1	0	C6orf165	88193065	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	4.090000	0.57693	2.692000	0.91855	0.467000	0.42956	CCA		PASS	0.343	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823		18	40	18	40	---	---	---	---
SIM1	6492	broad.mit.edu	37	6	100868805	100868805	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:100868805G>A	ENST00000369208.3	-	10	1810	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	SIM1_ENST00000262901.4_Missense_Mutation_p.S343F			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	343	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.S343F(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTGATCCAGGGAGAGCTGCAG	0.537																																						uc003pqj.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1027-1029)TCC>TTC		single-minded homolog 1							96.0	87.0	90.0					6																	100868805		2203	4300	6503	SO:0001583	missense	6492				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr6:100868805G>A	U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1028C>T	6.37:g.100868805G>A	ENSP00000358210:p.Ser343Phe					SIM1_uc010kcu.2_Missense_Mutation_p.S343F	p.S343F	NM_005068	NP_005059	P81133	SIM1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0774)	9	1235	-		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)	343			Single-minded C-terminal.		Q5TDP7	Missense_Mutation	SNP	ENST00000369208.3	37	c.1028C>T	CCDS5045.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916877	0.92249	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.04406	3.63;3.63	5.8	5.8	0.92144	Single-minded, C-terminal (1);	0.100553	0.64402	D	0.000001	T	0.13415	0.0325	L	0.61218	1.895	0.80722	D	1	D	0.63046	0.992	D	0.64237	0.923	T	0.00485	-1.1711	10	0.66056	D	0.02	.	20.0567	0.97653	0.0:0.0:1.0:0.0	.	343	P81133	SIM1_HUMAN	F	343	ENSP00000358210:S343F;ENSP00000262901:S343F	ENSP00000262901:S343F	S	-	2	0	SIM1	100975526	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.261000	0.95576	2.752000	0.94435	0.650000	0.86243	TCC		PASS	0.537	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041628.3	NM_005068		12	28	12	28	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	101311979	101311979	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:101311979C>T	ENST00000369162.2	-	3	546	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	ASCC3_ENST00000522650.1_Missense_Mutation_p.E68K|ASCC3_ENST00000369143.2_Missense_Mutation_p.E68K	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	68					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.E68K(2)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTTAAGTCTTCATTTATACTT	0.274																																						uc003pqk.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|skin(1)	6						c.(202-204)GAA>AAA		activating signal cointegrator 1 complex subunit							78.0	82.0	80.0					6																	101311979		2201	4297	6498	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101311979C>T	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.202G>A	6.37:g.101311979C>T	ENSP00000358159:p.Glu68Lys					ASCC3_uc011eai.1_Intron|ASCC3_uc003pql.2_Missense_Mutation_p.E68K|ASCC3_uc010kcv.2_Missense_Mutation_p.E68K|ASCC3_uc003pqm.2_Missense_Mutation_p.E68K	p.E68K	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	3	531	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	68			Potential.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.202G>A	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	C	8.882	0.951924	0.18431	.	.	ENSG00000112249	ENST00000369162;ENST00000522650;ENST00000324723;ENST00000369143	T;T;T	0.56941	0.48;0.43;0.95	5.32	3.5	0.40072	.	0.276675	0.36703	N	0.002458	T	0.22859	0.0552	L	0.54323	1.7	0.24066	N	0.995994	B;P;B;B	0.42871	0.02;0.792;0.02;0.0	B;B;B;B	0.40066	0.024;0.318;0.024;0.001	T	0.15867	-1.0422	10	0.12430	T	0.62	.	8.6964	0.34298	0.0:0.7624:0.1532:0.0845	.	68;68;68;68	Q4G1A0;Q9H5A2;E7EW23;Q8N3C0	.;.;.;HELC1_HUMAN	K	68	ENSP00000358159:E68K;ENSP00000430769:E68K;ENSP00000320777:E68K	ENSP00000320777:E68K	E	-	1	0	ASCC3	101418700	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.412000	0.52679	0.592000	0.29728	0.655000	0.94253	GAA		PASS	0.274	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		37	83	37	83	---	---	---	---
MICAL1	64780	broad.mit.edu	37	6	109766434	109766434	+	Silent	SNP	G	G	A	rs376575225		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:109766434G>A	ENST00000358807.3	-	22	3158	c.2847C>T	c.(2845-2847)ggC>ggT	p.G949G	MICAL1_ENST00000358577.3_Silent_p.G863G|MICAL1_ENST00000368952.4_Silent_p.G968G	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	949					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.G949G(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CCAGCTTCACGCCCTCGGCCT	0.577																																						uc003ptj.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)	3						c.(2845-2847)GGC>GGT		microtubule associated monoxygenase, calponin							60.0	59.0	59.0					6																	109766434		2203	4300	6503	SO:0001819	synonymous_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109766434G>A	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2847C>T	6.37:g.109766434G>A						MICAL1_uc003ptk.2_Silent_p.G949G|MICAL1_uc010kdr.2_Silent_p.G863G|MICAL1_uc011eaq.1_Silent_p.G968G	p.G949G	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	21	3101	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	949			Potential.		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Silent	SNP	ENST00000358807.3	37	c.2847C>T	CCDS5076.1																																																																																				PASS	0.577	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		30	55	30	55	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112451160	112451160	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:112451160T>A	ENST00000230538.7	-	30	4448	c.4051A>T	c.(4051-4053)Aag>Tag	p.K1351*	LAMA4_ENST00000389463.4_Nonsense_Mutation_p.K1344*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.K1344*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.K1344*	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1351	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.K1344*(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAAAACTTCTTTTCACTTGCT	0.363																																						uc003pvu.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(4051-4053)AAG>TAG		laminin, alpha 4 isoform 1 precursor							229.0	197.0	208.0					6																	112451160		2202	4299	6501	SO:0001587	stop_gained	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112451160T>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.4051A>T	6.37:g.112451160T>A	ENSP00000230538:p.Lys1351*					LAMA4_uc003pvv.2_Nonsense_Mutation_p.K1344*|LAMA4_uc003pvt.2_Nonsense_Mutation_p.K1344*	p.K1351*	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	30	4360	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1351			Laminin G-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Nonsense_Mutation	SNP	ENST00000230538.7	37	c.4051A>T	CCDS43491.1	.	.	.	.	.	.	.	.	.	.	T	46	12.809933	0.99698	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	.	.	.	5.81	4.64	0.57946	.	0.222714	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1224	0.59334	0.0:0.0:0.1339:0.8661	.	.	.	.	X	1351;1344;1344;1344	.	ENSP00000230538:K1351X	K	-	1	0	LAMA4	112557853	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.572000	0.67411	1.010000	0.39314	-0.472000	0.04984	AAG		PASS	0.363	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		34	70	34	70	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117683881	117683881	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:117683881G>C	ENST00000368508.3	-	21	3464	c.3266C>G	c.(3265-3267)tCc>tGc	p.S1089C	ROS1_ENST00000368507.3_Missense_Mutation_p.S1084C|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1089	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.S1089C(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTTTGATTGGATATATTGTA	0.368			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	uc003pxp.1				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	GOPC|ROS1		glioblastoma|NSCLC		2	Substitution - Missense(2)		lung(2)	lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1)	25						c.(3265-3267)TCC>TGC		proto-oncogene c-ros-1 protein precursor							118.0	122.0	121.0					6																	117683881		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117683881G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3266C>G	6.37:g.117683881G>C	ENSP00000357494:p.Ser1089Cys					ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron	p.S1089C	NM_002944	NP_002935	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	21	3465	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1089			Fibronectin type-III 5.|Extracellular (Potential).		Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3266C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755818	0.31046	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.57273	0.41;0.41	5.03	4.16	0.48862	.	0.305245	0.29087	N	0.013195	T	0.42787	0.1218	L	0.54323	1.7	0.80722	D	1	D	0.59767	0.986	P	0.54499	0.754	T	0.41233	-0.9520	10	0.35671	T	0.21	.	7.0023	0.24817	0.2763:0.0:0.7237:0.0	.	1089	P08922	ROS1_HUMAN	C	1089;1084	ENSP00000357494:S1089C;ENSP00000357493:S1084C	ENSP00000357493:S1084C	S	-	2	0	ROS1	117790574	0.104000	0.21937	0.996000	0.52242	0.139000	0.21198	1.556000	0.36288	1.447000	0.47661	0.655000	0.94253	TCC		PASS	0.368	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			4	163	4	163	---	---	---	---
GJA1	2697	broad.mit.edu	37	6	121768134	121768134	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:121768134T>C	ENST00000282561.3	+	2	298	c.141T>C	c.(139-141)gaT>gaC	p.D47D		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	47			D -> H (in ODDD). {ECO:0000269|PubMed:24508941}.		adult heart development (GO:0007512)|apoptotic process (GO:0006915)|ATP transport (GO:0015867)|atrial cardiac muscle cell action potential (GO:0086014)|atrial ventricular junction remodeling (GO:0003294)|blood vessel morphogenesis (GO:0048514)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|cell-cell signaling (GO:0007267)|cellular response to mechanical stimulus (GO:0071260)|chronic inflammatory response (GO:0002544)|embryonic digit morphogenesis (GO:0042733)|endothelium development (GO:0003158)|epithelial cell maturation (GO:0002070)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lens development in camera-type eye (GO:0002088)|membrane organization (GO:0061024)|milk ejection (GO:0060156)|muscle contraction (GO:0006936)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of gene expression (GO:0010629)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|osteoblast differentiation (GO:0001649)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of cell communication by chemical coupling (GO:0010652)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of striated muscle tissue development (GO:0045844)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein oligomerization (GO:0051259)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of bone mineralization (GO:0030500)|regulation of bone remodeling (GO:0046850)|regulation of calcium ion transport (GO:0051924)|regulation of tight junction assembly (GO:2000810)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to fluid shear stress (GO:0034405)|response to peptide hormone (GO:0043434)|response to pH (GO:0009268)|signal transduction (GO:0007165)|skeletal muscle tissue regeneration (GO:0043403)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vascular transport (GO:0010232)	apical plasma membrane (GO:0016324)|connexon complex (GO:0005922)|contractile fiber (GO:0043292)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gap junction (GO:0005921)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial outer membrane (GO:0005741)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion transmembrane transporter activity (GO:0015075)|signal transducer activity (GO:0004871)	p.D47D(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CCTGGGGAGATGAGCAGTCTG	0.512																																						uc003pyr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(139-141)GAT>GAC		connexin 43	Carvedilol(DB01136)						94.0	84.0	87.0					6																	121768134		2203	4300	6503	SO:0001819	synonymous_variant	2697				cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity	g.chr6:121768134T>C	BC026329	CCDS5123.1	6q22.31	2013-05-10	2007-01-16		ENSG00000152661	ENSG00000152661		"""Ion channels / Gap junction proteins (connexins)"""	4274	protein-coding gene	gene with protein product	"""oculodentodigital dysplasia (syndactyly type III)"", ""connexin 43"""	121014	"""gap junction protein, alpha-like"", ""gap junction protein, alpha 1, 43kDa (connexin 43)"""	ODDD, GJAL		10331943, 1646158	Standard	NM_000165		Approved	CX43, ODD, ODOD, SDTY3	uc003pyr.3	P17302	OTTHUMG00000015479	ENST00000282561.3:c.141T>C	6.37:g.121768134T>C						GJA1_uc011ebo.1_5'UTR|GJA1_uc011ebp.1_5'UTR	p.D47D	NM_000165	NP_000156	P17302	CXA1_HUMAN		GBM - Glioblastoma multiforme(226;0.00252)	2	391	+			47			Extracellular (Potential).		B2R5U9|Q6FHU1|Q9Y5I8	Silent	SNP	ENST00000282561.3	37	c.141T>C	CCDS5123.1																																																																																				PASS	0.512	GJA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042023.1	NM_000165		39	91	39	91	---	---	---	---
NKAIN2	154215	broad.mit.edu	37	6	124676411	124676411	+	Splice_Site	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:124676411A>T	ENST00000368417.1	+	3	252		c.e3-1		NKAIN2_ENST00000368416.1_Splice_Site|NKAIN2_ENST00000546092.1_Splice_Site|NKAIN2_ENST00000476571.1_Splice_Site|NKAIN2_ENST00000545433.1_Splice_Site	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.?(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GCTTCTCTACAGTATGCTGTC	0.373																																						uc003pzo.2																			1	Unknown(1)		lung(1)		0						c.e3-2		T-cell lymphoma breakpoint-associated target 1							275.0	255.0	262.0					6																	124676411		2203	4300	6503	SO:0001630	splice_region_variant	154215					integral to membrane|plasma membrane		g.chr6:124676411A>T	AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.193-1A>T	6.37:g.124676411A>T						NKAIN2_uc003pzn.1_Splice_Site_p.Y65_splice|NKAIN2_uc003pzp.2_Splice_Site_p.Y64_splice|NKAIN2_uc010keq.2_Splice_Site_p.Y65_splice|NKAIN2_uc010ker.2_Splice_Site	p.Y65_splice	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN		GBM - Glioblastoma multiforme(226;0.104)	3	470	+								Q8IYR4|Q8TF67	Splice_Site	SNP	ENST00000368417.1	37	c.193_splice	CCDS34526.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.011780	0.75046	.	.	ENSG00000188580	ENST00000368416;ENST00000368417;ENST00000546092;ENST00000539866;ENST00000545433	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0378	0.80642	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NKAIN2	124718110	1.000000	0.71417	0.997000	0.53966	0.846000	0.48090	7.972000	0.88022	2.190000	0.69967	0.528000	0.53228	.		PASS	0.373	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042057.1	NM_001040214	Intron	81	168	81	168	---	---	---	---
NCOA7	135112	broad.mit.edu	37	6	126210679	126210679	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:126210679G>T	ENST00000368357.3	+	10	1831	c.1479G>T	c.(1477-1479)atG>atT	p.M493I	NCOA7_ENST00000392477.2_Missense_Mutation_p.M493I|NCOA7_ENST00000229634.9_Missense_Mutation_p.M378I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	493					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)	p.M493I(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AAGATATAATGCCAGAAGTGG	0.418																																						uc010kes.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(1477-1479)ATG>ATT		nuclear receptor coactivator 7 isoform 1							52.0	54.0	54.0					6																	126210679		2202	4299	6501	SO:0001583	missense	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126210679G>T	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.1479G>T	6.37:g.126210679G>T	ENSP00000357341:p.Met493Ile					NCOA7_uc003qae.3_Missense_Mutation_p.M493I|NCOA7_uc003qah.2_Missense_Mutation_p.M482I|NCOA7_uc003qai.2_Missense_Mutation_p.M493I|NCOA7_uc010ket.2_Missense_Mutation_p.M378I	p.M493I	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	11	1928	+			493					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Missense_Mutation	SNP	ENST00000368357.3	37	c.1479G>T	CCDS5132.1	.	.	.	.	.	.	.	.	.	.	G	4.948	0.176154	0.09443	.	.	ENSG00000111912	ENST00000368357;ENST00000392477;ENST00000229634;ENST00000413085	T;T;T;T	0.27720	2.88;2.88;2.88;1.65	5.8	1.97	0.26223	.	0.962225	0.08748	N	0.899494	T	0.04497	0.0123	N	0.14661	0.345	0.20821	N	0.999843	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41822	-0.9487	10	0.20046	T	0.44	-0.3116	2.3547	0.04293	0.1415:0.1959:0.4472:0.2154	.	482;482;493	B3KXK4;Q8NI08-2;Q8NI08	.;.;NCOA7_HUMAN	I	493;493;378;291	ENSP00000357341:M493I;ENSP00000376269:M493I;ENSP00000229634:M378I;ENSP00000389186:M291I	ENSP00000229634:M378I	M	+	3	0	NCOA7	126252372	0.381000	0.25140	0.829000	0.32907	0.989000	0.77384	0.287000	0.18920	0.359000	0.24239	0.655000	0.94253	ATG		PASS	0.418	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		4	88	4	88	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127796469	127796469	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:127796469C>T	ENST00000525778.1	-	6	3447	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	SOGA3_ENST00000368268.2_Missense_Mutation_p.R901H|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000556132.1_Missense_Mutation_p.R901H|SOGA3_ENST00000465909.2_Missense_Mutation_p.R901H|SOGA3_ENST00000481848.2_Missense_Mutation_p.R901H			Q5TF21	SOGA3_HUMAN	SOGA family member 3	901					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.R901L(1)|p.R901H(1)									CTCGGCGCCGCGGTCGTCCGC	0.667																																						uc003qbd.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	breast(3)|ovary(2)|skin(1)	6						c.(2701-2703)CGC>CAC		hypothetical protein LOC387104 precursor							39.0	44.0	43.0					6																	127796469		2143	4247	6390	SO:0001583	missense	387104					integral to membrane		g.chr6:127796469C>T	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.2702G>A	6.37:g.127796469C>T	ENSP00000434570:p.Arg901His					C6orf174_uc003qbc.2_5'UTR	p.R901H	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161)	6	3567	-			901						Missense_Mutation	SNP	ENST00000525778.1	37	c.2702G>A	CCDS43505.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215914	0.39201	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.35789	1.33;1.33;1.33;1.29	5.73	2.94	0.34122	.	0.265266	0.41823	N	0.000820	T	0.11965	0.0291	L	0.47716	1.5	0.09310	N	0.999999	B	0.02656	0.0	B	0.10450	0.005	T	0.26258	-1.0108	10	0.56958	D	0.05	-0.2499	4.9453	0.13985	0.1206:0.6227:0.1244:0.1324	.	901	Q5TF21	CF174_HUMAN	H	901	ENSP00000451768:R901H;ENSP00000357251:R901H;ENSP00000434570:R901H;ENSP00000435559:R901H	ENSP00000435559:R901H	R	-	2	0	C6orf174	127838162	0.052000	0.20516	0.073000	0.20177	0.631000	0.37964	0.900000	0.28431	0.320000	0.23234	0.561000	0.74099	CGC		PASS	0.667	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		37	66	37	66	---	---	---	---
BCLAF1	9774	broad.mit.edu	37	6	136599046	136599046	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:136599046C>A	ENST00000531224.1	-	4	1225	c.973G>T	c.(973-975)Ggt>Tgt	p.G325C	BCLAF1_ENST00000353331.4_Missense_Mutation_p.G323C|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G323C|BCLAF1_ENST00000527759.1_Missense_Mutation_p.G323C|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G325C|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G325C	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	325					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.G325C(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGATCTCCACCATCAGGATAA	0.388																																					Colon(142;1534 1789 5427 7063 28491)	uc003qgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(973-975)GGT>TGT		BCL2-associated transcription factor 1 isoform							88.0	89.0	89.0					6																	136599046		2202	4300	6502	SO:0001583	missense	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136599046C>A	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.973G>T	6.37:g.136599046C>A	ENSP00000435210:p.Gly325Cys					BCLAF1_uc003qgw.1_Missense_Mutation_p.G325C|BCLAF1_uc003qgy.1_Missense_Mutation_p.G323C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.G323C	p.G325C	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	4	1226	-	Colorectal(23;0.24)		325					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	37	c.973G>T	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	C	8.673	0.903208	0.17760	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.14516	2.85;2.84;2.85;2.5;2.86;2.84;2.66	5.23	3.46	0.39613	.	0.207502	0.33712	N	0.004632	T	0.03178	0.0093	N	0.08118	0	0.80722	D	1	B;B;B;B	0.31351	0.115;0.32;0.115;0.115	B;B;B;B	0.36418	0.224;0.224;0.224;0.224	T	0.37150	-0.9718	10	0.59425	D	0.04	-2.7849	9.2226	0.37386	0.0:0.7106:0.0:0.2894	.	323;323;325;325	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	C	325;323;325;325;323;323;325	ENSP00000435210:G325C;ENSP00000229446:G323C;ENSP00000435441:G325C;ENSP00000436501:G325C;ENSP00000434826:G323C;ENSP00000376159:G323C;ENSP00000431734:G325C	ENSP00000229446:G323C	G	-	1	0	BCLAF1	136640739	0.832000	0.29368	1.000000	0.80357	0.997000	0.91878	0.958000	0.29227	0.708000	0.31955	0.650000	0.86243	GGT		PASS	0.388	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739		24	198	24	198	---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137524818	137524818	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:137524818T>C	ENST00000367739.4	-	5	672	c.551A>G	c.(550-552)cAg>cGg	p.Q184R	IFNGR1_ENST00000367735.2_3'UTR|IFNGR1_ENST00000478333.1_5'Flank|IFNGR1_ENST00000543628.1_Missense_Mutation_p.Q156R	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	184					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)	p.Q184R(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TATTTTATACTGGATCTAGAT	0.358																																						uc003qho.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(550-552)CAG>CGG		interferon gamma receptor 1 precursor	Interferon gamma-1b(DB00033)						65.0	60.0	62.0					6																	137524818		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137524818T>C		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.551A>G	6.37:g.137524818T>C	ENSP00000356713:p.Gln184Arg					IFNGR1_uc011edm.1_Missense_Mutation_p.Q156R|IFNGR1_uc011edn.1_3'UTR	p.Q184R	NM_000416	NP_000407	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	5	654	-	Colorectal(23;0.24)		184			Extracellular (Potential).		B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.551A>G	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	T	2.932	-0.220784	0.06061	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076	T;T;T	0.41065	1.01;1.01;1.01	4.32	-8.64	0.00874	Interferon gamma receptor, poxvirus/mammal (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	2.861210	0.02095	N	0.053459	T	0.04092	0.0114	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.13602	-1.0503	10	0.16420	T	0.52	9.5609	0.7064	0.00917	0.4074:0.2176:0.1504:0.2246	.	156;184	F5H5M7;P15260	.;INGR1_HUMAN	R	184;184;156;150	ENSP00000356713:Q184R;ENSP00000443282:Q156R;ENSP00000389249:Q150R	ENSP00000356713:Q184R	Q	-	2	0	IFNGR1	137566511	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.193000	0.00142	-2.452000	0.00542	-1.366000	0.01203	CAG		PASS	0.358	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			16	66	16	66	---	---	---	---
GPR126	57211	broad.mit.edu	37	6	142736163	142736163	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:142736163A>C	ENST00000230173.6	+	19	3075	c.2599A>C	c.(2599-2601)Atc>Ctc	p.I867L	GPR126_ENST00000367609.3_Missense_Mutation_p.I867L|GPR126_ENST00000296932.8_Missense_Mutation_p.I839L|GPR126_ENST00000367608.2_Missense_Mutation_p.I839L	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	867					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.I838L(1)|p.I867L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CCTCACTTTCATCAGCTATAT	0.393																																						uc010khc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2599-2601)ATC>CTC		G protein-coupled receptor 126 alpha 1							155.0	148.0	150.0					6																	142736163		1865	4110	5975	SO:0001583	missense	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142736163A>C	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2599A>C	6.37:g.142736163A>C	ENSP00000230173:p.Ile867Leu					GPR126_uc010khd.2_Missense_Mutation_p.I839L|GPR126_uc010khe.2_Missense_Mutation_p.I867L|GPR126_uc010khf.2_Missense_Mutation_p.I839L	p.I867L	NM_020455	NP_065188	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	19	3010	+	Breast(32;0.176)		867			Helical; Name=1; (Potential).		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.2599A>C	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	A	16.45	3.126726	0.56721	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.91	2.11	0.27256	GPCR, family 2-like (1);	0.250248	0.34750	N	0.003710	T	0.20536	0.0494	L	0.56199	1.76	0.58432	D	0.999996	B;B;B;B	0.21688	0.019;0.019;0.048;0.059	B;B;B;B	0.24974	0.034;0.034;0.034;0.057	T	0.06499	-1.0823	10	0.56958	D	0.05	.	8.6375	0.33957	0.6944:0.2426:0.063:0.0	.	839;867;839;867	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	L	867;839;839;867	ENSP00000230173:I867L;ENSP00000356580:I839L;ENSP00000296932:I839L;ENSP00000356581:I867L	ENSP00000230173:I867L	I	+	1	0	GPR126	142777856	1.000000	0.71417	0.998000	0.56505	0.819000	0.46315	4.214000	0.58527	0.123000	0.18342	0.528000	0.53228	ATC		PASS	0.393	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			4	109	4	109	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146480689	146480689	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:146480689C>T	ENST00000282753.1	+	2	1141	c.906C>T	c.(904-906)gcC>gcT	p.A302A	GRM1_ENST00000392299.2_Silent_p.A302A|GRM1_ENST00000361719.2_Silent_p.A302A|GRM1_ENST00000355289.4_Silent_p.A302A|GRM1_ENST00000492807.2_Silent_p.A302A|GRM1_ENST00000507907.1_Silent_p.A302A			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	302					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A302A(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TCCTGAGCGCCATGCGGCGCC	0.557																																						uc010khw.1																			2	Substitution - coding silent(2)		lung(2)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(904-906)GCC>GCT		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						72.0	69.0	70.0					6																	146480689		2203	4300	6503	SO:0001819	synonymous_variant	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480689C>T	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.906C>T	6.37:g.146480689C>T						GRM1_uc010khu.1_Silent_p.A302A|GRM1_uc010khv.1_Silent_p.A302A|GRM1_uc003qll.2_Silent_p.A302A|GRM1_uc011edz.1_Silent_p.A302A|GRM1_uc011eea.1_Silent_p.A302A	p.A302A	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1376	+		Ovarian(120;0.0387)	302			Extracellular (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Silent	SNP	ENST00000282753.1	37	c.906C>T	CCDS5209.1																																																																																				PASS	0.557	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		17	76	17	76	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755690	146755690	+	Missense_Mutation	SNP	C	C	G	rs202111427		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:146755690C>G	ENST00000282753.1	+	8	3578	c.3343C>G	c.(3343-3345)Cgg>Ggg	p.R1115G	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_Missense_Mutation_p.R1115G|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000507907.1_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1115	Asp/Glu-rich (acidic).				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R1115G(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		TGAGCACGAGCGGGAAGGGAA	0.632																																						uc010khw.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(3343-3345)CGG>GGG		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						70.0	76.0	74.0					6																	146755690		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755690C>G	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3343C>G	6.37:g.146755690C>G	ENSP00000282753:p.Arg1115Gly					GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.R1115G	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3813	+		Ovarian(120;0.0387)	1115			Asp/Glu-rich (acidic).|Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.3343C>G	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.338733	0.24253	.	.	ENSG00000152822	ENST00000361719;ENST00000282753	D;D	0.88046	-2.33;-2.33	5.84	4.96	0.65561	.	0.465426	0.22879	N	0.054526	T	0.70561	0.3238	L	0.40543	1.245	0.80722	D	1	B	0.20261	0.043	B	0.17979	0.02	T	0.66803	-0.5831	10	0.20519	T	0.43	.	12.0255	0.53368	0.3124:0.6876:0.0:0.0	.	1115	Q13255	GRM1_HUMAN	G	1115	ENSP00000354896:R1115G;ENSP00000282753:R1115G	ENSP00000282753:R1115G	R	+	1	2	GRM1	146797383	0.998000	0.40836	1.000000	0.80357	0.980000	0.70556	0.008000	0.13197	1.447000	0.47661	0.561000	0.74099	CGG		PASS	0.632	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		47	119	47	119	---	---	---	---
LATS1	9113	broad.mit.edu	37	6	150023190	150023190	+	Missense_Mutation	SNP	C	C	A	rs541940327		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:150023190C>A	ENST00000543571.1	-	2	620	c.73G>T	c.(73-75)Gtc>Ttc	p.V25F	LATS1_ENST00000392273.3_Missense_Mutation_p.V25F|LATS1_ENST00000253339.5_Missense_Mutation_p.V25F|LATS1_ENST00000542747.1_5'Flank	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1									p.V25F(2)		central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CGGCTACTGACAGTATAGTTA	0.408																																						uc003qmu.1																			2	Substitution - Missense(2)		lung(2)	lung(5)|central_nervous_system(1)	6						c.(73-75)GTC>TTC		LATS homolog 1							127.0	126.0	126.0					6																	150023190		2203	4300	6503	SO:0001583	missense	9113				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity	g.chr6:150023190C>A	AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.73G>T	6.37:g.150023190C>A	ENSP00000437550:p.Val25Phe					LATS1_uc010kif.1_5'UTR|LATS1_uc003qmv.1_Missense_Mutation_p.V25F|LATS1_uc003qmw.2_Missense_Mutation_p.V25F|LATS1_uc010kig.1_5'UTR	p.V25F	NM_004690	NP_004681	O95835	LATS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)	2	621	-		Ovarian(120;0.0164)	25						Missense_Mutation	SNP	ENST00000543571.1	37	c.73G>T	CCDS34551.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530030	0.64860	.	.	ENSG00000131023	ENST00000543571;ENST00000253339;ENST00000392273	T;T;T	0.22539	1.95;1.95;1.95	5.33	5.33	0.75918	.	0.000000	0.53938	D	0.000045	T	0.05044	0.0135	N	0.08118	0	0.29005	N	0.887225	B;B	0.12630	0.006;0.001	B;B	0.09377	0.004;0.0	T	0.20538	-1.0272	9	.	.	.	.	19.192	0.93671	0.0:1.0:0.0:0.0	.	25;25	O95835-2;O95835	.;LATS1_HUMAN	F	25	ENSP00000437550:V25F;ENSP00000253339:V25F;ENSP00000444678:V25F	.	V	-	1	0	LATS1	150064883	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	7.320000	0.79064	2.774000	0.95407	0.491000	0.48974	GTC		PASS	0.408	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043923.4	NM_004690		41	130	41	130	---	---	---	---
RGS17	26575	broad.mit.edu	37	6	153332881	153332881	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:153332881C>A	ENST00000367225.2	-	4	485	c.461G>T	c.(460-462)cGa>cTa	p.R154L	RGS17_ENST00000206262.1_Missense_Mutation_p.R154L			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	154	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.R154L(1)		cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		CTCTCTAACTCGAGAATCAAG	0.318																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	uc003qpm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(460-462)CGA>CTA		regulator of G-protein signalling 17							49.0	49.0	49.0					6																	153332881		2203	4300	6503	SO:0001583	missense	26575	Lung_Cancer_Familial_Clustering_of			negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153332881C>A	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.461G>T	6.37:g.153332881C>A	ENSP00000356194:p.Arg154Leu						p.R154L	NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	5	617	-		Ovarian(120;0.126)	154			RGS.		Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	37	c.461G>T	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.324944	0.81580	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.01981	4.52;4.52	5.19	5.19	0.71726	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.062449	0.64402	D	0.000004	T	0.08758	0.0217	M	0.86420	2.815	0.80722	D	1	D	0.55172	0.97	P	0.57283	0.817	T	0.02333	-1.1175	10	0.62326	D	0.03	-13.1484	19.1288	0.93396	0.0:1.0:0.0:0.0	.	154	Q9UGC6	RGS17_HUMAN	L	154	ENSP00000356194:R154L;ENSP00000206262:R154L	ENSP00000206262:R154L	R	-	2	0	RGS17	153374574	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.944000	0.70219	2.585000	0.87301	0.551000	0.68910	CGA		PASS	0.318	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			3	104	3	104	---	---	---	---
SCAF8	22828	broad.mit.edu	37	6	155116180	155116180	+	Silent	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:155116180C>G	ENST00000367178.3	+	6	1089	c.513C>G	c.(511-513)gtC>gtG	p.V171V	SCAF8_ENST00000417268.1_Silent_p.V171V|SCAF8_ENST00000367186.4_Silent_p.V237V	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	171					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)	p.V171V(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CCAATGTGGTCCAAGGCTTAC	0.443																																						uc003qqa.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(511-513)GTC>GTG		RNA-binding motif protein 16							132.0	123.0	126.0					6																	155116180		2203	4300	6503	SO:0001819	synonymous_variant	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155116180C>G	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.513C>G	6.37:g.155116180C>G						RBM16_uc011efj.1_Silent_p.V237V|RBM16_uc011efk.1_Silent_p.V216V|RBM16_uc003qpz.2_Silent_p.V171V|RBM16_uc010kji.2_Silent_p.V192V	p.V171V	NM_014892	NP_055707	Q9UPN6	SCAF8_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.33e-15)|BRCA - Breast invasive adenocarcinoma(81;0.00524)	7	745	+		Ovarian(120;0.196)	171					B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Silent	SNP	ENST00000367178.3	37	c.513C>G	CCDS5247.1																																																																																				PASS	0.443	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		13	187	13	187	---	---	---	---
RSPH3	83861	broad.mit.edu	37	6	159404818	159404818	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:159404818G>C	ENST00000252655.1	-	4	983	c.794C>G	c.(793-795)gCt>gGt	p.A265G	RSPH3_ENST00000297262.3_Intron|RSPH3_ENST00000367069.2_Missense_Mutation_p.A123G|RSPH3_ENST00000449822.1_Intron	NM_031924.4	NP_114130.3	Q86UC2	RSPH3_HUMAN	radial spoke 3 homolog (Chlamydomonas)	265								p.A265G(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		TATGCGATCAGCAATTTCTTC	0.388																																						uc003qrx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(793-795)GCT>GGT		radial spoke 3 homolog							127.0	119.0	121.0					6																	159404818		2203	4300	6503	SO:0001583	missense	83861							g.chr6:159404818G>C	AF353618	CCDS5260.1	6q25.3	2014-05-16	2008-07-04	2007-06-26	ENSG00000130363	ENSG00000130363			21054	protein-coding gene	gene with protein product		615876	"""radial spokehead-like 2"""	RSHL2		12477932	Standard	NM_031924		Approved	dJ111C20.1, RSP3	uc003qrx.3	Q86UC2	OTTHUMG00000015924	ENST00000252655.1:c.794C>G	6.37:g.159404818G>C	ENSP00000252655:p.Ala265Gly					RSPH3_uc010kju.2_Intron|RSPH3_uc003qry.1_Missense_Mutation_p.A265G	p.A265G	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)	4	984	-		Breast(66;0.00519)|Ovarian(120;0.123)	265					Q96LQ5|Q96LX2|Q9BX75	Missense_Mutation	SNP	ENST00000252655.1	37	c.794C>G	CCDS5260.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980244	0.74474	.	.	ENSG00000130363	ENST00000367069;ENST00000252655	T;T	0.17854	2.25;2.25	5.95	5.03	0.67393	.	0.087949	0.85682	D	0.000000	T	0.19604	0.0471	L	0.38175	1.15	0.80722	D	1	D	0.63880	0.993	D	0.63192	0.912	T	0.00555	-1.1673	10	0.33940	T	0.23	-21.79	15.5191	0.75851	0.0:0.263:0.737:0.0	.	265	Q86UC2	RSPH3_HUMAN	G	123;265	ENSP00000356036:A123G;ENSP00000252655:A265G	ENSP00000252655:A265G	A	-	2	0	RSPH3	159324806	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.051000	0.57412	2.824000	0.97209	0.655000	0.94253	GCT		PASS	0.388	RSPH3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031924		3	130	3	130	---	---	---	---
LPA	4018	broad.mit.edu	37	6	160978440	160978440	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:160978440C>T	ENST00000316300.5	-	29	4839	c.4795G>A	c.(4795-4797)Gag>Aag	p.E1599K	LPA_ENST00000447678.1_Missense_Mutation_p.E1599K			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4107	Kringle 14. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.E1599K(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAATGAGCCTCCATGCTTGGA	0.463																																						uc003qtl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|pancreas(1)	6						c.(4795-4797)GAG>AAG		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)						127.0	120.0	123.0					6																	160978440		1958	4186	6144	SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160978440C>T	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4795G>A	6.37:g.160978440C>T	ENSP00000321334:p.Glu1599Lys						p.E1599K	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	30	4915	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4107			Kringle 36.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.4795G>A	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	c	11.87	1.768296	0.31320	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.86956	-2.19;-2.19	2.56	-1.22	0.09494	Kringle (1);	.	.	.	.	T	0.80757	0.4684	L	0.51422	1.61	0.09310	N	1	P	0.45715	0.865	P	0.57620	0.824	T	0.71361	-0.4616	9	0.45353	T	0.12	.	5.2713	0.15627	0.0:0.3073:0.5392:0.1535	.	4107	P08519	APOA_HUMAN	K	1599	ENSP00000321334:E1599K;ENSP00000395608:E1599K	ENSP00000321334:E1599K	E	-	1	0	LPA	160898430	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-0.159000	0.11021	0.436000	0.28706	GAG		PASS	0.463	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577		50	116	50	116	---	---	---	---
MPC1	51660	broad.mit.edu	37	6	166780282	166780282	+	Splice_Site	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:166780282C>T	ENST00000360961.6	-	3	294		c.e3+1		MPC1_ENST00000341756.6_Splice_Site|MPC1_ENST00000487218.1_Splice_Site	NM_001270879.1|NM_016098.3	NP_001257808.1|NP_057182.1	Q9Y5U8	MPC1_HUMAN	mitochondrial pyruvate carrier 1						cellular metabolic process (GO:0044237)|mitochondrial pyruvate transport (GO:0006850)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	pyruvate transmembrane transporter activity (GO:0050833)	p.?(1)									TGCATTCTTACCAAATGTCAT	0.433																																						uc011egn.1																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e2+1		brain protein 44-like							127.0	130.0	129.0					6																	166780282		2203	4300	6503	SO:0001630	splice_region_variant	51660					mitochondrion		g.chr6:166780282C>T	AF125101	CCDS5293.1, CCDS75547.1	6q27	2012-08-01	2012-07-30	2012-07-30	ENSG00000060762	ENSG00000060762			21606	protein-coding gene	gene with protein product		614738	"""brain protein 44-like"""	BRP44L		22628558	Standard	NM_016098		Approved	dJ68L15.3, CGI-129	uc031sra.1	Q9Y5U8	OTTHUMG00000015999	ENST00000360961.6:c.172+1G>A	6.37:g.166780282C>T						BRP44L_uc003qva.2_Splice_Site	p.A58_splice	NM_016098	NP_057182	Q9Y5U8	BR44L_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.8e-19)|BRCA - Breast invasive adenocarcinoma(81;4.68e-06)|GBM - Glioblastoma multiforme(31;0.000122)	2	294	-		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)						B2R5I7|Q5TI66|Q9HB67|Q9UQN4	Splice_Site	SNP	ENST00000360961.6	37	c.172_splice	CCDS5293.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.416266	0.62511	.	.	ENSG00000060762	ENST00000360961;ENST00000341756;ENST00000392123	.	.	.	4.48	4.48	0.54585	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0206	0.71627	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRP44L	166700272	1.000000	0.71417	0.999000	0.59377	0.716000	0.41182	6.898000	0.75676	2.199000	0.70637	0.655000	0.94253	.		PASS	0.433	MPC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043052.1	NM_016098	Intron	64	156	64	156	---	---	---	---
KIF25	3834	broad.mit.edu	37	6	168440882	168440882	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:168440882G>A	ENST00000443060.2	+	7	1023	c.632G>A	c.(631-633)tGc>tAc	p.C211Y	KIF25_ENST00000354419.2_Missense_Mutation_p.C211Y|KIF25_ENST00000351261.3_Missense_Mutation_p.C211Y			Q9UIL4	KIF25_HUMAN	kinesin family member 25	211	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.C211Y(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		ACAGCCTCCTGCTCTGACAGC	0.522																																						uc003qwk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(631-633)TGC>TAC		kinesin family member 25 isoform 1							62.0	53.0	56.0					6																	168440882		2203	4300	6503	SO:0001583	missense	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168440882G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.632G>A	6.37:g.168440882G>A	ENSP00000388878:p.Cys211Tyr					KIF25_uc003qwl.1_Missense_Mutation_p.C211Y	p.C211Y	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	6	894	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	211			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.632G>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	8.349	0.830517	0.16749	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.74526	-0.85;-0.85;-0.85	4.09	2.26	0.28386	Kinesin, motor domain (4);	0.585786	0.15611	N	0.253400	T	0.26882	0.0658	N	0.12182	0.205	0.09310	N	1	P;B	0.36647	0.563;0.192	B;B	0.21151	0.033;0.011	T	0.06445	-1.0826	10	0.56958	D	0.05	-5.404	5.4622	0.16624	0.0:0.6337:0.2458:0.1204	.	211;211	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	Y	211	ENSP00000388878:C211Y;ENSP00000346401:C211Y;ENSP00000252688:C211Y	ENSP00000252688:C211Y	C	+	2	0	KIF25	168183731	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.832000	0.27490	0.179000	0.19938	0.411000	0.27672	TGC		PASS	0.522	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			11	27	11	27	---	---	---	---
THBS2	7058	broad.mit.edu	37	6	169632797	169632797	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:169632797C>A	ENST00000366787.3	-	13	2143	c.1894G>T	c.(1894-1896)Gtc>Ttc	p.V632F	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	632					cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.V632F(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCGACCCCGACGGGCTGGTTC	0.607																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1894-1896)GTC>TTC		thrombospondin 2 precursor							64.0	69.0	67.0					6																	169632797		2203	4299	6502	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169632797C>A		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.1894G>T	6.37:g.169632797C>A	ENSP00000355751:p.Val632Phe						p.V632F	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	13	2142	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	632			EGF-like 2; calcium-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.1894G>T	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.101043	0.00360	.	.	ENSG00000186340	ENST00000366787	T	0.80738	-1.41	4.1	-0.42	0.12336	Epidermal growth factor-like (1);	0.806480	0.10364	N	0.683612	T	0.27098	0.0664	N	0.02802	-0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35151	-0.9800	10	0.07990	T	0.79	-7.8239	6.3604	0.21425	0.5542:0.2814:0.0:0.1644	.	632	P35442	TSP2_HUMAN	F	632	ENSP00000355751:V632F	ENSP00000355751:V632F	V	-	1	0	THBS2	169374722	0.712000	0.27916	0.026000	0.17262	0.009000	0.06853	4.654000	0.61469	0.081000	0.16988	-0.491000	0.04670	GTC		PASS	0.607	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		36	92	36	92	---	---	---	---
SUN1	23353	broad.mit.edu	37	7	908998	908998	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:908998C>T	ENST00000405266.1	+	18	2128	c.2104C>T	c.(2104-2106)Ccc>Tcc	p.P702S	SUN1_ENST00000452783.2_Missense_Mutation_p.P562S|SUN1_ENST00000389574.3_Missense_Mutation_p.P582S|SUN1_ENST00000401592.1_Missense_Mutation_p.P665S|SUN1_ENST00000413514.2_Missense_Mutation_p.P463S|SUN1_ENST00000425407.2_Missense_Mutation_p.P582S|SUN1_ENST00000456758.2_Missense_Mutation_p.P854S			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	692	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)		p.P665S(1)|p.P582S(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGACATTTACCCCGGTAACTG	0.522																																						uc011jvp.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1993-1995)CCC>TCC		unc-84 homolog A isoform a							164.0	163.0	164.0					7																	908998		1929	4135	6064	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:908998C>T	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.2104C>T	7.37:g.908998C>T	ENSP00000384116:p.Pro702Ser					GET4_uc003sjj.1_Intron|SUN1_uc003sjf.2_Missense_Mutation_p.P582S|SUN1_uc011jvq.1_Missense_Mutation_p.P562S|SUN1_uc003sjg.2_Missense_Mutation_p.P570S|SUN1_uc011jvr.1_Missense_Mutation_p.P463S|SUN1_uc003sji.2_Missense_Mutation_p.P503S|SUN1_uc003sjk.2_Missense_Mutation_p.P304S	p.P665S	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			18	2072	+			692			Perinuclear space.|SUN.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000405266.1	37	c.1993C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.29|19.29	3.799451|3.799451	0.70567|0.70567	.|.	.|.	ENSG00000164828|ENSG00000164828	ENST00000433212|ENST00000456758;ENST00000389574;ENST00000452783;ENST00000405266;ENST00000401592;ENST00000297445;ENST00000425407;ENST00000429178;ENST00000413514	.|T;T;T;T;T;T;T;T	.|0.49720	.|0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Sad1/UNC-like, C-terminal (2);	0.096791|0.096791	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.73210|0.73210	0.3558|0.3558	M|M	0.83118|0.83118	2.625|2.625	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.97110	.|1.0;1.0;0.999;1.0;0.999;0.999	T|T	0.76694|0.76694	-0.2865|-0.2865	6|10	.|0.72032	.|D	.|0.01	-24.508|-24.508	19.4695|19.4695	0.94958|0.94958	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|463;562;665;854;692;582	.|E7EP45;E9PDU4;E9PF23;A4D2Q0;O94901;O94901-5	.|.;.;.;.;SUN1_HUMAN;.	L|S	513|854;582;562;702;665;692;582;590;463	.|ENSP00000388743:P854S;ENSP00000374225:P582S;ENSP00000413439:P562S;ENSP00000384116:P702S;ENSP00000384015:P665S;ENSP00000392309:P582S;ENSP00000409909:P590S;ENSP00000389313:P463S	.|ENSP00000297445:P692S	P|P	+|+	2|1	0|0	SUN1|SUN1	875524|875524	1.000000|1.000000	0.71417|0.71417	0.177000|0.177000	0.23020|0.23020	0.344000|0.344000	0.29017|0.29017	7.579000|7.579000	0.82511|0.82511	2.590000|2.590000	0.87494|0.87494	0.655000|0.655000	0.94253|0.94253	CCC|CCC		PASS	0.522	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		82	244	82	244	---	---	---	---
GET4	51608	broad.mit.edu	37	7	925710	925710	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:925710A>T	ENST00000265857.3	+	2	267	c.173A>T	c.(172-174)aAg>aTg	p.K58M	RP11-449P15.2_ENST00000609998.1_RNA|GET4_ENST00000407192.1_Missense_Mutation_p.K5M	NM_015949.2	NP_057033.2	Q7L5D6	GET4_HUMAN	golgi to ER traffic protein 4 homolog (S. cerevisiae)	58					tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)		p.K58M(1)		breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCCCAGAGCAAGCACACGGAG	0.622																																						uc003sjl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)AAG>ATG		hypothetical protein LOC51608							93.0	80.0	84.0					7																	925710		2203	4299	6502	SO:0001583	missense	51608				tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	protein binding	g.chr7:925710A>T	AK023560	CCDS5317.1	7p22.3	2010-08-05	2010-03-24	2010-03-24	ENSG00000239857	ENSG00000239857			21690	protein-coding gene	gene with protein product	"""CGI-20 protein"", ""conserved edge protein"", ""transmembrane domain recognition complex, 35kDa"""	612056	"""chromosome 7 open reading frame 20"""	C7orf20		10810093, 20106980, 20676083	Standard	NM_015949		Approved	CGI-20, H_NH1244M04.5, CEE, TRC35	uc003sjl.1	Q7L5D6	OTTHUMG00000112459	ENST00000265857.3:c.173A>T	7.37:g.925710A>T	ENSP00000265857:p.Lys58Met					GET4_uc003sjj.1_RNA	p.K58M	NM_015949	NP_057033	Q7L5D6	GET4_HUMAN			2	265	+			58					A4D2Q1|B3KNC7|Q9UFC9|Q9Y309	Missense_Mutation	SNP	ENST00000265857.3	37	c.173A>T	CCDS5317.1	.	.	.	.	.	.	.	.	.	.	a	14.73	2.623892	0.46840	.	.	ENSG00000239857	ENST00000265857;ENST00000412734;ENST00000407192;ENST00000441491	T	0.76578	-1.03	5.06	2.66	0.31614	.	0.042839	0.85682	D	0.000000	D	0.87497	0.6192	M	0.87456	2.885	0.58432	D	0.999997	D	0.89917	1.0	D	0.97110	1.0	D	0.86316	0.1689	10	0.87932	D	0	-8.6183	9.2505	0.37551	0.851:0.0:0.149:0.0	.	58	Q7L5D6	GET4_HUMAN	M	58;12;5;70	ENSP00000265857:K58M	ENSP00000265857:K58M	K	+	2	0	GET4	892236	1.000000	0.71417	0.636000	0.29352	0.100000	0.18952	6.026000	0.70873	0.277000	0.22141	-0.383000	0.06682	AAG		PASS	0.622	GET4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000231930.1	NM_015949		14	63	14	63	---	---	---	---
PAPOLB	56903	broad.mit.edu	37	7	4901270	4901270	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:4901270C>T	ENST00000404991.1	-	1	355	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	57					mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CGCTGCAGTTCCTCTTCCTCT	0.488																																						uc003snk.2																			0				ovary(1)	1						c.(172-174)GAA>AAA		poly(A) polymerase beta (testis specific)							33.0	33.0	33.0					7																	4901270		1914	4158	6072	SO:0001583	missense	56903				mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding	g.chr7:4901270C>T	AF218840		7p22.1	2008-02-08			ENSG00000218823	ENSG00000218823	2.7.7.19		15970	protein-coding gene	gene with protein product		607436				11150526	Standard	NM_020144		Approved	PAPT	uc003snk.3	Q9NRJ5	OTTHUMG00000151759	ENST00000404991.1:c.169G>A	7.37:g.4901270C>T	ENSP00000384700:p.Glu57Lys					RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron	p.E58K	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)	1	356	-		Ovarian(82;0.0175)	57					Q75LH1|Q8NE14	Missense_Mutation	SNP	ENST00000404991.1	37	c.172G>A		.	.	.	.	.	.	.	.	.	.	C	17.96	3.515249	0.64634	.	.	ENSG00000218823	ENST00000404991	.	.	.	4.13	3.24	0.37175	.	.	.	.	.	T	0.77003	0.4067	M	0.90369	3.11	0.51012	D	0.999908	P	0.46020	0.871	P	0.53954	0.738	T	0.81529	-0.0891	8	0.62326	D	0.03	.	12.1625	0.54110	0.0:0.8257:0.1743:0.0	.	58	A4D1Z6	.	K	57	.	ENSP00000384700:E57K	E	-	1	0	PAPOLB	4867796	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	4.615000	0.61190	1.310000	0.45006	0.655000	0.94253	GAA		PASS	0.488	PAPOLB-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000323797.1	NM_020144		9	31	9	31	---	---	---	---
COL28A1	340267	broad.mit.edu	37	7	7472140	7472140	+	Silent	SNP	C	C	T	rs115295026	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:7472140C>T	ENST00000399429.3	-	25	2102	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	654					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.P654P(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GTAAACCCATCGGCCCAGGGG	0.512																																						uc003src.1																			2	Substitution - coding silent(2)		cervix(1)|lung(1)	skin(3)	3						c.(1960-1962)CCG>CCA		collagen, type XXVIII precursor							95.0	93.0	94.0					7																	7472140		1935	4130	6065	SO:0001819	synonymous_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7472140C>T	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.1962G>A	7.37:g.7472140C>T						COL28A1_uc011jxe.1_Silent_p.P337P|COL28A1_uc003srd.2_Silent_p.P209P|COL28A1_uc003sre.1_Silent_p.P75P	p.P654P	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	25	2079	-		Ovarian(82;0.0789)	654					A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Silent	SNP	ENST00000399429.3	37	c.1962G>A	CCDS43553.1																																																																																				PASS	0.512	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	NM_001037763		29	97	29	97	---	---	---	---
MEOX2	4223	broad.mit.edu	37	7	15725582	15725582	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:15725582T>C	ENST00000262041.5	-	1	855	c.446A>G	c.(445-447)tAc>tGc	p.Y149C	AC005550.4_ENST00000442176.1_lincRNA	NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	149					angiogenesis (GO:0001525)|blood circulation (GO:0008015)|limb development (GO:0060173)|multicellular organismal development (GO:0007275)|neuron death (GO:0070997)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle tissue development (GO:0007519)|somite specification (GO:0001757)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding (GO:0043565)	p.Y149C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		CTGGCGGCCGTAGTCCCCCGG	0.706																																					Esophageal Squamous(140;197 1769 16409 18257 29929)	uc003stc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(445-447)TAC>TGC		mesenchyme homeobox 2							36.0	43.0	41.0					7																	15725582		2188	4271	6459	SO:0001583	missense	4223				blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:15725582T>C		CCDS34605.1	7p22.1-p21.3	2014-07-15	2005-12-22		ENSG00000106511	ENSG00000106511		"""Homeoboxes / ANTP class : HOXL subclass"""	7014	protein-coding gene	gene with protein product	"""growth arrest-specific homeobox"""	600535	"""mesenchyme homeo box 2 (growth arrest-specific homeo box)"", ""mesenchyme homeobox 2 (growth arrest-specific homeo box)"""	GAX		7713505	Standard	NM_005924		Approved	MOX2	uc003stc.3	P50222	OTTHUMG00000152390	ENST00000262041.5:c.446A>G	7.37:g.15725582T>C	ENSP00000262041:p.Tyr149Cys					MEOX2_uc011jxw.1_Missense_Mutation_p.Y149C	p.Y149C	NM_005924	NP_005915	P50222	MEOX2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)	1	727	-			149					B2R8I7|O75263|Q9UPL6	Missense_Mutation	SNP	ENST00000262041.5	37	c.446A>G	CCDS34605.1	.	.	.	.	.	.	.	.	.	.	T	18.78	3.696181	0.68386	.	.	ENSG00000106511	ENST00000262041	D	0.89746	-2.56	5.43	5.43	0.79202	.	0.196696	0.44688	D	0.000440	D	0.87997	0.6319	L	0.41824	1.3	0.54753	D	0.999986	D	0.63046	0.992	P	0.49561	0.615	D	0.88279	0.2935	10	0.46703	T	0.11	-21.7896	15.4821	0.75537	0.0:0.0:0.0:1.0	.	149	P50222	MEOX2_HUMAN	C	149	ENSP00000262041:Y149C	ENSP00000262041:Y149C	Y	-	2	0	MEOX2	15692107	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.391000	0.52530	2.050000	0.60909	0.533000	0.62120	TAC		PASS	0.706	MEOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326058.2	NM_005924		36	58	36	58	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21778329	21778329	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:21778329G>C	ENST00000409508.3	+	47	7687	c.7656G>C	c.(7654-7656)gaG>gaC	p.E2552D	DNAH11_ENST00000328843.6_Missense_Mutation_p.E2559D	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2559	AAA 3. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E2559D(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAATTCTTGAGAAACCCCTAG	0.333									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7675-7677)GAG>GAC		dynein, axonemal, heavy chain 11							39.0	37.0	37.0					7																	21778329		1836	4086	5922	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21778329G>C	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7656G>C	7.37:g.21778329G>C	ENSP00000475939:p.Glu2552Asp						p.E2559D	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			48	7708	+			2559			AAA 3 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7677G>C		.	.	.	.	.	.	.	.	.	.	G	14.05	2.419860	0.42918	.	.	ENSG00000105877	ENST00000328843	T	0.40476	1.03	5.41	4.52	0.55395	ATPase, AAA+ type, core (1);	0.103797	0.64402	D	0.000004	T	0.61602	0.2360	.	.	.	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	T	0.62553	-0.6830	9	0.45353	T	0.12	.	10.8975	0.47031	0.1591:0.0:0.8409:0.0	.	2559	Q96DT5	DYH11_HUMAN	D	2559	ENSP00000330671:E2559D	ENSP00000330671:E2559D	E	+	3	2	DNAH11	21744854	1.000000	0.71417	1.000000	0.80357	0.091000	0.18340	3.564000	0.53791	1.383000	0.46405	0.655000	0.94253	GAG		PASS	0.333	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		5	3	5	3	---	---	---	---
MPP6	51678	broad.mit.edu	37	7	24705258	24705258	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:24705258C>A	ENST00000222644.5	+	7	1085	c.835C>A	c.(835-837)Ctg>Atg	p.L279M	MPP6_ENST00000396475.2_Missense_Mutation_p.L279M|MPP6_ENST00000409761.1_Missense_Mutation_p.L167M			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.L279M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AAGCCAGTTCCTGGAAGAGAA	0.428																																						uc003swx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(835-837)CTG>ATG		membrane protein, palmitoylated 6							119.0	114.0	116.0					7																	24705258		2203	4300	6503	SO:0001583	missense	51678				protein complex assembly		protein binding	g.chr7:24705258C>A	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.835C>A	7.37:g.24705258C>A	ENSP00000222644:p.Leu279Met					MPP6_uc003swy.2_Missense_Mutation_p.L279M|MPP6_uc010kur.2_5'Flank	p.L279M	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN			8	1134	+			279			SH3.		B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	37	c.835C>A	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231499	0.58777	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475;ENST00000430180	T;T;T;T	0.10573	2.86;2.86;2.86;2.86	5.16	5.16	0.70880	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.42548	D	0.000695	T	0.39358	0.1075	M	0.92604	3.325	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.44190	-0.9344	10	0.87932	D	0	.	9.4237	0.38567	0.0:0.8417:0.0:0.1583	.	279	Q9NZW5	MPP6_HUMAN	M	279;167;279;279	ENSP00000222644:L279M;ENSP00000386262:L167M;ENSP00000379737:L279M;ENSP00000391020:L279M	ENSP00000222644:L279M	L	+	1	2	MPP6	24671783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.456000	0.35201	2.392000	0.81423	0.591000	0.81541	CTG		PASS	0.428	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			4	103	4	103	---	---	---	---
WIPF3	644150	broad.mit.edu	37	7	29915547	29915547	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:29915547G>T	ENST00000409290.1	+	2	192	c.192G>T	c.(190-192)caG>caT	p.Q64H	WIPF3_ENST00000409123.1_Missense_Mutation_p.Q64H|WIPF3_ENST00000242140.5_Missense_Mutation_p.Q64H	NM_001080529.2	NP_001073998.2	A6NGB9	WIPF3_HUMAN	WAS/WASL interacting protein family, member 3	64					cell differentiation (GO:0030154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)		p.Q64H(1)		breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						AAGTCACGCAGATCAACGACC	0.602																																						uc003taj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(190-192)CAG>CAT		WAS/WASL interacting protein family, member 3							47.0	53.0	51.0					7																	29915547		2105	4237	6342	SO:0001583	missense	644150							g.chr7:29915547G>T	AK094250	CCDS56472.1	7p15.1	2006-10-12			ENSG00000122574	ENSG00000122574			22004	protein-coding gene	gene with protein product		612432					Standard	NM_001080529		Approved	CR16, FLJ36931	uc022aaz.1	A6NGB9	OTTHUMG00000152761	ENST00000409290.1:c.192G>T	7.37:g.29915547G>T	ENSP00000386878:p.Gln64His						p.Q64H	NM_001080529	NP_001073998	A6NGB9	WIPF3_HUMAN			2	192	+			64					B8ZZV2	Missense_Mutation	SNP	ENST00000409290.1	37	c.192G>T	CCDS56472.1	.	.	.	.	.	.	.	.	.	.	G	14.81	2.645447	0.47258	.	.	ENSG00000122574	ENST00000409123;ENST00000409290;ENST00000242140	T;T;T	0.48522	0.81;0.81;0.81	5.22	4.34	0.51931	.	0.000000	0.64402	D	0.000010	T	0.59972	0.2233	L	0.54323	1.7	0.34427	D	0.698136	D	0.69078	0.997	D	0.85130	0.997	T	0.68462	-0.5402	10	0.40728	T	0.16	.	9.5685	0.39414	0.0966:0.0:0.9034:0.0	.	64	A6NGB9	WIPF3_HUMAN	H	64	ENSP00000386790:Q64H;ENSP00000386878:Q64H;ENSP00000242140:Q64H	ENSP00000242140:Q64H	Q	+	3	2	WIPF3	29882072	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	3.223000	0.51231	1.193000	0.43086	0.643000	0.83706	CAG		PASS	0.602	WIPF3-002	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327705.1			25	40	25	40	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31123863	31123863	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:31123863C>G	ENST00000304166.4	+	7	725	c.436C>G	c.(436-438)Cag>Gag	p.Q146E	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.Q146E|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.Q125E|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.Q146E	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	146					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.Q146E(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GACTGGGGACCAGGTGAGTGT	0.552																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(436-438)CAG>GAG		adenylate cyclase activating polypeptide 1							142.0	134.0	136.0					7																	31123863		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31123863C>G		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.436C>G	7.37:g.31123863C>G	ENSP00000306620:p.Gln146Glu					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.Q125E|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.Q146E|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.Q146E|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.Q146E|ADCYAP1R1_uc003tcf.1_5'Flank	p.Q146E	NM_001118	NP_001109	P41586	PACR_HUMAN			7	659	+			146			Extracellular (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.436C>G	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229078	0.39399	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.36878	1.23;1.25;1.24;1.24	5.51	5.51	0.81932	.	0.227107	0.39020	N	0.001488	T	0.22898	0.0553	N	0.13235	0.315	0.44899	D	0.997911	B;B;B;B;B	0.32051	0.146;0.354;0.073;0.243;0.243	B;B;B;B;B	0.30716	0.119;0.119;0.046;0.09;0.119	T	0.07424	-1.0773	10	0.13470	T	0.59	.	16.9145	0.86148	0.0:1.0:0.0:0.0	.	146;146;146;125;146	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	E	146;125;146;146	ENSP00000306620:Q146E;ENSP00000387335:Q125E;ENSP00000379514:Q146E;ENSP00000386395:Q146E	ENSP00000306620:Q146E	Q	+	1	0	ADCYAP1R1	31090388	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.108000	0.71522	2.568000	0.86640	0.557000	0.71058	CAG		PASS	0.552	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		10	45	10	45	---	---	---	---
ADCYAP1R1	117	broad.mit.edu	37	7	31124950	31124950	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:31124950A>G	ENST00000304166.4	+	9	851	c.562A>G	c.(562-564)Atc>Gtc	p.I188V	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.I188V|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.I167V|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.I188V	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	188					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)	p.I188V(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						ACGCAACTTCATCCACATGAA	0.532																																					Ovarian(44;225 1186 2158 11092)	uc003tca.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(562-564)ATC>GTC		adenylate cyclase activating polypeptide 1							202.0	157.0	172.0					7																	31124950		2203	4300	6503	SO:0001583	missense	117				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity	g.chr7:31124950A>G		CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	ENST00000304166.4:c.562A>G	7.37:g.31124950A>G	ENSP00000306620:p.Ile188Val					ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.I167V|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.I188V|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.I188V|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.I188V|ADCYAP1R1_uc003tcf.1_5'Flank	p.I188V	NM_001118	NP_001109	P41586	PACR_HUMAN			9	785	+			188			Helical; Name=2; (Potential).		A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Missense_Mutation	SNP	ENST00000304166.4	37	c.562A>G	CCDS5433.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.654354	0.88056	.	.	ENSG00000078549	ENST00000304166;ENST00000409363;ENST00000396211;ENST00000409489	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.7	5.7	0.88788	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.78130	0.4235	M	0.84846	2.72	0.80722	D	1	P;P;D;D;P	0.89917	0.938;0.938;1.0;0.972;0.846	D;P;D;P;P	0.91635	0.921;0.823;0.999;0.679;0.679	T	0.81780	-0.0776	10	0.72032	D	0.01	.	13.9286	0.63978	1.0:0.0:0.0:0.0	.	188;188;188;167;188	B7ZLA7;Q17S10;E9PFU5;B8ZZK3;P41586	.;.;.;.;PACR_HUMAN	V	188;167;188;188	ENSP00000306620:I188V;ENSP00000387335:I167V;ENSP00000379514:I188V;ENSP00000386395:I188V	ENSP00000306620:I188V	I	+	1	0	ADCYAP1R1	31091475	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.317000	0.96327	2.172000	0.68678	0.533000	0.62120	ATC		PASS	0.532	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215041.3	NM_001118		56	103	56	103	---	---	---	---
PDE1C	5137	broad.mit.edu	37	7	32209413	32209413	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:32209413C>A	ENST00000396193.1	-	3	885	c.292G>T	c.(292-294)Gtg>Ttg	p.V98L		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.V98L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	GATGTCTTCACCAAGACTTCT	0.473																																						uc003tco.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|central_nervous_system(1)	4						c.(292-294)GTG>TTG		phosphodiesterase 1C							92.0	81.0	84.0					7																	32209413		876	1991	2867	SO:0001583	missense	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:32209413C>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396193.1:c.292G>T	7.37:g.32209413C>A	ENSP00000379496:p.Val98Leu						p.V98L	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		3	886	-			Error:Variant_position_missing_in_Q14123_after_alignment					B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	ENST00000396193.1	37	c.292G>T	CCDS55100.1	.	.	.	.	.	.	.	.	.	.	C	14.24	2.475884	0.44044	.	.	ENSG00000154678	ENST00000396193	T	0.72051	-0.62	5.65	4.77	0.60923	.	4.736140	0.00424	N	0.000060	T	0.57975	0.2090	N	0.19112	0.55	0.80722	D	1	P	0.38535	0.635	B	0.30855	0.121	T	0.37291	-0.9712	10	0.28530	T	0.3	.	11.2178	0.48835	0.1438:0.7179:0.1383:0.0	.	98	E9PE92	.	L	98	ENSP00000379496:V98L	ENSP00000379496:V98L	V	-	1	0	PDE1C	32175938	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	4.771000	0.62318	1.374000	0.46228	0.655000	0.94253	GTG		PASS	0.473	PDE1C-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215075.1			5	54	5	54	---	---	---	---
TBX20	57057	broad.mit.edu	37	7	35244188	35244188	+	Silent	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:35244188A>G	ENST00000408931.3	-	7	1423	c.897T>C	c.(895-897)agT>agC	p.S299S		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	299					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.S299S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GGCTCTCCACACTTTCCCTAG	0.448																																						uc011kas.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(895-897)AGT>AGC		T-box transcription factor TBX20							59.0	56.0	57.0					7																	35244188		1897	4120	6017	SO:0001819	synonymous_variant	57057					nucleus	DNA binding	g.chr7:35244188A>G	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.897T>C	7.37:g.35244188A>G							p.S299S	NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN			7	908	-			299					A4D1Y6|Q000T4|Q0IJ70|Q0VAS1|Q9Y2N5	Silent	SNP	ENST00000408931.3	37	c.897T>C	CCDS43568.1																																																																																				PASS	0.448	TBX20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216870.2	NM_020417		13	22	13	22	---	---	---	---
PGAM2	5224	broad.mit.edu	37	7	44104982	44104982	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:44104982C>T	ENST00000297283.3	-	1	204	c.147G>A	c.(145-147)aaG>aaA	p.K49K	AC017116.11_ENST00000445938.1_RNA	NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	49					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to mercury ion (GO:0046689)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|striated muscle contraction (GO:0006941)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	2,3-bisphosphoglycerate-dependent phosphoglycerate mutase activity (GO:0046538)|bisphosphoglycerate 2-phosphatase activity (GO:0004083)|bisphosphoglycerate mutase activity (GO:0004082)|cofactor binding (GO:0048037)|phosphoglycerate mutase activity (GO:0004619)	p.K49K(1)		large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						CAAACTCCATCTTGGCATCCT	0.607																																						uc003tjs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(145-147)AAG>AAA		phosphoglycerate mutase 2							146.0	111.0	123.0					7																	44104982		2203	4300	6503	SO:0001819	synonymous_variant	5224				gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity	g.chr7:44104982C>T		CCDS34624.1	7p13-p12	2008-11-17			ENSG00000164708	ENSG00000164708	5.4.2.1, 3.1.3.13, 5.4.2.4		8889	protein-coding gene	gene with protein product		612931					Standard	NM_000290		Approved	PGAM-M	uc003tjs.3	P15259	OTTHUMG00000155355	ENST00000297283.3:c.147G>A	7.37:g.44104982C>T							p.K49K	NM_000290	NP_000281	P15259	PGAM2_HUMAN			1	182	-			49						Silent	SNP	ENST00000297283.3	37	c.147G>A	CCDS34624.1																																																																																				PASS	0.607	PGAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339614.1			24	68	24	68	---	---	---	---
PHTF2	57157	broad.mit.edu	37	7	77579098	77579098	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:77579098G>T	ENST00000248550.7	+	16	2139	c.2063G>T	c.(2062-2064)gGa>gTa	p.G688V	PHTF2_ENST00000422959.2_Missense_Mutation_p.G654V|PHTF2_ENST00000275575.7_Intron|PHTF2_ENST00000416283.2_Missense_Mutation_p.G654V|PHTF2_ENST00000307305.8_Missense_Mutation_p.G650V			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	688					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G688V(1)|p.G654V(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTTACCCTTGGATCAGAAACA	0.333																																						uc003ugs.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2062-2064)GGA>GTA		putative homeodomain transcription factor 2							97.0	87.0	90.0					7																	77579098		1843	4078	5921	SO:0001583	missense	57157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding	g.chr7:77579098G>T	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.2063G>T	7.37:g.77579098G>T	ENSP00000248550:p.Gly688Val					PHTF2_uc003ugq.3_Missense_Mutation_p.G650V|PHTF2_uc010ldv.2_Intron|PHTF2_uc003ugt.3_Missense_Mutation_p.G654V|PHTF2_uc003ugu.3_Missense_Mutation_p.G650V	p.G688V	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN			16	2189	+			688					A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	ENST00000248550.7	37	c.2063G>T		.	.	.	.	.	.	.	.	.	.	G	28.2	4.895444	0.91962	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000416283;ENST00000248550	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.79673	0.4486	M	0.70595	2.14	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	T	0.81333	-0.0980	9	0.87932	D	0	-18.6908	19.3637	0.94453	0.0:0.0:1.0:0.0	.	654;688;650	Q8N3S3-2;Q8N3S3;Q8N3S3-3	.;PHTF2_HUMAN;.	V	654;654;650;654;688	.	ENSP00000248550:G688V	G	+	2	0	PHTF2	77417034	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.648000	0.89879	0.655000	0.94253	GGA		PASS	0.333	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432		7	19	7	19	---	---	---	---
PCLO	27445	broad.mit.edu	37	7	82595319	82595319	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:82595319T>G	ENST00000333891.9	-	4	4122	c.3785A>C	c.(3784-3786)cAt>cCt	p.H1262P	PCLO_ENST00000423517.2_Missense_Mutation_p.H1262P	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.H1262P(2)|p.H1201P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGTAAGTCATGTTTCTGTTC	0.423																																						uc003uhx.2																			3	Substitution - Missense(3)		lung(3)	ovary(7)	7						c.(3784-3786)CAT>CCT		piccolo isoform 1							235.0	233.0	233.0					7																	82595319		1878	4107	5985	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595319T>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3785A>C	7.37:g.82595319T>G	ENSP00000334319:p.His1262Pro					PCLO_uc003uhv.2_Missense_Mutation_p.H1262P	p.H1262P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			4	4074	-			1201						Missense_Mutation	SNP	ENST00000333891.9	37	c.3785A>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.395283	0.25205	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.15603	2.41;2.41	5.19	-3.82	0.04281	.	.	.	.	.	T	0.09642	0.0237	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34004	-0.9846	9	0.87932	D	0	.	7.2767	0.26288	0.0:0.3143:0.1096:0.5761	.	1262;1262	Q9Y6V0-5;Q9Y6V0-6	.;.	P	1201;1262;1262	ENSP00000334319:H1262P;ENSP00000388393:H1262P	ENSP00000334319:H1262P	H	-	2	0	PCLO	82433255	0.001000	0.12720	0.000000	0.03702	0.216000	0.24613	0.131000	0.15870	-0.742000	0.04790	0.533000	0.62120	CAT		PASS	0.423	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		8	282	8	282	---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84644417	84644417	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:84644417C>T	ENST00000284136.6	-	14	1704	c.1661G>A	c.(1660-1662)tGg>tAg	p.W554*	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	554	PSI.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.W554*(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATTTCCATCCCAGGCACAGTA	0.473																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|large_intestine(2)	5						c.(1660-1662)TGG>TAG		semaphorin 3D precursor							125.0	113.0	117.0					7																	84644417		2203	4300	6503	SO:0001587	stop_gained	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84644417C>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1661G>A	7.37:g.84644417C>T	ENSP00000284136:p.Trp554*					SEMA3D_uc010led.2_Nonsense_Mutation_p.W554*|SEMA3D_uc003uib.2_Nonsense_Mutation_p.W193*	p.W554*	NM_152754	NP_689967	O95025	SEM3D_HUMAN			14	1701	-			554			PSI.		A6NK46|Q6UW77|Q8NCQ1	Nonsense_Mutation	SNP	ENST00000284136.6	37	c.1661G>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	C	39	7.403718	0.98262	.	.	ENSG00000153993	ENST00000284136	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.9361	0.97143	0.0:1.0:0.0:0.0	.	.	.	.	X	554	.	ENSP00000284136:W554X	W	-	2	0	SEMA3D	84482353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.720000	0.93068	0.561000	0.74099	TGG		PASS	0.473	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		42	101	42	101	---	---	---	---
SEMA3D	223117	broad.mit.edu	37	7	84702362	84702362	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:84702362G>A	ENST00000284136.6	-	4	454	c.411C>T	c.(409-411)ccC>ccT	p.P137P	SEMA3D_ENST00000444867.1_Silent_p.P137P	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	137	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)	p.P137P(1)		NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TTTTGTTATAGGGCTGAAGTA	0.328																																					Ovarian(63;442 1191 17318 29975 31528)	uc003uic.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(2)	5						c.(409-411)CCC>CCT		semaphorin 3D precursor							112.0	106.0	108.0					7																	84702362		2203	4300	6503	SO:0001819	synonymous_variant	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84702362G>A	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.411C>T	7.37:g.84702362G>A						SEMA3D_uc010led.2_Silent_p.P137P|SEMA3D_uc010lee.1_Silent_p.P137P	p.P137P	NM_152754	NP_689967	O95025	SEM3D_HUMAN			4	451	-			137			Sema.		A6NK46|Q6UW77|Q8NCQ1	Silent	SNP	ENST00000284136.6	37	c.411C>T	CCDS34676.1																																																																																				PASS	0.328	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		32	89	32	89	---	---	---	---
ADAM22	53616	broad.mit.edu	37	7	87774742	87774742	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:87774742G>A	ENST00000265727.7	+	17	1484	c.1405G>A	c.(1405-1407)Gaa>Aaa	p.E469K	ADAM22_ENST00000315984.7_Missense_Mutation_p.E469K|ADAM22_ENST00000398209.3_Missense_Mutation_p.E469K|ADAM22_ENST00000398201.4_Missense_Mutation_p.E469K|ADAM22_ENST00000398204.4_Missense_Mutation_p.E469K			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	469	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.E469K(3)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGTGTCCTTGAAGGAGCAGA	0.353																																						uc003ujn.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)|lung(1)|kidney(1)	8						c.(1405-1407)GAA>AAA		ADAM metallopeptidase domain 22 isoform 1							87.0	77.0	80.0					7																	87774742		1855	4099	5954	SO:0001583	missense	53616				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding	g.chr7:87774742G>A	AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1405G>A	7.37:g.87774742G>A	ENSP00000265727:p.Glu469Lys					ADAM22_uc003ujk.1_Missense_Mutation_p.E469K|ADAM22_uc003ujl.1_Missense_Mutation_p.E469K|ADAM22_uc003ujm.2_Missense_Mutation_p.E469K|ADAM22_uc003ujo.2_Missense_Mutation_p.E469K|ADAM22_uc003ujp.1_Missense_Mutation_p.E521K	p.E469K	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		17	1484	+	Esophageal squamous(14;0.00202)		469			Disintegrin.|Extracellular (Potential).		O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	c.1405G>A	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810571	0.90707	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83	5.83	5.83	0.93111	Blood coagulation inhibitor, Disintegrin (4);	0.000000	0.85682	D	0.000000	T	0.27134	0.0665	L	0.42581	1.335	0.80722	D	1	P;P;P;D	0.67145	0.629;0.575;0.629;0.996	B;B;B;D	0.80764	0.366;0.251;0.366;0.994	T	0.00150	-1.1986	10	0.33141	T	0.24	.	18.9071	0.92467	0.0:0.0:1.0:0.0	.	521;469;469;469	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	K	469;469;469;469;469;436	ENSP00000381262:E469K;ENSP00000381260:E469K;ENSP00000265727:E469K;ENSP00000315900:E469K;ENSP00000381267:E469K;ENSP00000381261:E436K	ENSP00000265727:E469K	E	+	1	0	ADAM22	87612678	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.946000	0.70234	2.755000	0.94549	0.650000	0.86243	GAA		PASS	0.353	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723		40	116	40	116	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92134131	92134131	+	Silent	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:92134131A>G	ENST00000248633.4	-	12	2081	c.1986T>C	c.(1984-1986)gaT>gaC	p.D662D	PEX1_ENST00000438045.1_Silent_p.D340D|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000541751.1_Silent_p.D79D	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	662			Missing (in PBD1A and PBD1B). {ECO:0000269|PubMed:9539740}.		ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)	p.D662D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GGTCAAGGTCATCCAGCAGGA	0.507																																						uc003uly.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1984-1986)GAT>GAC		peroxin1							179.0	165.0	170.0					7																	92134131		2203	4300	6503	SO:0001819	synonymous_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92134131A>G	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1986T>C	7.37:g.92134131A>G						PEX1_uc011khr.1_Silent_p.D454D|PEX1_uc010ley.2_Intron|PEX1_uc011khs.1_Silent_p.D340D|PEX1_uc011kht.1_RNA	p.D662D	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		12	2082	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	662		Missing (in NALD).			A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	c.1986T>C	CCDS5627.1																																																																																				PASS	0.507	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		82	217	82	217	---	---	---	---
CALCR	799	broad.mit.edu	37	7	93065476	93065476	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:93065476A>C	ENST00000394441.1	-	11	1252	c.937T>G	c.(937-939)Ttc>Gtc	p.F313V	CALCR_ENST00000360249.4_Missense_Mutation_p.F329V|CALCR_ENST00000426151.1_Missense_Mutation_p.F313V|CALCR_ENST00000359558.2_Missense_Mutation_p.F347V|CALCR_ENST00000421592.1_Missense_Mutation_p.F329V	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	347					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.F313V(1)|p.F347V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	AAAAAGAAGAAATTGACCTGC	0.423																																						uc003umv.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(1039-1041)TTC>GTC		calcitonin receptor isoform 2 precursor	Salmon Calcitonin(DB00017)						67.0	62.0	64.0					7																	93065476		2203	4300	6503	SO:0001583	missense	799				activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin binding|calcitonin receptor activity|calcitonin receptor activity|protein binding	g.chr7:93065476A>C	L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.937T>G	7.37:g.93065476A>C	ENSP00000377959:p.Phe313Val					CALCR_uc011kia.1_Missense_Mutation_p.F127V|CALCR_uc003ums.1_RNA|CALCR_uc003umt.1_RNA|CALCR_uc003umu.1_Missense_Mutation_p.F313V|CALCR_uc003umw.2_Missense_Mutation_p.F313V	p.F347V	NM_001742	NP_001733	P30988	CALCR_HUMAN	STAD - Stomach adenocarcinoma(171;0.000244)		13	1300	-	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		329			Helical; Name=5; (Potential).		A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Missense_Mutation	SNP	ENST00000394441.1	37	c.1039T>G	CCDS5631.1	.	.	.	.	.	.	.	.	.	.	A	18.87	3.716018	0.68844	.	.	ENSG00000004948	ENST00000359558;ENST00000360249;ENST00000421592;ENST00000394441;ENST00000426151	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	5.12	5.12	0.69794	.	.	.	.	.	T	0.48150	0.1484	M	0.72576	2.205	0.47341	D	0.999395	P;B	0.50943	0.94;0.443	P;P	0.48815	0.591;0.525	T	0.55218	-0.8175	9	0.87932	D	0	.	15.3972	0.74805	1.0:0.0:0.0:0.0	.	347;313	F5H605;A4D1G6	.;.	V	347;329;329;313;313	ENSP00000352561:F347V;ENSP00000353385:F329V;ENSP00000399552:F329V;ENSP00000377959:F313V;ENSP00000389295:F313V	ENSP00000352561:F347V	F	-	1	0	CALCR	92903412	1.000000	0.71417	0.982000	0.44146	0.809000	0.45718	3.286000	0.51724	2.288000	0.76882	0.482000	0.46254	TTC		PASS	0.423	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254661.2	NM_001742		17	36	17	36	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100677255	100677255	+	Missense_Mutation	SNP	C	C	A	rs140905069		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:100677255C>A	ENST00000306151.4	+	3	2622	c.2558C>A	c.(2557-2559)aCc>aAc	p.T853N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	853	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T853N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGAAGGTACCAGCATGCCA	0.488																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(2557-2559)ACC>AAC		mucin 17 precursor							290.0	282.0	285.0					7																	100677255		2203	4298	6501	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677255C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2558C>A	7.37:g.100677255C>A	ENSP00000302716:p.Thr853Asn					MUC17_uc010lho.1_RNA	p.T853N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	2611	+	Lung NSC(181;0.136)|all_lung(186;0.182)		853			Extracellular (Potential).|12.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2558C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	1.465	-0.561354	0.03939	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	1.14	0.205	0.15204	.	.	.	.	.	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	P	0.51933	0.949	B	0.39904	0.313	T	0.51100	-0.8748	9	0.25751	T	0.34	.	5.6516	0.17620	0.0:0.7901:0.0:0.2099	.	853	Q685J3	MUC17_HUMAN	N	853	ENSP00000302716:T853N	ENSP00000302716:T853N	T	+	2	0	MUC17	100463975	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.978000	0.00664	0.068000	0.16574	-1.024000	0.02432	ACC		PASS	0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		123	375	123	375	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100684625	100684625	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:100684625A>T	ENST00000306151.4	+	3	9992	c.9928A>T	c.(9928-9930)Aca>Tca	p.T3310S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3310	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T3310S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGACACCAGCACACCTGTGAC	0.488																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9928-9930)ACA>TCA		mucin 17 precursor							282.0	292.0	289.0					7																	100684625		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684625A>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9928A>T	7.37:g.100684625A>T	ENSP00000302716:p.Thr3310Ser					MUC17_uc010lho.1_RNA	p.T3310S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9981	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3310			Extracellular (Potential).|54.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9928A>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	11.77	1.737019	0.30774	.	.	ENSG00000169876	ENST00000306151	T	0.03301	3.98	1.51	1.51	0.23008	.	.	.	.	.	T	0.04048	0.0113	N	0.04508	-0.205	0.09310	N	1	P	0.46578	0.88	P	0.62184	0.899	T	0.49273	-0.8957	9	0.14252	T	0.57	.	7.0955	0.25307	1.0:0.0:0.0:0.0	.	3310	Q685J3	MUC17_HUMAN	S	3310	ENSP00000302716:T3310S	ENSP00000302716:T3310S	T	+	1	0	MUC17	100471345	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.707000	0.05041	0.948000	0.37687	0.165000	0.16767	ACA		PASS	0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		95	260	95	260	---	---	---	---
MOGAT3	346606	broad.mit.edu	37	7	100842049	100842049	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:100842049C>T	ENST00000223114.4	-	4	517	c.351G>A	c.(349-351)ggG>ggA	p.G117G	MOGAT3_ENST00000440203.2_Silent_p.G117G|MOGAT3_ENST00000379423.3_Silent_p.G117G	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	117					glycerol metabolic process (GO:0006071)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|diacylglycerol O-acyltransferase activity (GO:0004144)	p.G117G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					TACACATGATCCCATGAGGGT	0.612																																						uc003uyc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(349-351)GGG>GGA		monoacylglycerol O-acyltransferase 3							82.0	88.0	86.0					7																	100842049		2203	4300	6503	SO:0001819	synonymous_variant	346606				glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity	g.chr7:100842049C>T	AY229854	CCDS5714.1, CCDS75643.1	7q22	2012-09-06			ENSG00000106384	ENSG00000106384	2.3.1.20, 2.3.1.22		23249	protein-coding gene	gene with protein product		610184				12618427, 14970677	Standard	XM_005250309		Approved	DC7, MGAT3	uc003uyc.3	Q86VF5	OTTHUMG00000023328	ENST00000223114.4:c.351G>A	7.37:g.100842049C>T						MOGAT3_uc010lhr.2_Silent_p.G117G	p.G117G	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN			4	518	-	Lung NSC(181;0.168)|all_lung(186;0.215)		117					Q496A6|Q496A7|Q496A8|Q9UDW7	Silent	SNP	ENST00000223114.4	37	c.351G>A	CCDS5714.1																																																																																				PASS	0.612	MOGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059649.3	NM_178176		46	104	46	104	---	---	---	---
PUS7	54517	broad.mit.edu	37	7	105099694	105099694	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:105099694T>C	ENST00000356362.2	-	15	1984	c.1770A>G	c.(1768-1770)gcA>gcG	p.A590A	PUS7_ENST00000469408.1_Silent_p.A590A	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 (putative)	590					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.A590A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GATCATCATATGCAACGACTT	0.363																																					Colon(138;2387 3051 17860)	uc003vcx.2																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1768-1770)GCA>GCG		pseudouridylate synthase 7 homolog							143.0	121.0	129.0					7																	105099694		2203	4300	6503	SO:0001819	synonymous_variant	54517				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr7:105099694T>C	AK128629	CCDS34725.1	7q22.3	2014-02-14	2014-02-14		ENSG00000091127	ENSG00000091127			26033	protein-coding gene	gene with protein product			"""pseudouridylate synthase 7 homolog (S. cerevisiae)"""			11572484	Standard	NM_019042		Approved	FLJ20485	uc003vcx.3	Q96PZ0	OTTHUMG00000157399	ENST00000356362.2:c.1770A>G	7.37:g.105099694T>C						PUS7_uc010lji.2_Silent_p.A596A|PUS7_uc003vcy.2_Silent_p.A590A|PUS7_uc003vcz.1_Silent_p.A590A	p.A590A	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN			15	1989	-			590					Q75MG4|Q9NX19	Silent	SNP	ENST00000356362.2	37	c.1770A>G	CCDS34725.1																																																																																				PASS	0.363	PUS7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348681.1	NM_019042		27	70	27	70	---	---	---	---
CBLL1	79872	broad.mit.edu	37	7	107398830	107398830	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:107398830A>G	ENST00000440859.3	+	6	1150	c.683A>G	c.(682-684)cAt>cGt	p.H228R	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.H227R	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	228	Pro-rich.				negative regulation of cell adhesion (GO:0007162)|positive regulation of cell migration (GO:0030335)|positive regulation of endocytosis (GO:0045807)|protein ubiquitination (GO:0016567)|single organismal cell-cell adhesion (GO:0016337)	ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H228R(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						GACAAGCACCATATGAGCCAT	0.468																																						uc003veq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|lung(1)	5						c.(682-684)CAT>CGT		Cas-Br-M (murine) ecotropic retroviral							169.0	162.0	164.0					7																	107398830		2203	4300	6503	SO:0001583	missense	79872				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:107398830A>G	AK026762	CCDS5747.1, CCDS64754.1	7q22.3	2013-07-09	2013-07-09		ENSG00000105879	ENSG00000105879		"""RING-type (C3HC4) zinc fingers"""	21225	protein-coding gene	gene with protein product	"""Casitas B-lineage lymphoma-like"""	606872	"""Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1"""			11836526, 11944035	Standard	NM_001284291		Approved	HAKAI, FLJ23109, RNF188	uc003veq.3	Q75N03	OTTHUMG00000154809	ENST00000440859.3:c.683A>G	7.37:g.107398830A>G	ENSP00000401277:p.His228Arg					CBLL1_uc011kme.1_Missense_Mutation_p.H107R|CBLL1_uc011kmf.1_Missense_Mutation_p.H227R	p.H228R	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN			6	1013	+			228			Pro-rich.		B7ZM03|Q8TAJ4|Q9H5S6	Missense_Mutation	SNP	ENST00000440859.3	37	c.683A>G	CCDS5747.1	.	.	.	.	.	.	.	.	.	.	A	12.69	2.015086	0.35511	.	.	ENSG00000105879	ENST00000440859;ENST00000535365;ENST00000222597;ENST00000420796;ENST00000417616	T;T;T	0.29917	1.56;1.55;1.58	5.01	5.01	0.66863	.	0.114632	0.64402	D	0.000017	T	0.45397	0.1340	L	0.48642	1.525	0.58432	D	0.999995	D;D	0.53462	0.96;0.96	D;D	0.64237	0.923;0.923	T	0.20140	-1.0284	10	0.27082	T	0.32	-3.4743	15.0076	0.71524	1.0:0.0:0.0:0.0	.	227;228	B7ZM03;Q75N03	.;HAKAI_HUMAN	R	228;107;227;178;174	ENSP00000401277:H228R;ENSP00000222597:H227R;ENSP00000410615:H178R	ENSP00000222597:H227R	H	+	2	0	CBLL1	107186066	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.321000	0.89997	2.014000	0.59158	0.459000	0.35465	CAT		PASS	0.468	CBLL1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337156.2	NM_024814		63	147	63	147	---	---	---	---
IMMP2L	83943	broad.mit.edu	37	7	110603570	110603570	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:110603570T>C	ENST00000405709.2	-	4	733	c.291A>G	c.(289-291)gaA>gaG	p.E97E	IMMP2L_ENST00000452895.1_Silent_p.E97E|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000437687.1_Silent_p.E97E|IMMP2L_ENST00000415362.1_Silent_p.E97E|IMMP2L_ENST00000331762.3_Silent_p.E97E|IMMP2L_ENST00000447215.1_Silent_p.E97E|IMMP2L_ENST00000450877.1_Silent_p.E79E	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	97					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)	p.E97E(1)		endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CAATATCTCCTTCAAGAGCAA	0.328																																						uc003vfq.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(289-291)GAA>GAG		IMP2 inner mitochondrial membrane protease-like							89.0	85.0	86.0					7																	110603570		2203	4299	6502	SO:0001819	synonymous_variant	83943				protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	g.chr7:110603570T>C	AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.291A>G	7.37:g.110603570T>C						IMMP2L_uc010ljr.1_Silent_p.E97E|IMMP2L_uc003vfr.2_Silent_p.E97E	p.E97E	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)	4	734	-			97					Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	ENST00000405709.2	37	c.291A>G	CCDS5753.1																																																																																				PASS	0.328	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338109.4	NM_032549		29	70	29	70	---	---	---	---
PTPRZ1	5803	broad.mit.edu	37	7	121653494	121653494	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:121653494G>A	ENST00000393386.2	+	12	4805	c.4394G>A	c.(4393-4395)aGt>aAt	p.S1465N	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1465					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S1465N(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CACGAAAACAGTCTTATGGAT	0.378																																						uc003vjy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						c.(4393-4395)AGT>AAT		protein tyrosine phosphatase, receptor-type,							87.0	84.0	85.0					7																	121653494		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121653494G>A	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4394G>A	7.37:g.121653494G>A	ENSP00000377047:p.Ser1465Asn					PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron	p.S1465N	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			12	4789	+			1465			Extracellular (Potential).		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.4394G>A	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	G	0.327	-0.958556	0.02267	.	.	ENSG00000106278	ENST00000393386	T	0.37752	1.18	5.61	-2.56	0.06268	.	0.682058	0.14715	N	0.302704	T	0.24160	0.0585	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15549	-1.0433	10	0.36615	T	0.2	.	9.8643	0.41134	0.4419:0.0927:0.4654:0.0	.	1465	P23471	PTPRZ_HUMAN	N	1465	ENSP00000377047:S1465N	ENSP00000377047:S1465N	S	+	2	0	PTPRZ1	121440730	0.049000	0.20398	0.000000	0.03702	0.001000	0.01503	1.242000	0.32755	-0.594000	0.05836	-1.761000	0.00669	AGT		PASS	0.378	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		17	107	17	107	---	---	---	---
IQUB	154865	broad.mit.edu	37	7	123119903	123119903	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:123119903T>C	ENST00000466202.1	-	8	1932	c.1356A>G	c.(1354-1356)agA>agG	p.R452R	IQUB_ENST00000434450.1_Silent_p.R452R|IQUB_ENST00000324698.6_Silent_p.R452R	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	452					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)		p.R452R(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AAGCAATGTATCTATGTCTCC	0.358																																						uc003vkn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1354-1356)AGA>AGG		IQ motif and ubiquitin domain containing							99.0	95.0	97.0					7																	123119903		2202	4299	6501	SO:0001819	synonymous_variant	154865							g.chr7:123119903T>C	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.1356A>G	7.37:g.123119903T>C						IQUB_uc003vko.2_Silent_p.R452R|IQUB_uc010lkt.2_Intron|IQUB_uc003vkp.1_Silent_p.R452R	p.R452R	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN			8	1933	-			452					A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Silent	SNP	ENST00000466202.1	37	c.1356A>G	CCDS5787.1																																																																																				PASS	0.358	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		40	88	40	88	---	---	---	---
GRM8	2918	broad.mit.edu	37	7	126173774	126173774	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:126173774T>A	ENST00000339582.2	-	9	2470	c.1662A>T	c.(1660-1662)gaA>gaT	p.E554D	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E554D|GRM8_ENST00000444921.2_Missense_Mutation_p.E554D			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	554					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)	p.E554D(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GAGGGCAAAGTTCACAGGACA	0.552										HNSCC(24;0.065)																												uc003vlr.2																			1	Substitution - Missense(1)		lung(1)	lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1660-1662)GAA>GAT		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						150.0	134.0	139.0					7																	126173774		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173774T>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1662A>T	7.37:g.126173774T>A	ENSP00000344173:p.Glu554Asp	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.E554D|GRM8_uc010lkz.1_RNA	p.E554D	NM_000845	NP_000836	O00222	GRM8_HUMAN			8	1973	-		Prostate(267;0.186)	554			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1662A>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	T	12.91	2.079303	0.36662	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89746	-2.56;-2.56;-2.56	5.8	0.98	0.19750	GPCR, family 3, conserved site (1);GPCR, family 3, nine cysteines domain (1);	0.000000	0.85682	D	0.000000	T	0.80363	0.4609	L	0.37850	1.14	0.80722	D	1	P;B	0.40875	0.731;0.131	B;B	0.38264	0.269;0.063	T	0.72686	-0.4218	10	0.23891	T	0.37	.	9.3483	0.38122	0.0:0.2728:0.0:0.7272	.	554;554	O00222-2;O00222	.;GRM8_HUMAN	D	554	ENSP00000344173:E554D;ENSP00000409790:E554D;ENSP00000351142:E554D	ENSP00000344173:E554D	E	-	3	2	GRM8	125961010	0.556000	0.26538	1.000000	0.80357	0.998000	0.95712	-0.240000	0.08952	0.478000	0.27488	0.523000	0.50628	GAA		PASS	0.552	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			40	100	40	100	---	---	---	---
CHRM2	1129	broad.mit.edu	37	7	136587972	136587972	+	Intron	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:136587972C>G	ENST00000445907.2	+	2	482				hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000608269.1_RNA|CHRM2_ENST00000402486.3_Intron|CHRM2_ENST00000397608.3_Intron|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000320658.5_Intron|MIR490_ENST00000384865.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000401861.1_Intron|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Intron	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCAGGTGGGTCAAGTTTAGAG	0.493																																						hsa-mir-490|MI0003125																			0					0															156.0	142.0	146.0					7																	136587972		1568	3582	5150	SO:0001627	intron_variant	574443							g.chr7:136587972C>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.-47+33807C>G	7.37:g.136587972C>G						CHRM2_uc003vtf.1_Intron|CHRM2_uc003vtg.1_Intron|CHRM2_uc003vtj.1_Intron|CHRM2_uc003vtk.1_Intron|CHRM2_uc003vtl.1_Intron|CHRM2_uc003vtm.1_Intron|CHRM2_uc003vti.1_Intron|CHRM2_uc003vto.1_Intron|CHRM2_uc003vtn.1_Intron|uc003vtp.1_Intron										+								Q4VBK6|Q9P1X9	RNA	SNP	ENST00000445907.2	37	c.59C>G	CCDS5843.1																																																																																				PASS	0.493	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1			48	116	48	116	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141740548	141740548	+	Silent	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:141740548A>G	ENST00000549489.2	+	21	2495	c.2400A>G	c.(2398-2400)caA>caG	p.Q800Q	MGAM_ENST00000475668.2_Silent_p.Q800Q	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	800	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.Q800Q(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAGGAAGCAAAAAGTCGAGA	0.478																																						uc003vwy.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(2398-2400)CAA>CAG		maltase-glucoamylase	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						106.0	108.0	108.0					7																	141740548		1988	4173	6161	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141740548A>G	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.2400A>G	7.37:g.141740548A>G							p.Q800Q	NM_004668	NP_004659	O43451	MGA_HUMAN			21	2454	+	Melanoma(164;0.0272)		800			Lumenal (Potential).|Maltase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.2400A>G	CCDS47727.1																																																																																				PASS	0.478	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			12	33	12	33	---	---	---	---
OR6V1	346517	broad.mit.edu	37	7	142749667	142749667	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:142749667C>A	ENST00000418316.1	+	1	251	c.230C>A	c.(229-231)cCc>cAc	p.P77H		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P77H(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					ACTGCAGTGCCCAGGATGCTC	0.507																																						uc011ksv.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(229-231)CCC>CAC		olfactory receptor, family 6, subfamily V,							224.0	220.0	221.0					7																	142749667		2054	4214	6268	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749667C>A		CCDS47728.1	7q34	2014-05-06			ENSG00000225781	ENSG00000225781		"""GPCR / Class A : Olfactory receptors"""	15090	protein-coding gene	gene with protein product						12732197	Standard	NM_001001667		Approved	GPR138	uc011ksv.2	Q8N148	OTTHUMG00000158385	ENST00000418316.1:c.230C>A	7.37:g.142749667C>A	ENSP00000396085:p.Pro77His						p.P77H	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	230	+	Melanoma(164;0.059)		77			Extracellular (Potential).		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.230C>A	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.310842	0.60414	.	.	ENSG00000225781	ENST00000418316	T	0.25749	1.78	4.25	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.46756	0.1409	H	0.96048	3.76	0.30506	N	0.769902	D	0.54772	0.968	P	0.47251	0.542	T	0.58842	-0.7565	9	0.87932	D	0	.	8.4719	0.32991	0.0:0.8041:0.0:0.1959	.	77	Q8N148	OR6V1_HUMAN	H	77	ENSP00000396085:P77H	ENSP00000396085:P77H	P	+	2	0	OR6V1	142459789	1.000000	0.71417	0.573000	0.28510	0.995000	0.86356	5.367000	0.66127	0.429000	0.26202	0.561000	0.74099	CCC		PASS	0.507	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			82	200	82	200	---	---	---	---
OR2F2	135948	broad.mit.edu	37	7	143632563	143632563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:143632563C>T	ENST00000408955.2	+	1	305	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q80*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CGTAGTCCCCCAGCTGCTGGC	0.512																																						uc011ktv.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(1)	4						c.(238-240)CAG>TAG		olfactory receptor, family 2, subfamily F,							217.0	212.0	213.0					7																	143632563		2203	4300	6503	SO:0001587	stop_gained	135948				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143632563C>T		CCDS43666.1	7q33-q35	2012-08-09			ENSG00000221910	ENSG00000221910		"""GPCR / Class A : Olfactory receptors"""	8247	protein-coding gene	gene with protein product							Standard	NM_001004685		Approved	OR7-1	uc011ktv.2	O95006	OTTHUMG00000157768	ENST00000408955.2:c.238C>T	7.37:g.143632563C>T	ENSP00000386222:p.Gln80*						p.Q80*	NM_001004685	NP_001004685	O95006	OR2F2_HUMAN			1	238	+	Melanoma(164;0.0903)		80			Extracellular (Potential).		A4D2G0|Q6IFP8	Nonsense_Mutation	SNP	ENST00000408955.2	37	c.238C>T	CCDS43666.1	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315943	0.23908	.	.	ENSG00000221910	ENST00000408955	.	.	.	3.66	2.77	0.32553	.	0.000000	0.48767	D	0.000162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-19.1176	4.4572	0.11649	0.2203:0.6611:0.0:0.1186	.	.	.	.	X	80	.	ENSP00000386222:Q80X	Q	+	1	0	OR2F2	143263496	0.000000	0.05858	0.948000	0.38648	0.054000	0.15201	0.334000	0.19787	0.882000	0.36016	0.491000	0.48974	CAG		PASS	0.512	OR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349570.1			106	266	106	266	---	---	---	---
ZNF398	57541	broad.mit.edu	37	7	148851301	148851301	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:148851301G>C	ENST00000475153.1	+	2	556	c.289G>C	c.(289-291)Gcc>Ccc	p.A97P	ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.A102P			Q8TD17	ZN398_HUMAN	zinc finger protein 398	97					positive regulation of transcription, DNA-templated (GO:0045893)|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.A97P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GGGCAAGTGGGCCGTGCTGGG	0.592																																						uc003wfl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(289-291)GCC>CCC		zinc finger 398 isoform a							63.0	65.0	64.0					7																	148851301		2203	4300	6503	SO:0001583	missense	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851301G>C	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.289G>C	7.37:g.148851301G>C	ENSP00000420418:p.Ala97Pro					ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.A102P	p.A97P	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	564	+	Melanoma(164;0.15)		97					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.289G>C	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306887	0.81247	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.77750	-1.12;-1.12	5.18	5.18	0.71444	.	0.000000	0.48767	D	0.000176	D	0.84687	0.5527	L	0.56199	1.76	0.80722	D	1	P;D	0.76494	0.834;0.999	P;D	0.75020	0.787;0.985	D	0.85807	0.1377	10	0.66056	D	0.02	-10.4724	14.2249	0.65853	0.0:0.0:1.0:0.0	.	102;97	B4DXA9;Q8TD17	.;ZN398_HUMAN	P	97;102	ENSP00000420418:A97P;ENSP00000439340:A102P	ENSP00000420418:A97P	A	+	1	0	ZNF398	148482234	0.999000	0.42202	0.997000	0.53966	0.979000	0.70002	1.303000	0.33470	2.420000	0.82092	0.655000	0.94253	GCC		PASS	0.592	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			31	103	31	103	---	---	---	---
ZNF398	57541	broad.mit.edu	37	7	148851390	148851390	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:148851390G>T	ENST00000475153.1	+	2	645	c.378G>T	c.(376-378)tgG>tgT	p.W126C	ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.W131C			Q8TD17	ZN398_HUMAN	zinc finger protein 398	126					positive regulation of transcription, DNA-templated (GO:0045893)|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.W126C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GGAACTTCTGGATCCTGCGGC	0.522																																						uc003wfl.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(376-378)TGG>TGT		zinc finger 398 isoform a							51.0	54.0	53.0					7																	148851390		2203	4300	6503	SO:0001583	missense	57541				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148851390G>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.378G>T	7.37:g.148851390G>T	ENSP00000420418:p.Trp126Cys					ZNF398_uc011kul.1_5'UTR|ZNF398_uc011kum.1_Missense_Mutation_p.W131C	p.W126C	NM_170686	NP_733787	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		2	653	+	Melanoma(164;0.15)		126					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.378G>T	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473120	0.63737	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.09911	2.93;2.95	5.18	5.18	0.71444	.	0.000000	0.45867	D	0.000337	T	0.27313	0.0670	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.994;0.997	T	0.00397	-1.1765	10	0.59425	D	0.04	-15.0151	14.2249	0.65853	0.0:0.0:1.0:0.0	.	131;126	B4DXA9;Q8TD17	.;ZN398_HUMAN	C	126;131	ENSP00000420418:W126C;ENSP00000439340:W131C	ENSP00000420418:W126C	W	+	3	0	ZNF398	148482323	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	3.086000	0.50159	2.420000	0.82092	0.655000	0.94253	TGG		PASS	0.522	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			40	67	40	67	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149514991	149514991	+	RNA	SNP	C	C	G	rs566986698		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:149514991C>G	ENST00000378016.2	+	0	11381							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCCCCAGCTCGTGTGCACAC	0.662																																						uc010lpk.2																			0					0						c.(11380-11382)TCG>TGG		SCO-spondin precursor							39.0	43.0	42.0					7																	149514991		1987	4153	6140			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149514991C>G	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149514991C>G							p.S3794W	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		81	11381	+	Melanoma(164;0.165)|Ovarian(565;0.177)		3794					Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.11381C>G																																																																																					PASS	0.662	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				8	34	8	34	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151919670	151919670	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr7:151919670G>A	ENST00000262189.6	-	21	3639	c.3421C>T	c.(3421-3423)Cct>Tct	p.P1141S	KMT2C_ENST00000355193.2_Missense_Mutation_p.P1141S	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1141					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.P1141S(2)									TTAGACGCAGGCATATAGGGT	0.398																																						uc003wla.2										N							medulloblastoma		2	Substitution - Missense(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(3421-3423)CCT>TCT		myeloid/lymphoid or mixed-lineage leukemia 3							49.0	39.0	42.0					7																	151919670		2202	4299	6501	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151919670G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3421C>T	7.37:g.151919670G>A	ENSP00000262189:p.Pro1141Ser					MLL3_uc003wkz.2_Missense_Mutation_p.P202S	p.P1141S	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	21	3640	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	1141					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.3421C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713743	0.30413	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	T;T	0.62498	0.02;0.02	5.73	5.73	0.89815	Zinc finger, FYVE/PHD-type (1);	0.146146	0.31290	N	0.007906	T	0.73999	0.3659	M	0.76838	2.35	0.80722	D	1	D;B	0.57899	0.981;0.42	P;B	0.52109	0.69;0.099	T	0.76030	-0.3108	10	0.51188	T	0.08	.	18.0799	0.89439	0.0:0.0:1.0:0.0	.	1141;202	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	S	1141	ENSP00000262189:P1141S;ENSP00000347325:P1141S	ENSP00000262189:P1141S	P	-	1	0	MLL3	151550603	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.113000	0.50376	2.703000	0.92315	0.650000	0.86243	CCT		PASS	0.398	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			4	62	4	62	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	3165281	3165281	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:3165281C>A	ENST00000520002.1	-	26	4444	c.3889G>T	c.(3889-3891)Gct>Tct	p.A1297S	CSMD1_ENST00000539096.1_Missense_Mutation_p.A1296S|CSMD1_ENST00000537824.1_Missense_Mutation_p.A1296S|CSMD1_ENST00000602557.1_Missense_Mutation_p.A1297S|CSMD1_ENST00000602723.1_Missense_Mutation_p.A1297S|CSMD1_ENST00000542608.1_Missense_Mutation_p.A1296S|CSMD1_ENST00000400186.3_Missense_Mutation_p.A1297S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1297	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.A1025S(1)|p.A1296S(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCATACGGAGCTGGATAGCCA	0.468																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(3889-3891)GCT>TCT		CUB and Sushi multiple domains 1 precursor							167.0	167.0	167.0					8																	3165281		2026	4192	6218	SO:0001583	missense	64478					integral to membrane		g.chr8:3165281C>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3889G>T	8.37:g.3165281C>A	ENSP00000430733:p.Ala1297Ser					CSMD1_uc011kwj.1_Missense_Mutation_p.A689S|CSMD1_uc003wqe.2_Missense_Mutation_p.A453S	p.A1297S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	25	4279	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	1297			Extracellular (Potential).|CUB 8.		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.3889G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.03|13.03	2.114141|2.114141	0.37339|0.37339	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.17528|.	2.27;2.27;2.27;2.27;2.27|.	4.61|4.61	4.61|4.61	0.57282|0.57282	CUB (5);|.	0.073673|.	0.53938|.	D|.	0.000057|.	T|T	0.45216|0.45216	0.1331|0.1331	N|N	0.08118|0.08118	0|0	0.54753|0.54753	D|D	0.999988|0.999988	P;P;P|.	0.40302|.	0.679;0.62;0.712|.	B;B;B|.	0.44044|.	0.439;0.395;0.431|.	T|T	0.42137|0.42137	-0.9469|-0.9469	10|5	0.22109|.	T|.	0.4|.	.|.	17.4557|17.4557	0.87606|0.87606	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1297;1297;1297|.	E5RIG2;Q96PZ7;Q96PZ7-4|.	.;CSMD1_HUMAN;.|.	S|I	1297;1297;1159;1296;1296;1296|776	ENSP00000383047:A1297S;ENSP00000430733:A1297S;ENSP00000441462:A1296S;ENSP00000446243:A1296S;ENSP00000441675:A1296S|.	ENSP00000320445:A1159S|.	A|S	-|-	1|2	0|0	CSMD1|CSMD1	3152688|3152688	0.997000|0.997000	0.39634|0.39634	0.333000|0.333000	0.25482|0.25482	0.800000|0.800000	0.45204|0.45204	3.722000|3.722000	0.54948|0.54948	2.118000|2.118000	0.64928|0.64928	0.650000|0.650000	0.86243|0.86243	GCT|AGC		PASS	0.468	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		68	89	68	89	---	---	---	---
DLC1	10395	broad.mit.edu	37	8	12943812	12943812	+	Silent	SNP	T	T	G	rs371211456		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:12943812T>G	ENST00000276297.4	-	17	4862	c.4453A>C	c.(4453-4455)Aga>Cga	p.R1485R	DLC1_ENST00000520226.1_Silent_p.R974R|DLC1_ENST00000512044.2_Silent_p.R1082R|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Silent_p.R1048R	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1485	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.R1485R(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAGTCAACTCTGCACATGTAG	0.423																																						uc003wwm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(4453-4455)AGA>CGA		deleted in liver cancer 1 isoform 1		T	,,	0,4406		0,0,2203	114.0	103.0	107.0		2920,3142,4453	2.4	1.0	8		107	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	DLC1	NM_001164271.1,NM_006094.4,NM_182643.2	,,	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	,,	974/1018,1048/1092,1485/1529	12943812	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12943812T>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4453A>C	8.37:g.12943812T>G						DLC1_uc003wwk.1_Silent_p.R1048R|DLC1_uc003wwl.1_Silent_p.R1082R|DLC1_uc011kxx.1_Silent_p.R974R	p.R1485R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			17	4897	-			1485			START.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.4453A>C	CCDS5989.1																																																																																				PASS	0.423	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		32	47	32	47	---	---	---	---
STC1	6781	broad.mit.edu	37	8	23708998	23708998	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:23708998A>T	ENST00000290271.2	-	3	591	c.308T>A	c.(307-309)gTc>gAc	p.V103D	STC1_ENST00000524323.1_Missense_Mutation_p.V34D	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	103					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.V103D(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		CTTGGAGGTGACCCCGTTGGC	0.517																																						uc003xdw.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(307-309)GTC>GAC		stanniocalcin 1 precursor							138.0	120.0	126.0					8																	23708998		2203	4300	6503	SO:0001583	missense	6781				cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	g.chr8:23708998A>T		CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.308T>A	8.37:g.23708998A>T	ENSP00000290271:p.Val103Asp						p.V103D	NM_003155	NP_003146	P52823	STC1_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	3	592	-		Prostate(55;0.055)|Breast(100;0.116)	103					B4DN22|Q71UE5	Missense_Mutation	SNP	ENST00000290271.2	37	c.308T>A	CCDS6043.1	.	.	.	.	.	.	.	.	.	.	A	19.29	3.799341	0.70567	.	.	ENSG00000159167	ENST00000290271;ENST00000540277;ENST00000524323	.	.	.	5.75	5.75	0.90469	.	0.278962	0.41712	D	0.000832	T	0.56863	0.2014	L	0.29908	0.895	0.58432	D	0.999996	P	0.41131	0.739	P	0.48114	0.567	T	0.61594	-0.7031	9	0.87932	D	0	-24.3981	14.8904	0.70604	1.0:0.0:0.0:0.0	.	103	P52823	STC1_HUMAN	D	103;34;34	.	ENSP00000290271:V103D	V	-	2	0	STC1	23764943	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.962000	0.93254	2.201000	0.70794	0.533000	0.62120	GTC		PASS	0.517	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215143.1			12	48	12	48	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35583956	35583956	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:35583956C>A	ENST00000404895.2	+	10	1918	c.1590C>A	c.(1588-1590)atC>atA	p.I530I	UNC5D_ENST00000453357.2_Silent_p.I525I|UNC5D_ENST00000449677.1_Silent_p.I106I|UNC5D_ENST00000416672.1_Silent_p.I535I|UNC5D_ENST00000420357.1_Silent_p.I463I|UNC5D_ENST00000287272.2_Silent_p.I461I	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	530					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.I525I(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGCCCTACATCCAAAATCTGT	0.473																																						uc003xjr.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1)	6						c.(1588-1590)ATC>ATA		unc-5 homolog D precursor							125.0	126.0	126.0					8																	35583956		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35583956C>A	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.1590C>A	8.37:g.35583956C>A						UNC5D_uc003xjs.1_Silent_p.I525I|UNC5D_uc003xju.1_Silent_p.I106I|UNC5D_uc003xjt.1_Silent_p.I288I	p.I530I	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	10	1918	+			530			Cytoplasmic (Potential).		Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.1590C>A	CCDS6093.2																																																																																				PASS	0.473	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			58	83	58	83	---	---	---	---
ADAM18	8749	broad.mit.edu	37	8	39537603	39537603	+	Missense_Mutation	SNP	C	C	A	rs140616028		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:39537603C>A	ENST00000265707.5	+	16	1724	c.1679C>A	c.(1678-1680)gCt>gAt	p.A560D	ADAM18_ENST00000379866.1_Missense_Mutation_p.A536D|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	560	Cys-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A560D(1)		NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CATAAAAATGCTAATAAAAGT	0.363																																						uc003xni.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)|kidney(1)|skin(1)	6						c.(1678-1680)GCT>GAT		a disintegrin and metalloprotease domain 18							107.0	97.0	100.0					8																	39537603		2203	4300	6503	SO:0001583	missense	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39537603C>A	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1679C>A	8.37:g.39537603C>A	ENSP00000265707:p.Ala560Asp					ADAM18_uc010lww.2_RNA|ADAM18_uc010lwx.2_Missense_Mutation_p.A536D	p.A560D	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		16	1679	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	560			Cys-rich.|Extracellular (Potential).		B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	ENST00000265707.5	37	c.1679C>A	CCDS6113.1	.	.	.	.	.	.	.	.	.	.	C	9.074	0.997559	0.19043	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.22945	1.93;1.93	3.96	2.15	0.27550	ADAM, cysteine-rich (2);	0.412926	0.17932	N	0.157139	T	0.18718	0.0449	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.20459	0.036;0.045	B;B	0.35770	0.133;0.21	T	0.29458	-1.0011	10	0.72032	D	0.01	.	6.0525	0.19792	0.0:0.7681:0.0:0.2319	.	536;560	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	D	560;536;492	ENSP00000265707:A560D;ENSP00000369195:A536D	ENSP00000265707:A560D	A	+	2	0	ADAM18	39656760	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.102000	0.10956	0.638000	0.30545	0.655000	0.94253	GCT		PASS	0.363	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	NM_014237		22	99	22	99	---	---	---	---
ADAM2	2515	broad.mit.edu	37	8	39624421	39624421	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:39624421T>A	ENST00000265708.4	-	14	1556	c.1453A>T	c.(1453-1455)Ata>Tta	p.I485L	ADAM2_ENST00000347580.4_Missense_Mutation_p.I466L|ADAM2_ENST00000379853.2_Missense_Mutation_p.I359L|ADAM2_ENST00000521880.1_Missense_Mutation_p.I485L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	485	Cys-rich.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I485L(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		ACTCCATCTATACAGATCCAT	0.393																																						uc003xnj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1453-1455)ATA>TTA		ADAM metallopeptidase domain 2 proprotein							154.0	147.0	149.0					8																	39624421		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39624421T>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1453A>T	8.37:g.39624421T>A	ENSP00000265708:p.Ile485Leu					ADAM2_uc003xnk.2_Missense_Mutation_p.I466L|ADAM2_uc011lck.1_Missense_Mutation_p.I485L|ADAM2_uc003xnl.2_Missense_Mutation_p.I359L	p.I485L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	14	1528	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	485			Extracellular (Potential).|Cys-rich.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1453A>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	T	11.53	1.666994	0.29604	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.20881	2.04;2.04;2.04;2.04	5.27	-10.5	0.00291	ADAM, cysteine-rich (2);	.	.	.	.	T	0.07503	0.0189	N	0.17345	0.48	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.11329	0.006;0.003;0.003;0.006	T	0.21690	-1.0238	8	.	.	.	.	1.9542	0.03373	0.2138:0.2341:0.0957:0.4564	.	485;359;466;485	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	L	466;359;485;485	ENSP00000343854:I466L;ENSP00000369182:I359L;ENSP00000265708:I485L;ENSP00000429352:I485L	.	I	-	1	0	ADAM2	39743578	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-2.096000	0.01349	-2.051000	0.00904	0.533000	0.62120	ATA		PASS	0.393	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		71	150	71	150	---	---	---	---
ZMAT4	79698	broad.mit.edu	37	8	40438772	40438772	+	Missense_Mutation	SNP	G	G	T	rs144919411		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:40438772G>T	ENST00000297737.6	-	6	732	c.586C>A	c.(586-588)Cgc>Agc	p.R196S	ZMAT4_ENST00000315769.7_Missense_Mutation_p.R120S	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	196						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R196S(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CTGTAATTGCGCCTCAGACCT	0.463																																						uc003xnr.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(586-588)CGC>AGC		zinc finger, matrin type 4 isoform a							183.0	149.0	161.0					8																	40438772		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40438772G>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.586C>A	8.37:g.40438772G>T	ENSP00000297737:p.Arg196Ser					ZMAT4_uc003xns.2_Missense_Mutation_p.R120S	p.R196S	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		6	732	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	196					Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.586C>A	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	G	13.61	2.289720	0.40494	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.41758	0.99;0.99;1.02	5.38	5.38	0.77491	Zinc finger, U1-type (1);	0.311467	0.35495	N	0.003170	T	0.39682	0.1087	L	0.55017	1.72	0.45930	D	0.998762	B;B	0.22541	0.054;0.071	B;B	0.28849	0.095;0.027	T	0.18304	-1.0341	10	0.27082	T	0.32	-23.0745	11.6947	0.51536	0.0:0.0:0.8234:0.1766	.	120;196	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	S	120;196;196	ENSP00000319785:R120S;ENSP00000297737:R196S;ENSP00000428423:R196S	ENSP00000297737:R196S	R	-	1	0	ZMAT4	40557929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.440000	0.59975	2.498000	0.84270	0.655000	0.94253	CGC		PASS	0.463	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645		23	90	23	90	---	---	---	---
POTEA	340441	broad.mit.edu	37	8	43197461	43197461	+	RNA	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:43197461G>C	ENST00000522175.2	+	0	1214							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.M450I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AACTCAAAATGGATTTTAACG	0.368																																						uc003xpz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1348-1350)ATG>ATC		POTE ankyrin domain family, member A isoform 2							122.0	116.0	118.0					8																	43197461		1859	4093	5952			340441							g.chr8:43197461G>C	AY462869		8p11.1	2013-01-11	2008-11-26	2008-11-26	ENSG00000188877	ENSG00000188877		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33893	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 3"""	608915	"""ANKRD26-like family A, member 1"""	A26A1			Standard	NM_001002920		Approved	POTE8, POTE-8, CT104.3	uc003xpz.1	Q6S8J7	OTTHUMG00000164111		8.37:g.43197461G>C						POTEA_uc003xqa.1_Missense_Mutation_p.M404I	p.M450I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN			11	1393	+			450					A6ND17|A6ND71|Q6S8J6	Missense_Mutation	SNP	ENST00000522175.2	37	c.1350G>C																																																																																					PASS	0.368	POTEA-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000383492.1	NM_001002920		53	124	53	124	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55533890	55533890	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:55533890C>T	ENST00000220676.1	+	2	512	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	122					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.R122W(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAAAGCCCGTCGGCGCCCGCG	0.711																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(364-366)CGG>TGG		retinitis pigmentosa RP1 protein							31.0	36.0	34.0					8																	55533890		2202	4298	6500	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533890C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.364C>T	8.37:g.55533890C>T	ENSP00000220676:p.Arg122Trp					RP1_uc011ldy.1_Missense_Mutation_p.R122W	p.R122W	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	512	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	122						Missense_Mutation	SNP	ENST00000220676.1	37	c.364C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705258	0.48412	.	.	ENSG00000104237	ENST00000220676	D	0.86769	-2.17	5.17	3.18	0.36537	Doublecortin domain (2);	0.544756	0.16254	N	0.222547	D	0.91912	0.7439	M	0.76574	2.34	0.09310	N	1	D	0.89917	1.0	D	0.66979	0.948	D	0.84204	0.0452	10	0.87932	D	0	-0.0354	11.7779	0.51995	0.5847:0.4153:0.0:0.0	.	122	P56715	RP1_HUMAN	W	122	ENSP00000220676:R122W	ENSP00000220676:R122W	R	+	1	2	RP1	55696443	0.005000	0.15991	0.304000	0.25085	0.333000	0.28666	0.522000	0.22909	1.114000	0.41781	0.650000	0.86243	CGG		PASS	0.711	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		35	41	35	41	---	---	---	---
ASPH	444	broad.mit.edu	37	8	62460751	62460751	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:62460751T>A	ENST00000379454.4	-	21	1830	c.1643A>T	c.(1642-1644)gAg>gTg	p.E548V	ASPH_ENST00000541428.1_Missense_Mutation_p.E519V	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	548					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)	p.E548V(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GTGCCCAAGCTCATACCACTT	0.398																																						uc003xuj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1642-1644)GAG>GTG		aspartate beta-hydroxylase isoform a	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						117.0	101.0	106.0					8																	62460751		2203	4300	6503	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62460751T>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.1643A>T	8.37:g.62460751T>A	ENSP00000368767:p.Glu548Val					ASPH_uc011leg.1_Missense_Mutation_p.E519V	p.E548V	NM_004318	NP_004309	Q12797	ASPH_HUMAN			21	1912	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	548			TPR 4.|Lumenal (Potential).		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.1643A>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874736	0.91664	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.36520	1.27;1.25	5.69	5.69	0.88448	.	0.052245	0.64402	D	0.000001	T	0.55353	0.1915	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.997;0.995	D;P	0.65233	0.933;0.858	T	0.57213	-0.7850	10	0.62326	D	0.03	-32.3756	15.9479	0.79806	0.0:0.0:0.0:1.0	.	519;548	F5H667;Q12797	.;ASPH_HUMAN	V	519;548	ENSP00000437864:E519V;ENSP00000368767:E548V	ENSP00000368767:E548V	E	-	2	0	ASPH	62623305	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.514000	0.81750	2.165000	0.68154	0.528000	0.53228	GAG		PASS	0.398	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		31	102	31	102	---	---	---	---
SLCO5A1	81796	broad.mit.edu	37	8	70585235	70585235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:70585235C>A	ENST00000260126.4	-	10	3122	c.2416G>T	c.(2416-2418)Gaa>Taa	p.E806*	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Nonsense_Mutation_p.E751*	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	806						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.E806*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCAGTCTCTTCGTGGAATTCT	0.587																																						uc003xyl.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.(2416-2418)GAA>TAA		solute carrier organic anion transporter family,							94.0	89.0	91.0					8																	70585235		2203	4300	6503	SO:0001587	stop_gained	81796					integral to membrane|plasma membrane	transporter activity	g.chr8:70585235C>A	AF205075	CCDS6205.1, CCDS55242.1, CCDS55243.1	8q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000137571	ENSG00000137571		"""Solute carriers"""	19046	protein-coding gene	gene with protein product		613543	"""solute carrier family 21 (organic anion transporter), member 15"""	SLC21A15		12507753	Standard	NM_030958		Approved	OATPRP4, OATP-J, OATP5A1	uc003xyl.3	Q9H2Y9	OTTHUMG00000165121	ENST00000260126.4:c.2416G>T	8.37:g.70585235C>A	ENSP00000260126:p.Glu806*					SLCO5A1_uc010lzb.2_Nonsense_Mutation_p.E751*|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_3'UTR	p.E806*	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)		10	3123	-	Breast(64;0.0654)		806			Cytoplasmic (Potential).		A4QPC2|B2RPF7|B3KMU7|E9PKK5|G3V1C0	Nonsense_Mutation	SNP	ENST00000260126.4	37	c.2416G>T	CCDS6205.1	.	.	.	.	.	.	.	.	.	.	C	38	7.117718	0.98074	.	.	ENSG00000137571	ENST00000260126;ENST00000530307	.	.	.	5.93	5.93	0.95920	.	0.542088	0.20106	N	0.099121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.1254	0.93380	0.0:1.0:0.0:0.0	.	.	.	.	X	806;751	.	ENSP00000260126:E806X	E	-	1	0	SLCO5A1	70747789	0.999000	0.42202	0.979000	0.43373	0.989000	0.77384	4.637000	0.61346	2.826000	0.97356	0.655000	0.94253	GAA		PASS	0.587	SLCO5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381990.3	NM_030958		61	77	61	77	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77616444	77616444	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:77616444G>T	ENST00000521891.2	+	2	569	c.121G>T	c.(121-123)Gac>Tac	p.D41Y	ZFHX4_ENST00000455469.2_Missense_Mutation_p.D41Y|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D41Y|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D41Y|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	41					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.D41Y(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATGGAGCCTGACAGGGAAAA	0.498										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(121-123)GAC>TAC		zinc finger homeodomain 4							66.0	70.0	69.0					8																	77616444		2028	4213	6241	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77616444G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.121G>T	8.37:g.77616444G>T	ENSP00000430497:p.Asp41Tyr	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.D41Y|ZFHX4_uc003yau.1_Missense_Mutation_p.D41Y|ZFHX4_uc003yaw.1_Missense_Mutation_p.D41Y	p.D41Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	508	+			41					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.121G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229292	0.39399	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000520307;ENST00000523885;ENST00000517585;ENST00000523809;ENST00000518282	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	5.53	5.53	0.82687	.	0.000000	0.47093	U	0.000256	T	0.43478	0.1249	N	0.19112	0.55	0.48452	D	0.999658	D;D;D;D	0.65815	0.976;0.995;0.986;0.995	P;P;P;P	0.58172	0.556;0.742;0.742;0.834	T	0.38908	-0.9639	10	0.62326	D	0.03	.	19.6556	0.95837	0.0:0.0:1.0:0.0	.	41;41;41;41	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	Y	41	ENSP00000430497:D41Y;ENSP00000399605:D41Y;ENSP00000050961:D41Y;ENSP00000428525:D41Y;ENSP00000429495:D41Y;ENSP00000427775:D41Y;ENSP00000427739:D41Y;ENSP00000430848:D41Y	ENSP00000050961:D41Y	D	+	1	0	ZFHX4	77778999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.259000	0.65485	2.882000	0.98803	0.655000	0.94253	GAC		PASS	0.498	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		7	71	7	71	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77766009	77766009	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:77766009T>A	ENST00000521891.2	+	10	7300	c.6852T>A	c.(6850-6852)agT>agA	p.S2284R	ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2239R|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2258R|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2239R	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.S2268R(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CACGAAAGAGTTATGAGAATC	0.388										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6715-6717)AGT>AGA		zinc finger homeodomain 4							83.0	80.0	81.0					8																	77766009		1891	4114	6005	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766009T>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6852T>A	8.37:g.77766009T>A	ENSP00000430497:p.Ser2284Arg	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.S2284R|ZFHX4_uc003yaw.1_Missense_Mutation_p.S2239R	p.S2239R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7104	+			2239			Homeobox 2.		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.6717T>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	13.34	2.206916	0.39003	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	4.19	0.408	0.16377	Homeodomain-related (1);Homeobox (2);Homeodomain-like (1);	0.000000	0.52532	U	0.000073	D	0.83211	0.5205	N	0.11698	0.16	0.44136	D	0.996929	B;P;P	0.36837	0.435;0.571;0.571	B;B;B	0.42692	0.221;0.395;0.395	T	0.73297	-0.4027	10	0.30078	T	0.28	.	7.2029	0.25891	0.0:0.33:0.0:0.67	.	2239;2239;2284	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	R	2284;2268;2239;2239;2258	ENSP00000430497:S2284R;ENSP00000399605:S2239R;ENSP00000050961:S2239R;ENSP00000430848:S2258R	ENSP00000050961:S2239R	S	+	3	2	ZFHX4	77928564	1.000000	0.71417	0.991000	0.47740	0.942000	0.58702	0.718000	0.25866	-0.007000	0.14345	0.528000	0.53228	AGT		PASS	0.388	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		18	21	18	21	---	---	---	---
WWP1	11059	broad.mit.edu	37	8	87424104	87424104	+	Splice_Site	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:87424104G>T	ENST00000517970.1	+	9	1368		c.e9+1		WWP1_ENST00000265428.4_Splice_Site|WWP1_ENST00000349423.2_Splice_Site|WWP1_ENST00000341922.2_Splice_Site	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1						central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGCCATCAGGGTATGTTAAGC	0.403																																						uc003ydt.2																			1	Unknown(1)		lung(1)	lung(1)|liver(1)	2						c.e9+1		WW domain containing E3 ubiquitin protein ligase							45.0	43.0	44.0					8																	87424104		2203	4299	6502	SO:0001630	splice_region_variant	11059				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr8:87424104G>T	AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.1061+1G>T	8.37:g.87424104G>T						WWP1_uc010mai.2_Splice_Site_p.G130_splice	p.G354_splice	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN			9	1341	+								O00307|Q5YLC1|Q96BP4	Splice_Site	SNP	ENST00000517970.1	37	c.1061_splice	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514849	0.64634	.	.	ENSG00000123124	ENST00000517970;ENST00000265428;ENST00000341922;ENST00000349423	.	.	.	6.07	5.2	0.72013	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7332	0.62802	0.0708:0.0:0.9292:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	WWP1	87493220	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	6.069000	0.71209	1.587000	0.49959	-0.145000	0.13849	.		PASS	0.403	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	Intron	20	78	20	78	---	---	---	---
CPNE3	8895	broad.mit.edu	37	8	87549866	87549866	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:87549866C>T	ENST00000521271.1	+	7	697	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	CPNE3_ENST00000198765.4_Missense_Mutation_p.R179W	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	179	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid metabolic process (GO:0006629)|protein phosphorylation (GO:0006468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	calcium-dependent phospholipid binding (GO:0005544)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|transporter activity (GO:0005215)	p.R179W(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						AATGGTTCATCGGACAGAGGT	0.323																																						uc003ydv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(535-537)CGG>TGG		copine III							126.0	114.0	118.0					8																	87549866		2203	4300	6503	SO:0001583	missense	8895				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity	g.chr8:87549866C>T	AB014536	CCDS6243.1	8q21	2008-07-03				ENSG00000085719			2316	protein-coding gene	gene with protein product		604207				9430674	Standard	NM_003909		Approved		uc003ydv.2	O75131		ENST00000521271.1:c.535C>T	8.37:g.87549866C>T	ENSP00000430934:p.Arg179Trp						p.R179W	NM_003909	NP_003900	O75131	CPNE3_HUMAN			7	697	+			179			C2 2.		A8KA47|Q8IYA1	Missense_Mutation	SNP	ENST00000521271.1	37	c.535C>T	CCDS6243.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.162009	0.78226	.	.	ENSG00000085719	ENST00000198765;ENST00000521271;ENST00000523072	T;T;T	0.49720	0.77;0.77;0.77	5.63	4.67	0.58626	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77068	0.4076	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.83784	0.0227	10	0.87932	D	0	-18.6989	13.284	0.60232	0.273:0.727:0.0:0.0	.	179	O75131	CPNE3_HUMAN	W	179	ENSP00000198765:R179W;ENSP00000430934:R179W;ENSP00000427791:R179W	ENSP00000198765:R179W	R	+	1	2	CPNE3	87618982	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.499000	0.60380	2.644000	0.89710	0.655000	0.94253	CGG		PASS	0.323	CPNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374994.1			53	88	53	88	---	---	---	---
SPAG1	6674	broad.mit.edu	37	8	101252883	101252883	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:101252883C>G	ENST00000388798.2	+	18	2724	c.2533C>G	c.(2533-2535)Ctt>Gtt	p.L845V	SPAG1_ENST00000251809.3_Missense_Mutation_p.L845V	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	845					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.L845V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AAGTAACAAACTTGAAGGGGA	0.368																																						uc003yjh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2533-2535)CTT>GTT		sperm associated antigen 1							78.0	74.0	76.0					8																	101252883		2203	4300	6503	SO:0001583	missense	6674				single fertilization	cytoplasm	GTP binding|hydrolase activity	g.chr8:101252883C>G	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.2533C>G	8.37:g.101252883C>G	ENSP00000373450:p.Leu845Val					SPAG1_uc003yji.1_Missense_Mutation_p.L845V	p.L845V	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)	18	2619	+	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	845					A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Missense_Mutation	SNP	ENST00000388798.2	37	c.2533C>G	CCDS34930.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528302	0.64860	.	.	ENSG00000104450	ENST00000251809;ENST00000388798	T;T	0.65732	-0.17;-0.17	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	M	0.66939	2.045	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	T	0.77913	-0.2410	10	0.87932	D	0	-16.4742	13.6699	0.62418	0.0:0.9294:0.0:0.0706	.	845	Q07617	SPAG1_HUMAN	V	845	ENSP00000251809:L845V;ENSP00000373450:L845V	ENSP00000251809:L845V	L	+	1	0	SPAG1	101322059	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	4.838000	0.62803	2.941000	0.99782	0.655000	0.94253	CTT		PASS	0.368	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379853.2	NM_172218		59	66	59	66	---	---	---	---
RSPO2	340419	broad.mit.edu	37	8	108970453	108970453	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:108970453G>T	ENST00000276659.5	-	5	1091	c.471C>A	c.(469-471)agC>agA	p.S157R	RSPO2_ENST00000517939.1_Missense_Mutation_p.S90R|RSPO2_ENST00000517781.1_Missense_Mutation_p.S93R|RSPO2_ENST00000378439.2_Missense_Mutation_p.S93R	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	157	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.S157S(1)|p.S157R(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GATTATTTCTGCTACAAGTTC	0.373																																						uc003yms.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		prostate(1)|lung(1)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(469-471)AGC>AGA		R-spondin family, member 2 precursor							161.0	152.0	155.0					8																	108970453		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108970453G>T	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.471C>A	8.37:g.108970453G>T	ENSP00000276659:p.Ser157Arg					RSPO2_uc003ymq.2_Missense_Mutation_p.S90R|RSPO2_uc003ymr.2_Missense_Mutation_p.S93R	p.S157R	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		5	1129	-			157			TSP type-1.		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.471C>A	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517226	0.85495	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.87	5.87	0.94306	Growth factor, receptor (1);	0.166789	0.64402	D	0.000003	T	0.34542	0.0901	L	0.60904	1.88	0.49051	D	0.999748	P;P	0.47677	0.899;0.764	P;B	0.45681	0.49;0.305	T	0.01386	-1.1368	10	0.21540	T	0.41	-2.1648	20.5827	0.99408	0.0:0.0:1.0:0.0	.	157;93	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	R	90;93;93;157;90	ENSP00000428940:S90R;ENSP00000427937:S93R;ENSP00000367698:S93R;ENSP00000276659:S157R;ENSP00000428614:S90R	ENSP00000276659:S157R	S	-	3	2	RSPO2	109039629	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.149000	0.64863	2.941000	0.99782	0.655000	0.94253	AGC		PASS	0.373	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		95	117	95	117	---	---	---	---
RSPO2	340419	broad.mit.edu	37	8	108972938	108972938	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:108972938C>A	ENST00000276659.5	-	4	1011	c.391G>T	c.(391-393)Ggt>Tgt	p.G131C	RSPO2_ENST00000517939.1_Missense_Mutation_p.G64C|RSPO2_ENST00000517781.1_Missense_Mutation_p.G68C|RSPO2_ENST00000378439.2_Missense_Mutation_p.G68C	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	131					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.G131C(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GGTGCAAAACCATCTGGACAT	0.348																																						uc003yms.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(391-393)GGT>TGT		R-spondin family, member 2 precursor							104.0	96.0	98.0					8																	108972938		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:108972938C>A	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.391G>T	8.37:g.108972938C>A	ENSP00000276659:p.Gly131Cys					RSPO2_uc003ymq.2_Missense_Mutation_p.G64C|RSPO2_uc003ymr.2_Missense_Mutation_p.G68C	p.G131C	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		4	1049	-			131			FU.		B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.391G>T	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.963013	0.92791	.	.	ENSG00000147655	ENST00000517939;ENST00000517781;ENST00000378439;ENST00000276659;ENST00000521502;ENST00000521757	T;T;T;D;D;D	0.91068	0.8;0.8;0.8;-2.78;-2.78;-2.78	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.96987	0.9016	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.98	D	0.97195	0.9860	10	0.66056	D	0.02	-0.2285	20.2154	0.98294	0.0:1.0:0.0:0.0	.	131;68	Q6UXX9;Q6UXX9-3	RSPO2_HUMAN;.	C	64;68;68;131;64;64	ENSP00000428940:G64C;ENSP00000427937:G68C;ENSP00000367698:G68C;ENSP00000276659:G131C;ENSP00000428614:G64C;ENSP00000430485:G64C	ENSP00000276659:G131C	G	-	1	0	RSPO2	109042114	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.769000	0.85360	2.788000	0.95919	0.551000	0.68910	GGT		PASS	0.348	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		31	129	31	129	---	---	---	---
RSPO2	340419	broad.mit.edu	37	8	109001408	109001408	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:109001408G>C	ENST00000276659.5	-	3	779	c.159C>G	c.(157-159)agC>agG	p.S53R	RSPO2_ENST00000517939.1_5'UTR|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	53					bone mineralization (GO:0030282)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|lung growth (GO:0060437)|osteoblast differentiation (GO:0001649)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)|receptor binding (GO:0005102)	p.S53R(1)	EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			GTTGACATCGGCTACACCCAT	0.428																																						uc003yms.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(1)|lung(1)	7						c.(157-159)AGC>AGG		R-spondin family, member 2 precursor							113.0	94.0	100.0					8																	109001408		2203	4300	6503	SO:0001583	missense	340419				Wnt receptor signaling pathway	extracellular region	heparin binding	g.chr8:109001408G>C	AK123023	CCDS6307.1, CCDS64953.1	8q23.1	2014-01-30	2011-06-29		ENSG00000147655	ENSG00000147655		"""Endogenous ligands"""	28583	protein-coding gene	gene with protein product		610575	"""R-spondin 2 homolog (Xenopus laevis)"""			15469841	Standard	NM_178565		Approved	MGC35555	uc003yms.3	Q6UXX9	OTTHUMG00000164893	ENST00000276659.5:c.159C>G	8.37:g.109001408G>C	ENSP00000276659:p.Ser53Arg					RSPO2_uc003ymq.2_5'UTR|RSPO2_uc003ymr.2_Intron	p.S53R	NM_178565	NP_848660	Q6UXX9	RSPO2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)		3	817	-			53					B3KVP0|Q4G0U4|Q8N6X6	Missense_Mutation	SNP	ENST00000276659.5	37	c.159C>G	CCDS6307.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.154097	0.38021	.	.	ENSG00000147655	ENST00000276659;ENST00000521956;ENST00000520026;ENST00000522333	T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01	4.93	3.13	0.36017	Growth factor, receptor (1);	0.145199	0.64402	D	0.000007	T	0.64103	0.2568	N	0.25426	0.745	0.80722	D	1	B	0.29716	0.255	B	0.28784	0.094	T	0.58261	-0.7667	10	0.37606	T	0.19	-6.1031	11.245	0.48991	0.1501:0.0:0.8499:0.0	.	53	Q6UXX9	RSPO2_HUMAN	R	53;53;25;53	ENSP00000276659:S53R;ENSP00000430010:S53R;ENSP00000429159:S25R;ENSP00000430973:S53R	ENSP00000276659:S53R	S	-	3	2	RSPO2	109070584	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.194000	0.51005	0.605000	0.29947	-0.251000	0.11542	AGC		PASS	0.428	RSPO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380830.1	NM_178565		61	60	61	60	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113331147	113331147	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:113331147A>T	ENST00000297405.5	-	47	7523	c.7279T>A	c.(7279-7281)Ttt>Att	p.F2427I	CSMD3_ENST00000352409.3_Missense_Mutation_p.F2357I|CSMD3_ENST00000343508.3_Missense_Mutation_p.F2387I|CSMD3_ENST00000455883.2_Missense_Mutation_p.F2323I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2427	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.F2387I(1)|p.F2427I(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTAAAGTAAATCCTGGAAGA	0.368										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7279-7281)TTT>ATT		CUB and Sushi multiple domains 3 isoform 1							102.0	93.0	96.0					8																	113331147		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113331147A>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7279T>A	8.37:g.113331147A>T	ENSP00000297405:p.Phe2427Ile	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.F1629I|CSMD3_uc003ynt.2_Missense_Mutation_p.F2387I|CSMD3_uc011lhx.1_Missense_Mutation_p.F2323I|CSMD3_uc003ynw.1_Missense_Mutation_p.F138I	p.F2427I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			47	7438	-			2427			Extracellular (Potential).|Sushi 13.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.7279T>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	33	5.274417	0.95459	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.82	5.82	0.92795	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.67069	0.2854	H	0.94542	3.55	0.58432	D	0.999994	D;D;D	0.71674	0.997;0.998;0.997	D;D;D	0.74348	0.971;0.983;0.979	T	0.77349	-0.2621	10	0.72032	D	0.01	.	16.1896	0.81977	1.0:0.0:0.0:0.0	.	2323;2427;2387	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	I	2387;2427;1697;2323;2357	ENSP00000345799:F2387I;ENSP00000297405:F2427I;ENSP00000341558:F1697I;ENSP00000412263:F2323I;ENSP00000343124:F2357I	ENSP00000297405:F2427I	F	-	1	0	CSMD3	113400323	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	8.956000	0.93066	2.236000	0.73375	0.472000	0.43445	TTT		PASS	0.368	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		34	97	34	97	---	---	---	---
SLC30A8	169026	broad.mit.edu	37	8	118159291	118159291	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:118159291C>A	ENST00000456015.2	+	2	170	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	SLC30A8_ENST00000519688.1_Missense_Mutation_p.S8Y|SLC30A8_ENST00000521243.1_Missense_Mutation_p.S8Y|SLC30A8_ENST00000427715.2_Missense_Mutation_p.S8Y	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	57					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.S57Y(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CACAGTGGCTCCAAGCCCACA	0.507																																					Ovarian(162;1202 1922 6011 16223 52092)	uc003yoh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(169-171)TCC>TAC		solute carrier family 30 member 8							158.0	136.0	143.0					8																	118159291		2203	4300	6503	SO:0001583	missense	169026				insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	g.chr8:118159291C>A		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.170C>A	8.37:g.118159291C>A	ENSP00000415011:p.Ser57Tyr					SLC30A8_uc010mcz.2_Missense_Mutation_p.S8Y|SLC30A8_uc011lia.1_Missense_Mutation_p.S8Y|SLC30A8_uc003yog.2_Missense_Mutation_p.S8Y	p.S57Y	NM_173851	NP_776250	Q8IWU4	ZNT8_HUMAN	STAD - Stomach adenocarcinoma(47;0.203)		2	400	+	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		57			Cytoplasmic (Potential).		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation	SNP	ENST00000456015.2	37	c.170C>A	CCDS6322.1	.	.	.	.	.	.	.	.	.	.	C	8.121	0.780866	0.16120	.	.	ENSG00000164756	ENST00000521243;ENST00000524274;ENST00000427715;ENST00000519688;ENST00000456015	T;T;T;T	0.65178	-0.11;-0.11;-0.11;-0.14	5.97	0.848	0.18966	.	0.659026	0.15914	N	0.238478	T	0.44435	0.1293	N	0.19112	0.55	0.09310	N	1	B	0.26975	0.165	B	0.32211	0.142	T	0.37150	-0.9718	10	0.56958	D	0.05	-0.3551	6.5296	0.22320	0.0:0.4247:0.361:0.2143	.	57	Q8IWU4	ZNT8_HUMAN	Y	8;8;8;8;57	ENSP00000428545:S8Y;ENSP00000407505:S8Y;ENSP00000431069:S8Y;ENSP00000415011:S57Y	ENSP00000407505:S8Y	S	+	2	0	SLC30A8	118228472	0.000000	0.05858	0.011000	0.14972	0.003000	0.03518	-0.108000	0.10857	-0.119000	0.11830	-0.165000	0.13383	TCC		PASS	0.507	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851		74	159	74	159	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124140744	124140744	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:124140744T>C	ENST00000287380.1	+	14	2198	c.2108T>C	c.(2107-2109)tTa>tCa	p.L703S	TBC1D31_ENST00000521676.1_Missense_Mutation_p.L580S|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Missense_Mutation_p.L703S|TBC1D31_ENST00000522420.1_Missense_Mutation_p.L598S|TBC1D31_ENST00000327098.5_Missense_Mutation_p.L703S|TBC1D31_ENST00000378080.2_Missense_Mutation_p.L598S	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	703						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.L703S(1)									TTGGATTACTTAAGAGAGAGG	0.299																																						uc003ypp.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2107-2109)TTA>TCA		WD repeat domain 67 isoform 1							57.0	56.0	56.0					8																	124140744		2203	4300	6503	SO:0001583	missense	93594					centrosome	Rab GTPase activator activity	g.chr8:124140744T>C	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2108T>C	8.37:g.124140744T>C	ENSP00000287380:p.Leu703Ser					WDR67_uc011lig.1_Missense_Mutation_p.L703S|WDR67_uc011lih.1_Missense_Mutation_p.L593S|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Intron|WDR67_uc003ypt.1_Missense_Mutation_p.L160S|WDR67_uc003ypu.1_Missense_Mutation_p.L160S	p.L703S	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		14	2198	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		703					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Missense_Mutation	SNP	ENST00000287380.1	37	c.2108T>C	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449986	0.43531	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000378080	T;T;T;T;T;T	0.80994	-0.31;-0.27;-0.2;-0.77;-1.11;-1.44	5.73	5.73	0.89815	.	0.077069	0.48767	D	0.000171	D	0.89938	0.6860	M	0.81942	2.565	0.47037	D	0.999292	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.75484	0.94;0.986;0.981	D	0.91275	0.5047	10	0.87932	D	0	-13.0434	16.011	0.80404	0.0:0.0:0.0:1.0	.	703;703;703	B7ZL19;Q96DN5-2;Q96DN5	.;.;WDR67_HUMAN	S	703;703;703;598;580;598	ENSP00000287380:L703S;ENSP00000308358:L703S;ENSP00000312701:L703S;ENSP00000429334:L598S;ENSP00000430628:L580S;ENSP00000367320:L598S	ENSP00000287380:L703S	L	+	2	0	WDR67	124209925	1.000000	0.71417	0.167000	0.22817	0.248000	0.25809	5.732000	0.68563	2.185000	0.69588	0.477000	0.44152	TTA		PASS	0.299	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		13	108	13	108	---	---	---	---
ADCY8	114	broad.mit.edu	37	8	131797656	131797656	+	Silent	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:131797656G>C	ENST00000286355.5	-	16	5218	c.3126C>G	c.(3124-3126)gcC>gcG	p.A1042A	ADCY8_ENST00000377928.3_Silent_p.A911A	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1042					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.A1042A(3)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGCCTGACACGGCCATGTAGG	0.498										HNSCC(32;0.087)																												uc003ytd.3																			3	Substitution - coding silent(3)		lung(3)	skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(3124-3126)GCC>GCG		adenylate cyclase 8							113.0	96.0	102.0					8																	131797656		2203	4300	6503	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:131797656G>C	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.3126C>G	8.37:g.131797656G>C		HNSCC(32;0.087)				ADCY8_uc010mds.2_Silent_p.A911A	p.A1042A	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		16	3382	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		1042			Cytoplasmic (Potential).			Silent	SNP	ENST00000286355.5	37	c.3126C>G	CCDS6363.1																																																																																				PASS	0.498	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1			17	137	17	137	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133144504	133144504	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:133144504G>T	ENST00000388996.4	-	14	2227	c.1807C>A	c.(1807-1809)Cca>Aca	p.P603T	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P591T|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P483T	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	603					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.P603T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GCTACATATGGTTCATTCCTA	0.413																																						uc003ytj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1807-1809)CCA>ACA		potassium voltage-gated channel KQT-like protein							138.0	129.0	132.0					8																	133144504		2203	4300	6503	SO:0001583	missense	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133144504G>T	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1807C>A	8.37:g.133144504G>T	ENSP00000373648:p.Pro603Thr					KCNQ3_uc010mdt.2_Missense_Mutation_p.P591T	p.P603T	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		14	2032	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		603					A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	c.1807C>A	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730906	0.69074	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.98996	-5.21;-5.19;-5.31	5.68	5.68	0.88126	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.181233	0.49305	D	0.000152	D	0.98134	0.9384	L	0.29908	0.895	0.46416	D	0.999038	P;P	0.52842	0.956;0.956	P;P	0.53006	0.715;0.715	D	0.98561	1.0641	10	0.49607	T	0.09	-14.2542	19.1431	0.93452	0.0:0.0:1.0:0.0	.	591;603	E7ET42;O43525	.;KCNQ3_HUMAN	T	603;483;591;580;482	ENSP00000373648:P603T;ENSP00000429799:P483T;ENSP00000428790:P591T	ENSP00000373648:P603T	P	-	1	0	KCNQ3	133213686	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.351000	0.66022	2.838000	0.97847	0.591000	0.81541	CCA		PASS	0.413	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		59	83	59	83	---	---	---	---
PTP4A3	11156	broad.mit.edu	37	8	142432440	142432440	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:142432440A>C	ENST00000521578.1	+	2	1045	c.100A>C	c.(100-102)Att>Ctt	p.I34L	PTP4A3_ENST00000524028.1_Missense_Mutation_p.I34L|PTP4A3_ENST00000349124.1_Missense_Mutation_p.I34L|PTP4A3_ENST00000329397.1_Missense_Mutation_p.I34L|PTP4A3_ENST00000520105.1_Missense_Mutation_p.I34L			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	34					peptidyl-tyrosine dephosphorylation (GO:0035335)	endosome (GO:0005768)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)	p.I34L(1)		endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			CAGCACCTTCATTGAGGTGAG	0.657																																						uc003ywg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)ATT>CTT		protein tyrosine phosphatase type IVA, member 3							90.0	82.0	84.0					8																	142432440		2203	4300	6503	SO:0001583	missense	11156					early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr8:142432440A>C	AF041434	CCDS6382.1, CCDS6383.1	8q24.3	2011-06-09				ENSG00000184489		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9636	protein-coding gene	gene with protein product		606449					Standard	NM_032611		Approved	PRL-3, PRL-R, PRL3	uc003ywg.1	O75365		ENST00000521578.1:c.100A>C	8.37:g.142432440A>C	ENSP00000428976:p.Ile34Leu					PTP4A3_uc003ywh.1_Missense_Mutation_p.I34L|PTP4A3_uc010met.1_Missense_Mutation_p.I34L	p.I34L	NM_032611	NP_116000	O75365	TP4A3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0474)		1	434	+	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		34					Q8IVN5|Q99849|Q9BTW5	Missense_Mutation	SNP	ENST00000521578.1	37	c.100A>C	CCDS6383.1	.	.	.	.	.	.	.	.	.	.	A	10.50	1.366615	0.24771	.	.	ENSG00000184489	ENST00000521578;ENST00000520105;ENST00000523147;ENST00000329397;ENST00000349124;ENST00000524028	D;T;D;T	0.95171	-3.63;0.88;-3.63;0.88	4.89	2.41	0.29592	.	0.195309	0.43260	D	0.000598	D	0.89396	0.6703	L	0.48986	1.54	0.58432	D	0.999999	B;B	0.02656	0.0;0.0	B;B	0.10450	0.001;0.005	T	0.79857	-0.1626	10	0.38643	T	0.18	-9.8328	2.6124	0.04895	0.6136:0.1533:0.0852:0.1479	.	34;34	O75365-2;O75365	.;TP4A3_HUMAN	L	34	ENSP00000428976:I34L;ENSP00000428758:I34L;ENSP00000332274:I34L;ENSP00000331730:I34L	ENSP00000332274:I34L	I	+	1	0	PTP4A3	142501622	1.000000	0.71417	0.932000	0.37286	0.227000	0.25037	3.255000	0.51484	0.213000	0.20722	0.402000	0.26972	ATT		PASS	0.657	PTP4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378977.1	NM_032611		3	133	3	133	---	---	---	---
LYNX1	66004	broad.mit.edu	37	8	143846081	143846081	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:143846081C>A	ENST00000335822.5	-	5	965	c.338G>T	c.(337-339)gGc>gTc	p.G113V	LYNX1_ENST00000317543.7_Missense_Mutation_p.G79V|LYNX1_ENST00000523332.1_Intron|RP11-706C16.7_ENST00000523657.1_RNA	NM_023946.2	NP_076435.1	Q9BZG9	LYNX1_HUMAN	Ly6/neurotoxin 1	113	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.G79V(1)|p.G113V(1)		endometrium(1)|lung(2)|skin(1)	4	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGGCCCAGGCCCAGGCTGGG	0.642																																						uc003yxb.2																			2	Substitution - Missense(2)		lung(2)		0						c.(337-339)GGC>GTC		Ly-6 neurotoxin-like protein 1 isoform a							78.0	77.0	77.0					8																	143846081		2203	4300	6503	SO:0001583	missense	66004					anchored to membrane|plasma membrane		g.chr8:143846081C>A	AF321824	CCDS6389.1, CCDS34951.1, CCDS34952.1	8q24.3	2008-03-12			ENSG00000180155	ENSG00000180155			29604	protein-coding gene	gene with protein product		606110				12573258, 10402197	Standard	NM_023946		Approved	SLURP2	uc003yxd.1	Q9BZG9	OTTHUMG00000164694	ENST00000335822.5:c.338G>T	8.37:g.143846081C>A	ENSP00000337950:p.Gly113Val					LYNX1_uc003yxa.2_Missense_Mutation_p.G79V	p.G113V	NM_023946	NP_076435	Q9BZG9	LYNX1_HUMAN			5	965	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		Error:Variant_position_missing_in_Q9BZG9_after_alignment					D3DWI7|G3XAC2|Q86SR0	Missense_Mutation	SNP	ENST00000335822.5	37	c.338G>T	CCDS34951.1	.	.	.	.	.	.	.	.	.	.	C	10.89	1.478964	0.26511	.	.	ENSG00000180155	ENST00000317543;ENST00000335822	T;T	0.68025	-0.3;-0.3	3.18	0.292	0.15737	CD59 antigen (1);	1.003840	0.08030	N	0.993409	T	0.70996	0.3288	L	0.47190	1.495	0.09310	N	0.999992	D;D	0.63046	0.971;0.992	P;P	0.62740	0.775;0.906	T	0.57481	-0.7804	10	0.87932	D	0	-10.9248	5.2607	0.15571	0.0:0.5837:0.0:0.4163	.	113;79	G3XAC2;Q86SR0	.;SLUR2_HUMAN	V	79;113	ENSP00000319846:G79V;ENSP00000337950:G113V	ENSP00000319846:G79V	G	-	2	0	LYNX1	143843083	0.001000	0.12720	0.189000	0.23252	0.329000	0.28539	-0.177000	0.09796	0.037000	0.15575	0.407000	0.27541	GGC		PASS	0.642	LYNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000379786.3	NM_177476		23	72	23	72	---	---	---	---
GPAA1	8733	broad.mit.edu	37	8	145138899	145138899	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr8:145138899G>T	ENST00000355091.4	+	5	693	c.572G>T	c.(571-573)gGc>gTc	p.G191V	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.G131V	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	191					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein complex assembly (GO:0006461)|protein retention in ER lumen (GO:0006621)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	tubulin binding (GO:0015631)	p.G191V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GACCTTCTGGGCACTGAGGCT	0.562																																						uc003zax.2																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)GGC>GTC		glycosylphosphatidylinositol anchor attachment							110.0	117.0	115.0					8																	145138899		2123	4234	6357	SO:0001583	missense	8733				attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	g.chr8:145138899G>T	AB006969	CCDS43776.1	8q24.3	2012-12-10	2012-12-10		ENSG00000197858	ENSG00000197858			4446	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	603048	"""anchor attachment protein 1 (Gaa1p, yeast) homolog"", ""GPAA1P anchor attachment protein 1 homolog (yeast)"", ""glycosylphosphatidylinositol anchor attachment protein 1 homolog (yeast)"""			9828142	Standard	NM_003801		Approved	GAA1, hGAA1	uc003zax.3	O43292	OTTHUMG00000165438	ENST00000355091.4:c.572G>T	8.37:g.145138899G>T	ENSP00000347206:p.Gly191Val					GPAA1_uc003zav.1_Missense_Mutation_p.G69V|GPAA1_uc003zaw.1_Missense_Mutation_p.G131V	p.G191V	NM_003801	NP_003792	O43292	GPAA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		5	682	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		191			Lumenal (Potential).		Q9NSS0|Q9UQ31	Missense_Mutation	SNP	ENST00000355091.4	37	c.572G>T	CCDS43776.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535927	0.85812	.	.	ENSG00000197858	ENST00000355091;ENST00000525087;ENST00000361036;ENST00000524418	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.83303	0.5225	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85662	0.1289	9	0.87932	D	0	-22.3376	16.8077	0.85710	0.0:0.0:1.0:0.0	.	191;131	O43292;O43292-2	GPAA1_HUMAN;.	V	191;119;131;177	.	ENSP00000347206:G191V	G	+	2	0	GPAA1	145210887	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.077000	0.76814	2.570000	0.86706	0.561000	0.74099	GGC		PASS	0.562	GPAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384070.1	NM_003801		16	125	16	125	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	712600	712600	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:712600G>T	ENST00000382303.1	+	7	2486	c.1834G>T	c.(1834-1836)Gac>Tac	p.D612Y	KANK1_ENST00000382293.3_Missense_Mutation_p.D454Y|KANK1_ENST00000382297.2_Missense_Mutation_p.D612Y|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	612					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)	p.D612Y(1)|p.D454Y(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GTCTGTGAACGACCTCACACT	0.507																																						uc003zgl.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1834-1836)GAC>TAC		KN motif and ankyrin repeat domains 1 isoform a							168.0	144.0	152.0					9																	712600		2203	4300	6503	SO:0001583	missense	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:712600G>T	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1834G>T	9.37:g.712600G>T	ENSP00000371740:p.Asp612Tyr					KANK1_uc003zgm.2_Missense_Mutation_p.D612Y|KANK1_uc003zgn.1_Missense_Mutation_p.D612Y|KANK1_uc003zgo.1_Missense_Mutation_p.D612Y|KANK1_uc003zgp.1_Missense_Mutation_p.D612Y|KANK1_uc003zgq.2_Missense_Mutation_p.D454Y|KANK1_uc003zgr.1_Missense_Mutation_p.D454Y|KANK1_uc003zgs.1_Missense_Mutation_p.D454Y	p.D612Y	NM_015158	NP_055973	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	7	2483	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	612					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	37	c.1834G>T	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283046	0.40394	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.40225	1.04;1.04;1.08	5.64	5.64	0.86602	.	0.204155	0.34338	N	0.004044	T	0.56934	0.2019	M	0.62723	1.935	0.24571	N	0.993926	D;D	0.71674	0.998;0.994	D;P	0.66847	0.947;0.884	T	0.54186	-0.8331	10	0.54805	T	0.06	-14.353	9.6233	0.39734	0.075:0.1435:0.7815:0.0	.	612;612	Q5W0W1;Q14678	.;KANK1_HUMAN	Y	612;612;612;454	ENSP00000371740:D612Y;ENSP00000371734:D612Y;ENSP00000371730:D454Y	ENSP00000346479:D612Y	D	+	1	0	KANK1	702600	0.001000	0.12720	0.696000	0.30242	0.981000	0.71138	1.298000	0.33412	2.831000	0.97527	0.650000	0.86243	GAC		PASS	0.507	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		30	28	30	28	---	---	---	---
RIC1	57589	broad.mit.edu	37	9	5763761	5763761	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:5763761C>T	ENST00000414202.2	+	19	2925	c.2734C>T	c.(2734-2736)Ctg>Ttg	p.L912L	KIAA1432_ENST00000251879.6_Silent_p.L912L|KIAA1432_ENST00000381532.2_Silent_p.L833L|KIAA1432_ENST00000418622.3_Silent_p.L833L|KIAA1432_ENST00000449720.2_Silent_p.L796L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2												p.L833L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CGAATATGCCCTGTGGAATTA	0.478																																						uc003zji.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2497-2499)CTG>TTG		connexin 43-interacting protein 150 isoform a							116.0	111.0	113.0					9																	5763761		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5763761C>T																												ENST00000414202.2:c.2734C>T	9.37:g.5763761C>T						KIAA1432_uc003zjh.2_Silent_p.L833L|KIAA1432_uc003zjl.3_Silent_p.L796L|KIAA1432_uc003zjj.1_Silent_p.L375L	p.L833L	NM_020829	NP_065880	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	18	2590	+		Acute lymphoblastic leukemia(23;0.154)	912						Silent	SNP	ENST00000414202.2	37	c.2497C>T	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	C	0.294	-0.978283	0.02197	.	.	ENSG00000107036	ENST00000545641	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	T	0.77039	0.4072	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74134	-0.3763	4	.	.	.	-10.6303	20.3081	0.98638	0.0:1.0:0.0:0.0	.	.	.	.	L	803	.	.	P	+	2	0	KIAA1432	5753761	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	5.757000	0.68766	2.795000	0.96236	0.655000	0.94253	CCT		PASS	0.478	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			70	82	70	82	---	---	---	---
NOL6	65083	broad.mit.edu	37	9	33464075	33464075	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:33464075C>T	ENST00000379471.2	-	22	2951	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Missense_Mutation_p.R903H			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	955					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R955H(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		AGAGTTTTTGCGGTCTTGGGG	0.567																																						uc003zsz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2863-2865)CGC>CAC		nucleolar protein family 6 alpha isoform							148.0	131.0	137.0					9																	33464075		2203	4300	6503	SO:0001583	missense	65083				rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	g.chr9:33464075C>T	AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.2864G>A	9.37:g.33464075C>T	ENSP00000368784:p.Arg955His					SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_Missense_Mutation_p.R9H|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Missense_Mutation_p.R952H|NOL6_uc011lob.1_Missense_Mutation_p.R903H|NOL6_uc003ztb.1_Missense_Mutation_p.R955H	p.R955H	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)	22	2965	-			955					Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37	c.2864G>A		.	.	.	.	.	.	.	.	.	.	C	11.60	1.687040	0.29962	.	.	ENSG00000165271	ENST00000379470;ENST00000297990;ENST00000379471;ENST00000541373;ENST00000325914;ENST00000455041	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.65	4.76	0.60689	.	0.144743	0.56097	D	0.000022	T	0.35393	0.0930	L	0.58101	1.795	0.39089	D	0.961056	B;B;B;B	0.25486	0.127;0.044;0.104;0.054	B;B;B;B	0.23018	0.028;0.017;0.023;0.043	T	0.24977	-1.0145	10	0.29301	T	0.29	.	7.4292	0.27118	0.0:0.7211:0.0:0.2789	.	903;952;955;955	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4	.;.;.;NOL6_HUMAN	H	9;955;955;511;955;903	ENSP00000368783:R9H;ENSP00000297990:R955H;ENSP00000368784:R955H;ENSP00000395915:R903H	ENSP00000297990:R955H	R	-	2	0	NOL6	33454075	1.000000	0.71417	0.982000	0.44146	0.019000	0.09904	3.448000	0.52943	1.534000	0.49203	0.655000	0.94253	CGC		PASS	0.567	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2	NM_022917		4	166	4	166	---	---	---	---
TPM2	7169	broad.mit.edu	37	9	35685691	35685691	+	Silent	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:35685691G>C	ENST00000360958.2	-	3	431	c.327C>G	c.(325-327)gcC>gcG	p.A109A	TPM2_ENST00000378292.3_Silent_p.A109A|TPM2_ENST00000329305.2_Silent_p.A109A|TPM2_ENST00000378300.5_Silent_p.A109A	NM_003289.3	NP_003280.2	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	109					muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)	cytosol (GO:0005829)|muscle thin filament tropomyosin (GO:0005862)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)	p.A109A(2)		NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTTCTGCAGGGCTGTAGCCA	0.672																																						uc003zxq.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(325-327)GCC>GCG		tropomyosin 2 (beta) isoform 2							38.0	42.0	40.0					9																	35685691		2203	4300	6503	SO:0001819	synonymous_variant	7169				muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle	g.chr9:35685691G>C		CCDS6586.1, CCDS6587.1	9p13	2014-09-17	2003-12-02		ENSG00000198467	ENSG00000198467		"""Tropomyosins"""	12011	protein-coding gene	gene with protein product	"""nemaline myopathy type 4"""	190990	"""arthrogryposis multiplex congenital, distal, type 1"""	AMCD1		7606936	Standard	NM_003289		Approved	DA1, NEM4	uc003zxq.3	P07951	OTTHUMG00000019878	ENST00000360958.2:c.327C>G	9.37:g.35685691G>C						TPM2_uc003zxr.2_Silent_p.A109A|TPM2_uc003zxs.2_Silent_p.A109A|TPM2_uc010mkz.2_Silent_p.A109A|TPM2_uc011lpa.1_Silent_p.A109A	p.A109A	NM_213674	NP_998839	P07951	TPM2_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		3	566	-	all_epithelial(49;0.121)		109			By similarity.		A6NM85|P06468|Q13894|Q53FM4|Q5TCU4|Q5TCU7|Q9UH67	Silent	SNP	ENST00000360958.2	37	c.327C>G	CCDS6587.1																																																																																				PASS	0.672	TPM2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052376.1	NM_003289		137	67	137	67	---	---	---	---
FRMPD1	22844	broad.mit.edu	37	9	37746351	37746351	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:37746351G>A	ENST00000539465.1	+	16	4915	c.4322G>A	c.(4321-4323)gGg>gAg	p.G1441E	FRMPD1_ENST00000377765.3_Missense_Mutation_p.G1441E|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1441						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.G1441E(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		ACTTCCTGGGGGGTTGGAAAC	0.572																																						uc004aag.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(4321-4323)GGG>GAG		FERM and PDZ domain containing 1							17.0	19.0	18.0					9																	37746351		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37746351G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.4322G>A	9.37:g.37746351G>A	ENSP00000444411:p.Gly1441Glu					FRMPD1_uc004aah.1_Missense_Mutation_p.G1441E	p.G1441E	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	16	4366	+			1441					B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.4322G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442874	0.43326	.	.	ENSG00000070601	ENST00000377765;ENST00000539465	T;T	0.07327	3.2;3.2	5.48	4.53	0.55603	.	0.175925	0.49916	D	0.000139	T	0.14227	0.0344	L	0.43152	1.355	0.80722	D	1	D	0.64830	0.994	P	0.57548	0.823	T	0.00233	-1.1894	10	0.87932	D	0	-24.6308	6.9925	0.24763	0.0906:0.1765:0.7329:0.0	.	1441	Q5SYB0	FRPD1_HUMAN	E	1441	ENSP00000366995:G1441E;ENSP00000444411:G1441E	ENSP00000366995:G1441E	G	+	2	0	FRMPD1	37736351	0.998000	0.40836	0.992000	0.48379	0.980000	0.70556	1.781000	0.38644	2.570000	0.86706	0.655000	0.94253	GGG		PASS	0.572	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		14	27	14	27	---	---	---	---
TMC1	117531	broad.mit.edu	37	9	75407166	75407166	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:75407166G>A	ENST00000297784.5	+	17	2004	c.1464G>A	c.(1462-1464)aaG>aaA	p.K488K	TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Silent_p.K488K|TMC1_ENST00000396237.3_Silent_p.K488K	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	488					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.K488K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATATGATCAAGGCCTACAATG	0.428																																					Pancreas(75;173 1345 14232 34245 43413)	uc004aiz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1462-1464)AAG>AAA		transmembrane channel-like 1							254.0	236.0	242.0					9																	75407166		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75407166G>A	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1464G>A	9.37:g.75407166G>A						TMC1_uc010moz.1_Silent_p.K446K|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Silent_p.K342K|TMC1_uc010mpa.1_Silent_p.K342K	p.K488K	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN			17	2004	+			488			Cytoplasmic (Potential).		A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.1464G>A	CCDS6643.1																																																																																				PASS	0.428	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			151	304	151	304	---	---	---	---
TRPM6	140803	broad.mit.edu	37	9	77418743	77418743	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:77418743C>A	ENST00000360774.1	-	15	1935	c.1698G>T	c.(1696-1698)caG>caT	p.Q566H	TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q561H|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q561H|TRPM6_ENST00000451710.3_Missense_Mutation_p.Q566H|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.Q566H	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	566					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Q566H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCTAATGAACTGGGAGTGCA	0.423																																						uc004ajl.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	8						c.(1696-1698)CAG>CAT		transient receptor potential cation channel,							196.0	191.0	193.0					9																	77418743		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77418743C>A	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.1698G>T	9.37:g.77418743C>A	ENSP00000354006:p.Gln566His					TRPM6_uc004ajk.1_Missense_Mutation_p.Q561H|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_5'Flank	p.Q566H	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN			15	1936	-			566			Cytoplasmic (Potential).		Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.1698G>T	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	6.208	0.406572	0.11754	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75;-0.75	5.37	4.37	0.52481	.	0.305164	0.31020	N	0.008419	T	0.71333	0.3327	N	0.22421	0.69	0.45762	D	0.998658	B;D	0.63880	0.188;0.993	B;D	0.67382	0.084;0.951	T	0.65869	-0.6063	10	0.08599	T	0.76	.	9.8691	0.41164	0.0:0.8297:0.0:0.1703	.	566;561	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	H	566;566;561;561;566;229;229	ENSP00000354006:Q566H;ENSP00000407341:Q566H;ENSP00000396672:Q561H;ENSP00000354962:Q561H;ENSP00000366060:Q566H	ENSP00000309693:Q229H	Q	-	3	2	TRPM6	76608563	0.995000	0.38212	1.000000	0.80357	0.718000	0.41266	0.351000	0.20096	1.102000	0.41551	0.563000	0.77884	CAG		PASS	0.423	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		108	209	108	209	---	---	---	---
TLE1	7088	broad.mit.edu	37	9	84199166	84199166	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:84199166T>C	ENST00000376499.3	-	20	3324	c.2260A>G	c.(2260-2262)Ata>Gta	p.I754V		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	754					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)	p.I754V(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						CCAGTGACTATGTACTTATCA	0.413																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	uc004aly.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2260-2262)ATA>GTA		transducin-like enhancer protein 1							141.0	130.0	133.0					9																	84199166		2203	4300	6503	SO:0001583	missense	7088				negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding	g.chr9:84199166T>C		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.2260A>G	9.37:g.84199166T>C	ENSP00000365682:p.Ile754Val					TLE1_uc004alz.2_Missense_Mutation_p.I764V|TLE1_uc011lsr.1_Missense_Mutation_p.I739V	p.I754V	NM_005077	NP_005068	Q04724	TLE1_HUMAN			20	2701	-			754			WD 6.		A8K495|Q5T3G4|Q969V9	Missense_Mutation	SNP	ENST00000376499.3	37	c.2260A>G	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	t	16.32	3.090577	0.55968	.	.	ENSG00000196781	ENST00000376499	T	0.12255	2.7	5.14	3.99	0.46301	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.089425	0.85682	D	0.000000	T	0.25457	0.0619	L	0.35644	1.08	0.80722	D	1	D;D	0.57571	0.98;0.959	D;D	0.68039	0.955;0.94	T	0.01192	-1.1423	10	0.87932	D	0	-11.4535	12.5683	0.56322	0.0:0.0:0.1389:0.8611	.	739;754	B4DEF9;Q04724	.;TLE1_HUMAN	V	754	ENSP00000365682:I754V	ENSP00000365682:I754V	I	-	1	0	TLE1	83388986	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.800000	0.85949	1.060000	0.40578	0.533000	0.62120	ATA		PASS	0.413	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077		34	95	34	95	---	---	---	---
RASEF	158158	broad.mit.edu	37	9	85615852	85615852	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:85615852C>T	ENST00000376447.3	-	10	1656	c.1396G>A	c.(1396-1398)Ggg>Agg	p.G466R		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	466					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.G466R(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCCTGCACCCCGTGTGACCTC	0.502																																						uc004amo.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|lung(1)|breast(1)	3						c.(1396-1398)GGG>AGG		RAS and EF-hand domain containing							91.0	78.0	83.0					9																	85615852		2203	4300	6503	SO:0001583	missense	158158				protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding	g.chr9:85615852C>T	AK056176	CCDS6662.1	9q21.33	2014-05-09	2004-06-11	2004-06-16	ENSG00000165105	ENSG00000165105		"""EF-hand domain containing"", ""RAB, member RAS oncogene"""	26464	protein-coding gene	gene with protein product		611344	"""RAB45, member RAS oncogene family"""	RAB45		17448446	Standard	NM_152573		Approved	FLJ31614	uc004amo.2	Q8IZ41	OTTHUMG00000020100	ENST00000376447.3:c.1396G>A	9.37:g.85615852C>T	ENSP00000365630:p.Gly466Arg						p.G466R	NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN			10	1657	-			466					A6NC29|Q96N04	Missense_Mutation	SNP	ENST00000376447.3	37	c.1396G>A	CCDS6662.1	.	.	.	.	.	.	.	.	.	.	C	0.671	-0.801775	0.02841	.	.	ENSG00000165105	ENST00000376447	T	0.59906	0.23	5.7	-0.0415	0.13867	.	1.005260	0.07989	N	0.986812	T	0.22742	0.0549	N	0.00707	-1.245	0.09310	N	0.999998	B	0.16603	0.018	B	0.06405	0.002	T	0.15752	-1.0426	10	0.38643	T	0.18	.	5.3097	0.15823	0.2571:0.3983:0.0:0.3446	.	466	Q8IZ41	RASEF_HUMAN	R	466	ENSP00000365630:G466R	ENSP00000365630:G466R	G	-	1	0	RASEF	84805672	0.000000	0.05858	0.001000	0.08648	0.136000	0.21042	0.426000	0.21363	0.042000	0.15717	-0.225000	0.12378	GGG		PASS	0.502	RASEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052825.1	NM_152573		33	76	33	76	---	---	---	---
SPATA31E1	286234	broad.mit.edu	37	9	90501370	90501370	+	Silent	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:90501370T>A	ENST00000325643.5	+	4	2034	c.1968T>A	c.(1966-1968)ccT>ccA	p.P656P		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	656					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.P656P(1)									TGCTACAGCCTGATGGGGAAT	0.622																																						uc004app.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1966-1968)CCT>CCA		chromosome 9 open reading frame 79							32.0	39.0	37.0					9																	90501370		2203	4299	6502	SO:0001819	synonymous_variant	286234					integral to membrane		g.chr9:90501370T>A	AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1968T>A	9.37:g.90501370T>A						C9orf79_uc004apo.1_Silent_p.P468P	p.P656P	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN			4	2003	+			656					B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	ENST00000325643.5	37	c.1968T>A	CCDS6676.1																																																																																				PASS	0.622	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828		21	51	21	51	---	---	---	---
NXNL2	158046	broad.mit.edu	37	9	91150497	91150497	+	Missense_Mutation	SNP	G	G	C	rs377094914		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:91150497G>C	ENST00000375854.3	+	1	482	c.148G>C	c.(148-150)Gac>Cac	p.D50H	NXNL2_ENST00000375855.3_Missense_Mutation_p.D50H|NXNL2_ENST00000487646.2_3'UTR	NM_001161625.1	NP_001155097.1	Q5VZ03	NXNL2_HUMAN	nucleoredoxin-like 2	50	Thioredoxin.				photoreceptor cell maintenance (GO:0045494)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)			p.D50H(2)		lung(3)	3						GCTGCTCTGCGACTTCTATAC	0.697																																						uc011ltj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(148-150)GAC>CAC		nucleoredoxin-like 2 isoform 1							17.0	22.0	20.0					9																	91150497		2191	4283	6474	SO:0001583	missense	158046							g.chr9:91150497G>C	BC022521	CCDS6679.1, CCDS55325.1	9q22.2	2008-02-05	2007-08-16	2007-08-16	ENSG00000130045	ENSG00000130045			30482	protein-coding gene	gene with protein product		615299	"""chromosome 9 open reading frame 121"""	C9orf121		12477932	Standard	NM_001161625		Approved		uc011ltj.2	Q5VZ03	OTTHUMG00000020170	ENST00000375854.3:c.148G>C	9.37:g.91150497G>C	ENSP00000365014:p.Asp50His					NXNL2_uc004aqa.2_Missense_Mutation_p.D50H	p.D50H	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN			1	482	+			50			Thioredoxin.		B1AMD0|Q8TBG6	Missense_Mutation	SNP	ENST00000375854.3	37	c.148G>C	CCDS55325.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.743693	0.89663	.	.	ENSG00000130045	ENST00000375854;ENST00000375855	T;T	0.81247	0.87;-1.47	3.95	3.05	0.35203	Thioredoxin-like fold (2);	0.179172	0.46442	D	0.000283	D	0.88948	0.6576	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.971;0.98	D	0.88926	0.3369	10	0.54805	T	0.06	-9.7064	11.4791	0.50316	0.0889:0.0:0.9111:0.0	.	50;50	Q5VZ03;Q5VZ03-3	NXNL2_HUMAN;.	H	50	ENSP00000365014:D50H;ENSP00000365015:D50H	ENSP00000365014:D50H	D	+	1	0	NXNL2	90340317	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.574000	0.67424	0.875000	0.35847	0.491000	0.48974	GAC		PASS	0.697	NXNL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_145283		2	6	2	6	---	---	---	---
SECISBP2	79048	broad.mit.edu	37	9	91940430	91940430	+	Missense_Mutation	SNP	G	G	T	rs529644965		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:91940430G>T	ENST00000375807.3	+	3	342	c.271G>T	c.(271-273)Gcc>Tcc	p.A91S	SECISBP2_ENST00000339901.4_Intron|SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Missense_Mutation_p.A23S	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	91					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)	p.A91S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						TCATCCATATGCCTATTCTCC	0.398																																						uc004aqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(271-273)GCC>TCC		SECIS binding protein 2							197.0	185.0	189.0					9																	91940430		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91940430G>T	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.271G>T	9.37:g.91940430G>T	ENSP00000364965:p.Ala91Ser					SECISBP2_uc010mqn.1_Missense_Mutation_p.A91S|SECISBP2_uc004aqi.1_Intron|SECISBP2_uc011ltk.1_Missense_Mutation_p.A91S|SECISBP2_uc004aqk.1_Intron|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc011ltl.1_Missense_Mutation_p.A23S	p.A91S	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			3	351	+			91					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.271G>T	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	1.740	-0.491819	0.04322	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000534113	T;T	0.72942	-0.65;-0.7	4.17	-2.93	0.05598	.	0.980712	0.08346	N	0.960039	T	0.38746	0.1052	N	0.08118	0	0.09310	N	1	B;B;B	0.17852	0.01;0.024;0.01	B;B;B	0.12156	0.007;0.007;0.007	T	0.35674	-0.9779	10	0.02654	T	1	-0.7391	4.1844	0.10392	0.3258:0.0:0.1931:0.4811	.	111;91;91	Q59H19;B4DZC7;Q96T21	.;.;SEBP2_HUMAN	S	91;111;23	ENSP00000364965:A91S;ENSP00000436650:A23S	ENSP00000364965:A91S	A	+	1	0	SECISBP2	91130250	0.000000	0.05858	0.000000	0.03702	0.163000	0.22366	-0.004000	0.12878	-0.295000	0.08960	0.462000	0.41574	GCC		PASS	0.398	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		106	235	106	235	---	---	---	---
ZNF189	7743	broad.mit.edu	37	9	104170972	104170972	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:104170972A>G	ENST00000339664.2	+	3	1051	c.922A>G	c.(922-924)Aga>Gga	p.R308G	ZNF189_ENST00000374861.3_Missense_Mutation_p.R294G|ZNF189_ENST00000259395.4_Missense_Mutation_p.R266G	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	308					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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.R308G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGAGCATCAAAGAATTCACAC	0.398																																						uc004bbh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|kidney(1)|central_nervous_system(1)	6						c.(922-924)AGA>GGA		zinc finger protein 189 isoform 1							116.0	120.0	119.0					9																	104170972		2203	4300	6503	SO:0001583	missense	7743				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:104170972A>G	AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.922A>G	9.37:g.104170972A>G	ENSP00000342019:p.Arg308Gly					ZNF189_uc004bbg.1_Missense_Mutation_p.R266G|ZNF189_uc004bbi.1_Missense_Mutation_p.R294G|ZNF189_uc011lvk.1_Missense_Mutation_p.R293G	p.R308G	NM_003452	NP_003443	O75820	ZN189_HUMAN			3	1198	+		Acute lymphoblastic leukemia(62;0.0559)	308			C2H2-type 6.		O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	c.922A>G	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	A	15.66	2.899806	0.52227	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.24723	1.84;1.84;1.84	4.79	3.64	0.41730	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000055	T	0.44180	0.1281	L	0.60845	1.875	0.43160	D	0.994946	D;D;D	0.89917	1.0;1.0;0.969	D;D;P	0.91635	0.999;0.997;0.847	T	0.39482	-0.9612	10	0.72032	D	0.01	.	10.402	0.44235	0.8357:0.1643:0.0:0.0	.	293;294;308	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	G	294;308;266	ENSP00000363995:R294G;ENSP00000342019:R308G;ENSP00000259395:R266G	ENSP00000259395:R266G	R	+	1	2	ZNF189	103210793	0.004000	0.15560	1.000000	0.80357	0.999000	0.98932	0.393000	0.20817	1.127000	0.42034	0.533000	0.62120	AGA		PASS	0.398	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452		76	182	76	182	---	---	---	---
SLC44A1	23446	broad.mit.edu	37	9	108128711	108128711	+	Splice_Site	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:108128711G>T	ENST00000374720.3	+	12	1741		c.e12+1		SLC44A1_ENST00000343170.7_Splice_Site|SLC44A1_ENST00000374723.1_Splice_Site|SLC44A1_ENST00000374724.1_Splice_Site	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1						choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)	p.?(1)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TTTAAATCAGGtaaaatattt	0.303																																						uc004bcn.2																			1	Unknown(1)		lung(1)	breast(3)|ovary(1)	4						c.e12+1		CDW92 antigen	Choline(DB00122)						34.0	34.0	34.0					9																	108128711		2201	4298	6499	SO:0001630	splice_region_variant	23446					integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity	g.chr9:108128711G>T	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.1494+1G>T	9.37:g.108128711G>T						SLC44A1_uc010mtk.1_Splice_Site_p.Q498_splice|SLC44A1_uc004bco.1_Splice_Site_p.Q290_splice	p.Q498_splice	NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN			12	1715	+								A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Splice_Site	SNP	ENST00000374720.3	37	c.1494_splice	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.665744	0.88251	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724;ENST00000343170	.	.	.	5.49	5.49	0.81192	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7405	0.96228	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC44A1	107168532	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.001000	0.93568	2.736000	0.93811	0.650000	0.86243	.		PASS	0.303	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053500.1	NM_080546	Intron	19	48	19	48	---	---	---	---
SUSD1	64420	broad.mit.edu	37	9	114825260	114825260	+	Missense_Mutation	SNP	G	G	T	rs141503818	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:114825260G>T	ENST00000374270.3	-	13	1979	c.1807C>A	c.(1807-1809)Cgc>Agc	p.R603S	SUSD1_ENST00000374263.3_Missense_Mutation_p.R603S|SUSD1_ENST00000374264.2_Missense_Mutation_p.R603S	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	603						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.R603S(1)	SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGTCTGAGGCGTGGTAGAGGT	0.478																																						uc004bfu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1807-1809)CGC>AGC		sushi domain containing 1 precursor							119.0	127.0	124.0					9																	114825260		2203	4300	6503	SO:0001583	missense	64420					integral to membrane	calcium ion binding	g.chr9:114825260G>T	AL137432	CCDS6783.1, CCDS65105.1, CCDS65106.1	9q31.3-q33.1	2008-02-05			ENSG00000106868	ENSG00000106868			25413	protein-coding gene	gene with protein product						12975309	Standard	NM_022486		Approved	DKFZP761E1824	uc004bfu.3	Q6UWL2	OTTHUMG00000020499	ENST00000374270.3:c.1807C>A	9.37:g.114825260G>T	ENSP00000363388:p.Arg603Ser					SUSD1_uc010mui.2_Missense_Mutation_p.R603S|SUSD1_uc010muj.2_Missense_Mutation_p.R603S	p.R603S	NM_022486	NP_071931	Q6UWL2	SUSD1_HUMAN			13	1848	-			603			Extracellular (Potential).		A1A4C5|A8KA03|Q5T8V6|Q5T8V7|Q6P9G7|Q8WU83|Q96DM9|Q9H6V2|Q9NTA7	Missense_Mutation	SNP	ENST00000374270.3	37	c.1807C>A	CCDS6783.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.394|8.394	0.840429|0.840429	0.16891|0.16891	.|.	.|.	ENSG00000106868|ENSG00000106868	ENST00000374270;ENST00000374263;ENST00000374264|ENST00000355396	T;T;T|.	0.53206|.	1.74;0.63;1.74|.	5.07|5.07	4.16|4.16	0.48862|0.48862	.|.	0.553031|.	0.15290|.	N|.	0.270224|.	T|T	0.46560|0.46560	0.1399|0.1399	M|M	0.65975|0.65975	2.015|2.015	0.26909|0.26909	N|N	0.966945|0.966945	B;B;B|.	0.31193|.	0.185;0.312;0.116|.	B;B;B|.	0.32583|.	0.148;0.065;0.07|.	T|T	0.41197|0.41197	-0.9522|-0.9522	10|5	0.41790|.	T|.	0.15|.	-3.4621|-3.4621	6.4549|6.4549	0.21924|0.21924	0.0972:0.0:0.7208:0.182|0.0972:0.0:0.7208:0.182	.|.	603;603;603|.	F8WAQ1;Q6UWL2-2;Q6UWL2|.	.;.;SUSD1_HUMAN|.	S|K	603|586	ENSP00000363388:R603S;ENSP00000363381:R603S;ENSP00000363382:R603S|.	ENSP00000363381:R603S|.	R|T	-|-	1|2	0|0	SUSD1|SUSD1	113865081|113865081	0.014000|0.014000	0.17966|0.17966	0.563000|0.563000	0.28383|0.28383	0.194000|0.194000	0.23727|0.23727	0.684000|0.684000	0.25364|0.25364	1.234000|1.234000	0.43709|0.43709	0.655000|0.655000	0.94253|0.94253	CGC|ACG		PASS	0.478	SUSD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053668.3	NM_022486		62	146	62	146	---	---	---	---
BSPRY	54836	broad.mit.edu	37	9	116116564	116116564	+	Silent	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:116116564T>A	ENST00000374183.4	+	2	285	c.246T>A	c.(244-246)gcT>gcA	p.A82A	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	82					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.A82A(1)		breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TACAGAGTGCTGCCATCACCA	0.517																																						uc004bhg.3																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(244-246)GCT>GCA		B-box and SPRY domain containing							116.0	124.0	122.0					9																	116116564		2101	4234	6335	SO:0001819	synonymous_variant	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116116564T>A	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.246T>A	9.37:g.116116564T>A						BSPRY_uc010muw.2_Silent_p.A82A	p.A82A	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN			2	294	+			82					B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Silent	SNP	ENST00000374183.4	37	c.246T>A	CCDS43868.1																																																																																				PASS	0.517	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		4	95	4	95	---	---	---	---
WDR38	401551	broad.mit.edu	37	9	127619793	127619793	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:127619793G>A	ENST00000373574.1	+	9	885	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	277					hematopoietic progenitor cell differentiation (GO:0002244)			p.V277M(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGTCCTGGATGTGGCCCACAC	0.572																																						uc004box.2																			1	Substitution - Missense(1)		lung(1)		0						c.(829-831)GTG>ATG		WD repeat domain 38							86.0	94.0	91.0					9																	127619793		2009	4184	6193	SO:0001583	missense	401551							g.chr9:127619793G>A		CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"""WD repeat domain containing"""	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.829G>A	9.37:g.127619793G>A	ENSP00000362677:p.Val277Met					WDR38_uc011lzn.1_Missense_Mutation_p.V267M|WDR38_uc011lzo.1_Missense_Mutation_p.V278M|WDR38_uc011lzp.1_Missense_Mutation_p.V229M	p.V277M	NM_001045476	NP_001038941	Q5JTN6	WDR38_HUMAN			9	885	+			277			WD 7.		A0PK24	Missense_Mutation	SNP	ENST00000373574.1	37	c.829G>A	CCDS43876.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.275799	0.40294	.	.	ENSG00000136918	ENST00000373574	D	0.81659	-1.52	5.01	4.11	0.48088	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.108239	0.38837	N	0.001555	T	0.78679	0.4321	L	0.37800	1.135	0.30986	N	0.721924	P;P;P;P	0.45634	0.863;0.535;0.745;0.863	P;B;B;P	0.50791	0.65;0.319;0.319;0.65	T	0.77879	-0.2423	10	0.33940	T	0.23	.	12.974	0.58527	0.0:0.0:0.8372:0.1628	.	277;278;267;277	B9EK65;B7ZW23;B7ZW24;Q5JTN6	.;.;.;WDR38_HUMAN	M	277	ENSP00000362677:V277M	ENSP00000362677:V277M	V	+	1	0	WDR38	126659614	0.999000	0.42202	1.000000	0.80357	0.951000	0.60555	1.559000	0.36320	1.476000	0.48215	-0.152000	0.13540	GTG		PASS	0.572	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054048.1	NM_001045476		36	84	36	84	---	---	---	---
SWI5	375757	broad.mit.edu	37	9	131038466	131038466	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:131038466A>T	ENST00000320188.5	+	1	42	c.42A>T	c.(40-42)aaA>aaT	p.K14N	SWI5_ENST00000495313.1_Intron|SWI5_ENST00000419867.2_5'Flank|GOLGA2_ENST00000609374.1_5'Flank|GOLGA2_ENST00000490628.1_5'Flank|SWI5_ENST00000418976.1_5'Flank|SWI5_ENST00000608796.1_5'Flank|GOLGA2_ENST00000421699.2_5'Flank	NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	14					cellular response to ionizing radiation (GO:0071479)|double-strand break repair via homologous recombination (GO:0000724)	nucleus (GO:0005634)|Swi5-Sfr1 complex (GO:0032798)		p.K14N(1)									GTCACAACAAAAGCTGCGCAC	0.632																																						uc004bup.2																			1	Substitution - Missense(1)		lung(1)		0						c.(40-42)AAA>AAT		hypothetical protein LOC375757							34.0	41.0	39.0					9																	131038466		1985	4107	6092	SO:0001583	missense	375757				double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding	g.chr9:131038466A>T	BC029911	CCDS43883.1	9q34.13	2011-07-29	2011-07-29	2011-07-29	ENSG00000175854	ENSG00000175854			31412	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 119"""	C9orf119		21252223, 20976249	Standard	NM_001040011		Approved	bA395P17.9	uc004bup.3	Q1ZZU3	OTTHUMG00000020729	ENST00000320188.5:c.42A>T	9.37:g.131038466A>T	ENSP00000316609:p.Lys14Asn					GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.K14N	p.K14N	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN			1	42	+			14					Q5SYX7|Q5SYX8|Q8N2W6	Missense_Mutation	SNP	ENST00000320188.5	37	c.42A>T	CCDS43883.1	.	.	.	.	.	.	.	.	.	.	A	9.309	1.055139	0.19907	.	.	ENSG00000175854	ENST00000320188	.	.	.	4.13	-3.35	0.04928	.	.	.	.	.	T	0.16257	0.0391	N	0.14661	0.345	0.09310	N	1	B	0.30361	0.277	B	0.18263	0.021	T	0.17379	-1.0371	8	0.87932	D	0	.	5.2955	0.15751	0.3334:0.3759:0.2907:0.0	.	14	Q1ZZU3	SWI5_HUMAN	N	14	.	ENSP00000316609:K14N	K	+	3	2	SWI5	130078287	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.188000	0.03064	-0.345000	0.08325	-0.323000	0.08544	AAA		PASS	0.632	SWI5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001040011		31	72	31	72	---	---	---	---
AK8	158067	broad.mit.edu	37	9	135601245	135601245	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:135601245C>A	ENST00000298545.3	-	13	1791	c.1270G>T	c.(1270-1272)Gat>Tat	p.D424Y	AK8_ENST00000477396.1_5'UTR	NM_152572.2	NP_689785.1	Q96MA6	KAD8_HUMAN	adenylate kinase 8	424	Adenylate kinase 2.|LID 2. {ECO:0000250}.				nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)	p.D424Y(2)		NS(1)|kidney(2)|large_intestine(4)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(2)	23						TCTTCAGCATCCTTTGGGTTC	0.552																																						uc004cbu.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1270-1272)GAT>TAT		putative adenylate kinase-like protein C9orf98							102.0	79.0	87.0					9																	135601245		2203	4300	6503	SO:0001583	missense	158067					cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	g.chr9:135601245C>A	AK093446	CCDS6954.1	9q34.13	2013-04-29	2010-12-07	2010-12-07	ENSG00000165695	ENSG00000165695	2.7.4.3	"""Adenylate kinases"""	26526	protein-coding gene	gene with protein product		615365	"""chromosome 9 open reading frame 98"""	C9orf98		21080915	Standard	NM_152572		Approved	FLJ32704	uc004cbu.1	Q96MA6	OTTHUMG00000021009	ENST00000298545.3:c.1270G>T	9.37:g.135601245C>A	ENSP00000298545:p.Asp424Tyr					C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.D220Y	p.D424Y	NM_152572	NP_689785	Q96MA6	KAD8_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016)	13	1826	-			424			Adenylate kinase.		A8K821|Q8N9W9	Missense_Mutation	SNP	ENST00000298545.3	37	c.1270G>T	CCDS6954.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899980	0.33535	.	.	ENSG00000165695	ENST00000298545	D	0.87571	-2.27	5.08	4.18	0.49190	.	0.332602	0.30003	N	0.010652	D	0.93390	0.7892	M	0.90759	3.145	0.31130	N	0.707836	D	0.76494	0.999	D	0.71656	0.974	D	0.91874	0.5510	10	0.66056	D	0.02	-21.8968	9.3869	0.38349	0.0:0.9002:0.0:0.0998	.	424	Q96MA6	KAD8_HUMAN	Y	424	ENSP00000298545:D424Y	ENSP00000298545:D424Y	D	-	1	0	AK8	134591066	0.988000	0.35896	0.288000	0.24862	0.252000	0.25951	3.535000	0.53575	1.124000	0.41980	0.514000	0.50259	GAT		PASS	0.552	AK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055413.1	NM_152572		6	13	6	13	---	---	---	---
SEC16A	9919	broad.mit.edu	37	9	139369100	139369100	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr9:139369100T>C	ENST00000371706.3	-	1	2467	c.2434A>G	c.(2434-2436)Act>Gct	p.T812A	SEC16A_ENST00000313050.7_Missense_Mutation_p.T990A|SEC16A_ENST00000290037.6_Missense_Mutation_p.T812A|SEC16A_ENST00000431893.2_Missense_Mutation_p.T812A			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	812					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.T990A(2)		breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCTCCGTAAGTGTCTTCCTGA	0.502																																						uc004chx.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2968-2970)ACT>GCT		SEC16 homolog A							34.0	35.0	35.0					9																	139369100		1940	4139	6079	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139369100T>C	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.2434A>G	9.37:g.139369100T>C	ENSP00000360771:p.Thr812Ala					SEC16A_uc004chv.3_Intron|SEC16A_uc004chw.2_Missense_Mutation_p.T990A|SEC16A_uc010nbn.2_Missense_Mutation_p.T990A|SEC16A_uc010nbo.1_Missense_Mutation_p.T990A	p.T990A	NM_014866	NP_055681	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	3	3277	-		Myeloproliferative disorder(178;0.0511)	812					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000371706.3	37	c.2968A>G		.	.	.	.	.	.	.	.	.	.	T	4.096	0.015839	0.07959	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.35	-5.25	0.02781	.	0.959651	0.08729	N	0.902417	T	0.06096	0.0158	N	0.05124	-0.11	0.09310	N	0.999999	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.08055	0.001;0.003;0.003	T	0.36578	-0.9742	10	0.02654	T	1	-0.0959	4.3795	0.11286	0.1091:0.4304:0.1119:0.3486	.	990;812;812	F1T0I1;O15027-5;O15027-4	.;.;.	A	990;812;812;812	ENSP00000325827:T990A;ENSP00000360771:T812A;ENSP00000290037:T812A;ENSP00000387583:T812A	ENSP00000290037:T812A	T	-	1	0	SEC16A	138488921	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.462000	0.06704	-1.208000	0.02634	-0.316000	0.08728	ACT		PASS	0.502	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	XM_088459		20	22	20	22	---	---	---	---
MCM10	55388	broad.mit.edu	37	10	13222487	13222487	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:13222487C>A	ENST00000484800.2	+	7	916	c.813C>A	c.(811-813)ggC>ggA	p.G271G	MCM10_ENST00000378714.3_Silent_p.G270G|MCM10_ENST00000378694.1_Silent_p.G270G			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	271	OB-fold domain. {ECO:0000250}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.G271G(1)		central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AAATGACCGGCCGAAAACTGA	0.413																																						uc001ima.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(811-813)GGC>GGA		minichromosome maintenance complex component 10							105.0	103.0	103.0					10																	13222487		2203	4300	6503	SO:0001819	synonymous_variant	55388				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding	g.chr10:13222487C>A	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.813C>A	10.37:g.13222487C>A						MCM10_uc001imb.2_Silent_p.G270G|MCM10_uc001imc.2_Silent_p.G270G	p.G271G	NM_182751	NP_877428	Q7L590	MCM10_HUMAN			7	914	+			271					A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Silent	SNP	ENST00000484800.2	37	c.813C>A	CCDS7096.1																																																																																				PASS	0.413	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751		38	45	38	45	---	---	---	---
ITGA8	8516	broad.mit.edu	37	10	15686082	15686082	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:15686082C>A	ENST00000378076.3	-	13	1699	c.1346G>T	c.(1345-1347)gGa>gTa	p.G449V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	449					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)	p.G449V(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAAGCCAAATCCGGAAGGGAC	0.438																																						uc001ioc.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)	6						c.(1345-1347)GGA>GTA		integrin, alpha 8 precursor							102.0	91.0	95.0					10																	15686082		2203	4300	6503	SO:0001583	missense	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15686082C>A	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.1346G>T	10.37:g.15686082C>A	ENSP00000367316:p.Gly449Val					ITGA8_uc010qcb.1_Missense_Mutation_p.G434V	p.G449V	NM_003638	NP_003629	P53708	ITA8_HUMAN			13	1346	-			449			Extracellular (Potential).|FG-GAP 7.		B0YJ31|Q5VX94	Missense_Mutation	SNP	ENST00000378076.3	37	c.1346G>T	CCDS31155.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823586	0.71143	.	.	ENSG00000077943	ENST00000378076;ENST00000538044	T	0.55052	0.54	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.75191	0.3816	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.68880	-0.5292	10	0.18710	T	0.47	.	20.5407	0.99260	0.0:1.0:0.0:0.0	.	434;449	F5H818;P53708	.;ITA8_HUMAN	V	449;434	ENSP00000367316:G449V	ENSP00000367316:G449V	G	-	2	0	ITGA8	15726088	1.000000	0.71417	0.758000	0.31321	0.806000	0.45545	5.862000	0.69560	2.865000	0.98341	0.655000	0.94253	GGA		PASS	0.438	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		30	50	30	50	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	16967596	16967596	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:16967596C>A	ENST00000377833.4	-	42	6514	c.6449G>T	c.(6448-6450)gGg>gTg	p.G2150V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2150	CUB 15. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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.G2150V(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)	CAAGTAATCCCCCTGGTTGCA	0.423																																						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.(6448-6450)GGG>GTG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						52.0	53.0	53.0					10																	16967596		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.chr10:16967596C>A	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.6449G>T	10.37:g.16967596C>A	ENSP00000367064:p.Gly2150Val						p.G2150V	NM_001081	NP_001072	O60494	CUBN_HUMAN			42	6501	-			2150			CUB 15.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.6449G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435050	0.83885	.	.	ENSG00000107611	ENST00000377833	T	0.17370	2.28	5.65	5.65	0.86999	CUB (5);	0.138202	0.33382	N	0.004972	T	0.42921	0.1224	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.16808	-1.0390	10	0.66056	D	0.02	.	19.7198	0.96137	0.0:1.0:0.0:0.0	.	2150	O60494	CUBN_HUMAN	V	2150	ENSP00000367064:G2150V	ENSP00000367064:G2150V	G	-	2	0	CUBN	17007602	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.443000	0.80521	2.668000	0.90789	0.655000	0.94253	GGG		PASS	0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		18	39	18	39	---	---	---	---
VIM	7431	broad.mit.edu	37	10	17277176	17277177	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:17277176_17277177CC>AA	ENST00000224237.5	+	6	1162_1163	c.1017_1018CC>AA	c.(1015-1020)tcCCtg>tcAAtg	p.L340M	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Missense_Mutation_p.L340M			P08670	VIME_HUMAN	vimentin	340	Coil 2.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)	p.L340M(2)|p.S339S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAATGAGTCCCTGGAACGCCA	0.455																																						uc001iou.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1015-1017)TCC>TCA|c.(1018-1020)CTG>ATG		vimentin																																				SO:0001583	missense	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17277176C>A|g.chr10:17277177C>A	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	Exception_encountered	10.37:g.17277176_17277177delinsAA	ENSP00000224237:p.Leu340Met					VIM_uc001iov.1_Silent_p.S339S|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.S339S|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.S297S|VIM_uc001ipc.1_Silent_p.S339S|VIM_uc001iov.1_Missense_Mutation_p.L340M|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Missense_Mutation_p.L340M|VIM_uc001ioy.1_Intron|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Missense_Mutation_p.L298M|VIM_uc001ipc.1_Missense_Mutation_p.L340M	p.S339S|p.L340M	NM_003380	NP_003371	P08670	VIME_HUMAN			7	1430|1431	+			339|340	S -> C (in Ref. 17; AAA61281).|		Rod.|Coil 2.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent|Missense_Mutation	SNP	ENST00000224237.5	37	c.1017C>A|c.1018C>A	CCDS7120.1																																																																																				PASS	0.455	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1	NM_003380		16	37|35	16	35	---	---	---	---
PIP4K2A	5305	broad.mit.edu	37	10	22830743	22830743	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:22830743C>A	ENST00000376573.4	-	8	1254	c.1026G>T	c.(1024-1026)aaG>aaT	p.K342N	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.K202N|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.K283N	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	342	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				megakaryocyte development (GO:0035855)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)	p.K342N(1)		endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTTCATGGCACTTAATTCCAT	0.507																																						uc001irl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1024-1026)AAG>AAT		phosphatidylinositol-5-phosphate 4-kinase, type							66.0	64.0	65.0					10																	22830743		2203	4300	6503	SO:0001583	missense	5305						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding	g.chr10:22830743C>A	S78798	CCDS7141.1	10p12.2	2007-08-21	2007-08-14	2007-08-14	ENSG00000150867	ENSG00000150867			8997	protein-coding gene	gene with protein product		603140	"""phosphatidylinositol-4-phosphate 5-kinase, type II, alpha"""	PIP5K2A		7852364, 9367159	Standard	NM_005028		Approved	PIP5KIIA, PIP5KIIalpha	uc001irl.4	P48426	OTTHUMG00000017810	ENST00000376573.4:c.1026G>T	10.37:g.22830743C>A	ENSP00000365757:p.Lys342Asn					PIP4K2A_uc010qcu.1_Missense_Mutation_p.K202N	p.K342N	NM_005028	NP_005019	P48426	PI42A_HUMAN			8	1274	-			342			PIPK.		B0YJ66|B4DGX2|D3DRV1|P53807|Q5VUX3	Missense_Mutation	SNP	ENST00000376573.4	37	c.1026G>T	CCDS7141.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.884429	0.72410	.	.	ENSG00000150867	ENST00000376573;ENST00000323883;ENST00000545335	T;T;T	0.29397	1.57;1.57;1.57	5.86	-0.274	0.12910	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	M	0.66378	2.025	0.80722	D	1	P;P	0.44195	0.578;0.828	P;P	0.57468	0.648;0.821	T	0.27971	-1.0058	10	0.49607	T	0.09	-33.3871	9.6017	0.39607	0.0:0.3805:0.0:0.6195	.	202;342	B4DH09;P48426	.;PI42A_HUMAN	N	342;202;283	ENSP00000365757:K342N;ENSP00000326294:K202N;ENSP00000442098:K283N	ENSP00000326294:K202N	K	-	3	2	PIP4K2A	22870749	1.000000	0.71417	0.998000	0.56505	0.903000	0.53119	0.626000	0.24492	-0.065000	0.13021	0.655000	0.94253	AAG		PASS	0.507	PIP4K2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047193.1	NM_005028		40	74	40	74	---	---	---	---
ARMC3	219681	broad.mit.edu	37	10	23248058	23248058	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:23248058G>C	ENST00000298032.5	+	5	436	c.352G>C	c.(352-354)Gct>Cct	p.A118P	ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000409983.3_Missense_Mutation_p.A118P|ARMC3_ENST00000376528.4_5'UTR|ARMC3_ENST00000409049.3_Missense_Mutation_p.A118P	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	118						extracellular vesicular exosome (GO:0070062)		p.A118P(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCCCAGCTCGCTCCAGAAGG	0.289																																						uc001irm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(352-354)GCT>CCT		armadillo repeat containing 3							105.0	107.0	106.0					10																	23248058		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23248058G>C	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.352G>C	10.37:g.23248058G>C	ENSP00000298032:p.Ala118Pro					ARMC3_uc010qcv.1_Missense_Mutation_p.A118P|ARMC3_uc010qcw.1_5'UTR|ARMC3_uc001irn.1_Missense_Mutation_p.A30P	p.A118P	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			5	435	+			118			ARM 3.		A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.352G>C	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	9.939	1.216882	0.22373	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000447081	T;T;T;T	0.52057	0.76;0.76;1.39;0.68	5.15	1.54	0.23209	Armadillo-like helical (1);Armadillo-type fold (1);	0.749935	0.13340	N	0.395202	T	0.45196	0.1330	L	0.40543	1.245	0.35141	D	0.768892	P;P;D	0.57571	0.956;0.579;0.98	P;B;P	0.53062	0.717;0.307;0.623	T	0.52064	-0.8625	10	0.49607	T	0.09	-22.5985	4.9156	0.13844	0.219:0.0:0.5755:0.2056	.	118;30;118	Q5W041-4;C9JC46;Q5W041	.;.;ARMC3_HUMAN	P	118;118;118;118;30	ENSP00000298032:A118P;ENSP00000386943:A118P;ENSP00000387288:A118P;ENSP00000396629:A30P	ENSP00000298032:A118P	A	+	1	0	ARMC3	23288064	0.003000	0.15002	0.194000	0.23346	0.080000	0.17528	1.281000	0.33214	0.059000	0.16252	0.650000	0.86243	GCT		PASS	0.289	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		23	173	23	173	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37421233	37421233	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:37421233G>A	ENST00000602533.1	+	4	507	c.408G>A	c.(406-408)ctG>ctA	p.L136L	RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000361713.1_Silent_p.L136L|ANKRD30A_ENST00000374660.1_Silent_p.L136L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	192					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L136L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AATTTTTGCTGATAAAAAATG	0.289																																						uc001iza.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(406-408)CTG>CTA		ankyrin repeat domain 30A							64.0	61.0	62.0					10																	37421233		1796	4058	5854	SO:0001819	synonymous_variant	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37421233G>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.408G>A	10.37:g.37421233G>A							p.L136L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			4	507	+			192			ANK 4.		Q5W025	Silent	SNP	ENST00000602533.1	37	c.408G>A																																																																																					PASS	0.289	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		9	122	9	122	---	---	---	---
TMEM72	643236	broad.mit.edu	37	10	45429098	45429098	+	5'UTR	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:45429098T>A	ENST00000544540.1	+	0	353				TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72							integral component of membrane (GO:0016021)		p.S75T(2)		breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						TCAACCAGGGTCCCTGGCAGA	0.612																																						uc001jbn.2																			2	Substitution - Missense(2)		lung(2)		0						c.(223-225)TCC>ACC		transmembrane protein 72							59.0	61.0	60.0					10																	45429098		1568	3582	5150	SO:0001623	5_prime_UTR_variant	643236					integral to membrane		g.chr10:45429098T>A	AB235418	CCDS41504.1	10q11.21	2008-10-24	2008-08-21	2008-08-21	ENSG00000187783	ENSG00000187783			31658	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 127"""	C10orf127			Standard	NM_001123376		Approved	bA285G1.3, KSP37	uc001jbn.2	A0PK05	OTTHUMG00000018067	ENST00000544540.1:c.-132T>A	10.37:g.45429098T>A						uc001jbk.1_Intron|uc001jbl.2_Intron|TMEM72_uc009xmm.1_5'UTR	p.S75T	NM_001123376	NP_001116848	A0PK05	TMM72_HUMAN			4	420	+			75					A1L181|Q5T740	Missense_Mutation	SNP	ENST00000544540.1	37	c.223T>A		.	.	.	.	.	.	.	.	.	.	T	12.47	1.948570	0.34377	.	.	ENSG00000187783	ENST00000389583	.	.	.	5.58	5.58	0.84498	.	0.075847	0.56097	D	0.000025	T	0.66356	0.2781	L	0.58669	1.825	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.64567	-0.6377	9	0.02654	T	1	-13.2903	12.4349	0.55595	0.0:0.0:0.0:1.0	.	75	A0PK05	TMM72_HUMAN	T	75	.	ENSP00000374234:S75T	S	+	1	0	TMEM72	44749104	0.998000	0.40836	0.985000	0.45067	0.412000	0.31113	5.361000	0.66092	2.250000	0.74265	0.528000	0.53228	TCC		PASS	0.612	TMEM72-201	KNOWN	basic	protein_coding	protein_coding		NM_001123376		8	58	8	58	---	---	---	---
DRGX	644168	broad.mit.edu	37	10	50574253	50574253	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:50574253G>A	ENST00000374139.2	-	6	710	c.700C>T	c.(700-702)Ccc>Tcc	p.P234S	DRGX_ENST00000434016.1_Missense_Mutation_p.P239S			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	234					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.P239S(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						ACAGGGCCGGGGCTGCTGCTG	0.652																																						uc010qgq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(715-717)CCC>TCC		dorsal root ganglia homeobox							51.0	63.0	59.0					10																	50574253		2105	4198	6303	SO:0001583	missense	644168				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:50574253G>A		CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.700C>T	10.37:g.50574253G>A	ENSP00000363254:p.Pro234Ser						p.P239S	NM_001080520	NP_001073989	A6NNA5	DRGX_HUMAN			6	715	-			239						Missense_Mutation	SNP	ENST00000374139.2	37	c.715C>T		.	.	.	.	.	.	.	.	.	.	G	13.49	2.252161	0.39797	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.91124	-2.79;-2.75	5.54	4.62	0.57501	.	0.836707	0.10764	N	0.636839	D	0.83631	0.5296	N	0.14661	0.345	0.33303	D	0.565097	B	0.25667	0.131	B	0.22386	0.039	T	0.81745	-0.0792	10	0.49607	T	0.09	.	13.3706	0.60711	0.0:0.0:0.7136:0.2864	.	239	C9JW76	.	S	234;239	ENSP00000363254:P234S;ENSP00000401653:P239S	ENSP00000363254:P234S	P	-	1	0	DRGX	50244259	1.000000	0.71417	0.967000	0.41034	0.592000	0.36648	5.569000	0.67391	1.289000	0.44618	0.655000	0.94253	CCC		PASS	0.652	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970		12	25	12	25	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55582895	55582896	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:55582895_55582896CC>AA	ENST00000320301.6	-	33	4984_4985	c.4590_4591GG>TT	c.(4588-4593)aaGGaa>aaTTaa	p.1530_1531KE>N*	PCDH15_ENST00000395432.2_Nonsense_Mutation_p.1490_1491KE>N*|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.1532_1533KE>N*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.1507_1508KE>N*|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.1527_1528KE>N*|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Nonsense_Mutation_p.1461_1462KE>N*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1530					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.E1531*(1)|p.K1530N(1)|p.K1530_E1531>N*(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)				CTTATGTTTTCCTTATAAAGGG	0.366										HNSCC(58;0.16)																												uc001jju.1																			3	Substitution - Nonsense(1)|Substitution - Missense(1)|Complex - compound substitution(1)		lung(3)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4591-4593)GAA>TAA|c.(4588-4590)AAG>AAT		protocadherin 15 isoform CD1-4 precursor																																				SO:0001587	stop_gained	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.chr10:55582895C>A|g.chr10:55582896C>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.4590_4591delinsAA	10.37:g.55582895_55582896delinsAA	ENSP00000322604:p.K1530_E1531delinsN*	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_Nonsense_Mutation_p.E1528*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.E1491*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.E1462*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.E1538*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.E1533*|PCDH15_uc010qia.1_Nonsense_Mutation_p.E1511*|PCDH15_uc010qib.1_Nonsense_Mutation_p.E1508*|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_Missense_Mutation_p.K1527N|PCDH15_uc010qhw.1_Missense_Mutation_p.K1490N|PCDH15_uc010qhx.1_Missense_Mutation_p.K1461N|PCDH15_uc010qhy.1_Missense_Mutation_p.K1537N|PCDH15_uc010qhz.1_Missense_Mutation_p.K1532N|PCDH15_uc010qia.1_Missense_Mutation_p.K1510N|PCDH15_uc010qib.1_Missense_Mutation_p.K1507N	p.E1531*|p.K1530N	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			33	4986|4985	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1531|1530			Cytoplasmic (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000320301.6	37	c.4591G>T|c.4590G>T	CCDS7248.1																																																																																				PASS	0.366	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		44|42	94|97	42	94	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55782699	55782699	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:55782699G>T	ENST00000320301.6	-	19	2873	c.2479C>A	c.(2479-2481)Ctt>Att	p.L827I	PCDH15_ENST00000373955.1_Missense_Mutation_p.L827I|PCDH15_ENST00000395432.2_Missense_Mutation_p.L790I|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.L827I|PCDH15_ENST00000395433.1_Missense_Mutation_p.L805I|PCDH15_ENST00000414778.1_Missense_Mutation_p.L832I|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.L834I|PCDH15_ENST00000395430.1_Missense_Mutation_p.L827I|PCDH15_ENST00000395438.1_Missense_Mutation_p.L827I|PCDH15_ENST00000395445.1_Missense_Mutation_p.L834I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.L438I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.L756I	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	827	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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.L832I(2)|p.L827I(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)				TCTTCAACAAGGACAGTGTAT	0.413										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2479-2481)CTT>ATT		protocadherin 15 isoform CD1-4 precursor							172.0	155.0	161.0					10																	55782699		2203	4300	6503	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.chr10:55782699G>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	ENST00000320301.6:c.2479C>A	10.37:g.55782699G>T	ENSP00000322604:p.Leu827Ile	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.L832I|PCDH15_uc010qhr.1_Missense_Mutation_p.L827I|PCDH15_uc010qhs.1_Missense_Mutation_p.L839I|PCDH15_uc010qht.1_Missense_Mutation_p.L834I|PCDH15_uc010qhu.1_Missense_Mutation_p.L827I|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.L827I|PCDH15_uc010qhw.1_Missense_Mutation_p.L790I|PCDH15_uc010qhx.1_Missense_Mutation_p.L756I|PCDH15_uc010qhy.1_Missense_Mutation_p.L832I|PCDH15_uc010qhz.1_Missense_Mutation_p.L827I|PCDH15_uc010qia.1_Missense_Mutation_p.L805I|PCDH15_uc010qib.1_Missense_Mutation_p.L805I|PCDH15_uc001jjw.2_Missense_Mutation_p.L827I	p.L827I	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			19	2874	-		Melanoma(3;0.117)|Lung SC(717;0.238)	827			Extracellular (Potential).|Cadherin 8.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.2479C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	5.744	0.321758	0.10845	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7;0.7	5.52	2.64	0.31445	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.23492	0.0568	N	0.05158	-0.105	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.29341	0.198;0.06;0.06;0.017;0.238;0.242;0.198;0.006;0.131;0.131;0.014;0.0;0.005;0.099	B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.35899	0.213;0.1;0.1;0.026;0.1;0.1;0.213;0.013;0.091;0.091;0.013;0.003;0.012;0.1	T	0.20174	-1.0283	9	0.23891	T	0.37	.	1.027	0.01529	0.1539:0.4038:0.1629:0.2794	.	805;827;827;832;756;790;827;827;834;834;827;832;827;827	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	I	834;832;827;827;438;834;790;827;805;827;827;832;756;827	ENSP00000363076:L834I;ENSP00000410304:L832I;ENSP00000378826:L827I;ENSP00000386693:L438I;ENSP00000378832:L834I;ENSP00000378820:L790I;ENSP00000354950:L827I;ENSP00000378821:L805I;ENSP00000322604:L827I;ENSP00000378818:L827I;ENSP00000412628:L756I;ENSP00000363066:L827I	ENSP00000322604:L827I	L	-	1	0	PCDH15	55452705	0.000000	0.05858	0.687000	0.30102	0.360000	0.29518	0.995000	0.29706	0.809000	0.34255	-0.353000	0.07706	CTT		PASS	0.413	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		19	129	19	129	---	---	---	---
FAM13C	220965	broad.mit.edu	37	10	61022354	61022354	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:61022354G>C	ENST00000373868.2	-	10	1163	c.1076C>G	c.(1075-1077)cCt>cGt	p.P359R	FAM13C_ENST00000468840.2_Missense_Mutation_p.P276R|FAM13C_ENST00000442566.3_Missense_Mutation_p.P380R|FAM13C_ENST00000277705.6_Missense_Mutation_p.P380R|FAM13C_ENST00000435852.2_Missense_Mutation_p.P359R|FAM13C_ENST00000422313.2_Missense_Mutation_p.P359R|FAM13C_ENST00000373867.3_Missense_Mutation_p.P276R|FAM13C_ENST00000419214.2_Intron	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	359								p.P359R(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGGTTTCTAGGTGGACCTTT	0.493																																						uc001jkn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1075-1077)CCT>CGT		hypothetical protein LOC220965 isoform 1							89.0	89.0	89.0					10																	61022354		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61022354G>C	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1076C>G	10.37:g.61022354G>C	ENSP00000362975:p.Pro359Arg					FAM13C_uc001jko.2_Intron|FAM13C_uc010qid.1_Missense_Mutation_p.P276R|FAM13C_uc010qie.1_Missense_Mutation_p.P276R|FAM13C_uc010qif.1_Missense_Mutation_p.P381R|FAM13C_uc001jkp.2_Missense_Mutation_p.P276R	p.P359R	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			11	1210	-			359					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1076C>G	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	0.358	-0.941067	0.02322	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94;-0.94;-0.94	5.72	1.65	0.23941	.	0.704485	0.13552	N	0.379439	T	0.45776	0.1359	N	0.15975	0.35	0.09310	N	1	B;B;B;B	0.11235	0.003;0.003;0.004;0.001	B;B;B;B	0.11329	0.004;0.006;0.006;0.003	T	0.33828	-0.9853	10	0.02654	T	1	-0.0153	1.2001	0.01883	0.162:0.2361:0.3334:0.2684	.	359;276;359;359	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31	.;.;.;FA13C_HUMAN	R	276;359;380;380;276;359;359	ENSP00000362974:P276R;ENSP00000362975:P359R;ENSP00000395661:P380R;ENSP00000277705:P380R;ENSP00000423896:P276R;ENSP00000392302:P359R;ENSP00000400241:P359R	ENSP00000277705:P380R	P	-	2	0	FAM13C	60692360	0.287000	0.24315	0.110000	0.21437	0.648000	0.38561	0.848000	0.27710	0.306000	0.22856	0.563000	0.77884	CCT		PASS	0.493	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2			36	89	36	89	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61830138	61830138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:61830138G>A	ENST00000280772.2	-	37	10692	c.10501C>T	c.(10501-10503)Cag>Tag	p.Q3501*	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3501					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.Q3501*(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTGAAGAACTGGGCCCCTGAC	0.448																																						uc001jky.2																			1	Substitution - Nonsense(1)		lung(1)	skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2)	19						c.(10501-10503)CAG>TAG		ankyrin 3 isoform 1							82.0	82.0	82.0					10																	61830138		2203	4300	6503	SO:0001587	stop_gained	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830138G>A	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10501C>T	10.37:g.61830138G>A	ENSP00000280772:p.Gln3501*					ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron	p.Q3501*	NM_020987	NP_066267	Q12955	ANK3_HUMAN			37	10693	-			3501					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Nonsense_Mutation	SNP	ENST00000280772.2	37	c.10501C>T	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	52	19.425439	0.99919	.	.	ENSG00000151150	ENST00000280772	.	.	.	5.77	5.77	0.91146	.	0.000000	0.40064	N	0.001198	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	19.9837	0.97340	0.0:0.0:1.0:0.0	.	.	.	.	X	3501	.	ENSP00000280772:Q3501X	Q	-	1	0	ANK3	61500144	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.235000	0.78143	2.723000	0.93209	0.655000	0.94253	CAG		PASS	0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		46	86	46	86	---	---	---	---
TMEM26	219623	broad.mit.edu	37	10	63195965	63195965	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:63195965G>A	ENST00000399298.3	-	2	601	c.233C>T	c.(232-234)cCa>cTa	p.P78L	TMEM26_ENST00000399293.1_Missense_Mutation_p.P78L	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	78						integral component of membrane (GO:0016021)		p.P78L(1)		kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CCATAATGATGGAACGATGCT	0.333																																						uc001jlo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(232-234)CCA>CTA		transmembrane protein 26							69.0	68.0	68.0					10																	63195965		1823	4075	5898	SO:0001583	missense	219623					integral to membrane		g.chr10:63195965G>A	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.233C>T	10.37:g.63195965G>A	ENSP00000382237:p.Pro78Leu					TMEM26_uc010qij.1_RNA|TMEM26_uc001jlq.2_RNA	p.P78L	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN			2	602	-	Prostate(12;0.0112)		78			Helical; (Potential).		Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.233C>T	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861604	0.91433	.	.	ENSG00000196932	ENST00000399298;ENST00000399293	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.84079	0.5393	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86398	0.1740	9	0.87932	D	0	-25.2154	17.6876	0.88260	0.0:0.0:1.0:0.0	.	78	Q6ZUK4	TMM26_HUMAN	L	78	.	ENSP00000382232:P78L	P	-	2	0	TMEM26	62865971	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.150000	0.89634	2.590000	0.87494	0.655000	0.94253	CCA		PASS	0.333	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		11	38	11	38	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	67726488	67726488	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:67726488C>A	ENST00000433211.2	-	17	2456	c.2282G>T	c.(2281-2283)tGt>tTt	p.C761F	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.C761F	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.C761F(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GTCCTGTTTACAAGATGGATC	0.383																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(2281-2283)TGT>TTT		catenin, alpha 3							76.0	73.0	74.0					10																	67726488		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:67726488C>A	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2282G>T	10.37:g.67726488C>A	ENSP00000389714:p.Cys761Phe					CTNNA3_uc001jmw.2_Missense_Mutation_p.C761F	p.C761F	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			17	2405	-			761						Missense_Mutation	SNP	ENST00000433211.2	37	c.2282G>T	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	12.86	2.064222	0.36373	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.36520	1.25;1.25;1.25	5.41	4.5	0.54988	.	0.000000	0.64402	D	0.000004	T	0.34250	0.0891	L	0.54323	1.7	0.80722	D	1	B	0.12013	0.005	B	0.12156	0.007	T	0.10200	-1.0640	10	0.30854	T	0.27	-5.1384	13.6885	0.62531	0.1555:0.8445:0.0:0.0	.	761	Q9UI47	CTNA3_HUMAN	F	761;761;100	ENSP00000389714:C761F;ENSP00000362849:C761F;ENSP00000362840:C100F	ENSP00000362840:C100F	C	-	2	0	CTNNA3	67396494	1.000000	0.71417	0.996000	0.52242	0.246000	0.25737	5.959000	0.70339	1.407000	0.46875	0.650000	0.86243	TGT		PASS	0.383	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		33	121	33	121	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69881321	69881321	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:69881321C>T	ENST00000358913.5	+	2	614	c.126C>T	c.(124-126)tgC>tgT	p.C42C	MYPN_ENST00000540630.1_Silent_p.C42C|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000373675.3_Silent_p.C42C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	42	Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.C42C(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CCAACCCTTGCCATTTCGGCA	0.517																																						uc001jnm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(124-126)TGC>TGT		myopalladin							56.0	53.0	54.0					10																	69881321		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69881321C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.126C>T	10.37:g.69881321C>T						MYPN_uc001jnl.1_Silent_p.C42C|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Silent_p.C42C|MYPN_uc001jnp.1_Silent_p.C42C|MYPN_uc009xps.2_Silent_p.C42C|MYPN_uc009xpt.2_Silent_p.C42C|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA	p.C42C	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			3	311	+			42			Interaction with CARP.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.126C>T	CCDS7275.1																																																																																				PASS	0.517	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		93	90	93	90	---	---	---	---
MYPN	84665	broad.mit.edu	37	10	69961674	69961674	+	Silent	SNP	C	C	T	rs139820597	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:69961674C>T	ENST00000358913.5	+	18	4070	c.3582C>T	c.(3580-3582)cgC>cgT	p.R1194R	MYPN_ENST00000540630.1_Silent_p.R1194R|MYPN_ENST00000354393.2_Silent_p.R919R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1194	Ig-like 5.|Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.R1194R(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TGGAGTGCCGCGTGATAGGCA	0.547																																						uc001jnm.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)	5						c.(3580-3582)CGC>CGT		myopalladin		C		0,4406		0,0,2203	138.0	123.0	128.0		3582	-7.6	0.7	10	dbSNP_134	128	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MYPN	NM_032578.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		1194/1321	69961674	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69961674C>T	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3582C>T	10.37:g.69961674C>T						MYPN_uc001jnn.3_Silent_p.R919R|MYPN_uc001jno.3_Silent_p.R1194R|MYPN_uc009xpt.2_Silent_p.R1194R|MYPN_uc010qit.1_Silent_p.R900R|MYPN_uc010qiu.1_RNA	p.R1194R	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			19	3767	+			1194			Interaction with ACTN.|Ig-like 5.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.3582C>T	CCDS7275.1																																																																																				PASS	0.547	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		68	287	68	287	---	---	---	---
KIAA1279	26128	broad.mit.edu	37	10	70775952	70775952	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:70775952G>T	ENST00000361983.4	+	7	1748	c.1646G>T	c.(1645-1647)cGa>cTa	p.R549L		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	549					cell differentiation (GO:0030154)|mitochondrial transport (GO:0006839)|nervous system development (GO:0007399)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)	kinesin binding (GO:0019894)	p.R549L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						GCTAAGTTTCGAGTTGCCCGT	0.413																																						uc001joy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1645-1647)CGA>CTA		KIF1 binding protein							107.0	100.0	103.0					10																	70775952		2203	4300	6503	SO:0001583	missense	26128				cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding	g.chr10:70775952G>T	BC012180	CCDS7284.1	10q22.1	2008-02-05			ENSG00000198954	ENSG00000198954			23419	protein-coding gene	gene with protein product		609367					Standard	NM_015634		Approved	DKFZP586B0923, TTC20	uc001joy.3	Q96EK5	OTTHUMG00000018363	ENST00000361983.4:c.1646G>T	10.37:g.70775952G>T	ENSP00000354848:p.Arg549Leu						p.R549L	NM_015634	NP_056449	Q96EK5	KBP_HUMAN			7	1742	+			549					A8K5M8|Q9BR89|Q9ULE1|Q9Y428	Missense_Mutation	SNP	ENST00000361983.4	37	c.1646G>T	CCDS7284.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814966	0.32053	.	.	ENSG00000198954	ENST00000361983	T	0.46063	0.88	5.48	3.32	0.38043	.	0.192345	0.46758	D	0.000273	T	0.23370	0.0565	L	0.34521	1.04	0.54753	D	0.99998	P	0.42871	0.792	B	0.37833	0.259	T	0.05435	-1.0885	10	0.11794	T	0.64	-21.6966	4.6713	0.12691	0.1738:0.2408:0.5854:0.0	.	549	Q96EK5	KBP_HUMAN	L	549	ENSP00000354848:R549L	ENSP00000354848:R549L	R	+	2	0	KIAA1279	70445958	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.149000	0.71795	1.263000	0.44181	0.655000	0.94253	CGA		PASS	0.413	KIAA1279-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048370.1	NM_015634		58	213	58	213	---	---	---	---
NEUROG3	50674	broad.mit.edu	37	10	71332486	71332486	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:71332486G>C	ENST00000242462.4	-	2	343	c.314C>G	c.(313-315)gCc>gGc	p.A105G		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	105	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|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 core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)	p.A105G(1)		endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						ACCGCGCAGGGCGTCCAGTGC	0.617																																						uc001jpp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)GCC>GGC		neurogenin 3							100.0	67.0	79.0					10																	71332486		2203	4300	6503	SO:0001583	missense	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332486G>C	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.314C>G	10.37:g.71332486G>C	ENSP00000242462:p.Ala105Gly						p.A105G	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN			2	472	-			105			Helix-loop-helix motif.		Q5VVI0|Q6DJX6|Q9BY24	Missense_Mutation	SNP	ENST00000242462.4	37	c.314C>G	CCDS31212.1	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479792	0.63849	.	.	ENSG00000122859	ENST00000242462	D	0.97976	-4.64	4.53	4.53	0.55603	Helix-loop-helix DNA-binding (5);	0.000000	0.40728	N	0.001029	D	0.94722	0.8297	L	0.28192	0.835	0.42479	D	0.992854	B	0.30146	0.27	B	0.33339	0.162	D	0.93559	0.6893	10	0.28530	T	0.3	-16.1754	15.9925	0.80217	0.0:0.0:1.0:0.0	.	105	Q9Y4Z2	NGN3_HUMAN	G	105	ENSP00000242462:A105G	ENSP00000242462:A105G	A	-	2	0	NEUROG3	71002492	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	3.131000	0.50515	2.307000	0.77673	0.591000	0.81541	GCC		PASS	0.617	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		21	66	21	66	---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93572875	93572875	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:93572875G>A	ENST00000371627.4	+	2	714	c.335G>A	c.(334-336)cGa>cAa	p.R112Q		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	112					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.R112Q(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CTCCTTTTGCGACATGGTGCA	0.428																																						uc001khp.2																			1	Substitution - Missense(1)		lung(1)	kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(334-336)CGA>CAA		tankyrase, TRF1-interacting ankyrin-related							165.0	140.0	149.0					10																	93572875		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93572875G>A	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.335G>A	10.37:g.93572875G>A	ENSP00000360689:p.Arg112Gln						p.R112Q	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			2	632	+		Colorectal(252;0.162)	112			ANK 2.		B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.335G>A	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668020	0.47677	.	.	ENSG00000107854	ENST00000371627	T	0.63744	-0.06	5.83	2.69	0.31865	Ankyrin repeat-containing domain (4);	0.641843	0.13341	N	0.395146	T	0.36386	0.0965	N	0.05050	-0.12	0.32954	D	0.520182	B	0.19706	0.038	B	0.23419	0.046	T	0.36212	-0.9757	10	0.34782	T	0.22	.	4.3274	0.11046	0.2169:0.0:0.6035:0.1796	.	112	Q9H2K2	TNKS2_HUMAN	Q	112	ENSP00000360689:R112Q	ENSP00000360689:R112Q	R	+	2	0	TNKS2	93562855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.299000	0.51826	0.615000	0.30124	0.655000	0.94253	CGA		PASS	0.428	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		4	95	4	95	---	---	---	---
OPALIN	93377	broad.mit.edu	37	10	98109555	98109555	+	Missense_Mutation	SNP	G	G	T	rs368645607	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:98109555G>T	ENST00000371172.3	-	4	506	c.101C>A	c.(100-102)gCg>gAg	p.A34E	OPALIN_ENST00000393871.1_Missense_Mutation_p.A11E|OPALIN_ENST00000393870.2_Missense_Mutation_p.A23E|OPALIN_ENST00000419479.1_Missense_Mutation_p.A24E|OPALIN_ENST00000536387.1_Missense_Mutation_p.A24E	NM_001284326.1|NM_001284327.1|NM_033207.3	NP_001271255.1|NP_001271256.1|NP_149984.1	Q96PE5	OPALI_HUMAN	oligodendrocytic myelin paranodal and inner loop protein	34						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A24E(1)|p.A34E(1)		breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TGGTATGCCCGCCGCTAATCC	0.478																																						uc001kmj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(100-102)GCG>GAG		transmembrane protein 10 isoform a							28.0	31.0	30.0					10																	98109555		2203	4300	6503	SO:0001583	missense	93377					Golgi apparatus|integral to membrane|plasma membrane		g.chr10:98109555G>T	AF367761	CCDS7448.1, CCDS41556.1, CCDS44466.1, CCDS60602.1, CCDS73172.1, CCDS73173.1	10q23-q24	2010-11-23	2008-05-01	2008-05-01	ENSG00000197430	ENSG00000197430			20707	protein-coding gene	gene with protein product			"""transmembrane protein 10"""	TMEM10		11814680, 17442045	Standard	NM_001284324		Approved	TMP10, HTMP10	uc001kmj.3	Q96PE5	OTTHUMG00000018831	ENST00000371172.3:c.101C>A	10.37:g.98109555G>T	ENSP00000360214:p.Ala34Glu					OPALIN_uc010qor.1_Missense_Mutation_p.A24E|OPALIN_uc001kmi.2_Missense_Mutation_p.A24E|OPALIN_uc001kmk.2_Missense_Mutation_p.A11E|OPALIN_uc010qos.1_RNA	p.A34E	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN			4	540	-			34			Helical; (Potential).		A8MX69|A8MYG4|B4DK96|B4DKH0|Q5W102	Missense_Mutation	SNP	ENST00000371172.3	37	c.101C>A	CCDS7448.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924321	0.34002	.	.	ENSG00000197430	ENST00000371172;ENST00000393871;ENST00000419479;ENST00000393870;ENST00000536387	.	.	.	5.35	3.46	0.39613	.	0.230517	0.30930	N	0.008582	T	0.46927	0.1418	L	0.34521	1.04	0.09310	N	0.999996	D;D;D	0.69078	0.997;0.997;0.997	D;D;D	0.65987	0.94;0.94;0.94	T	0.25433	-1.0132	9	0.87932	D	0	-16.6883	7.6667	0.28434	0.0866:0.1634:0.75:0.0	.	11;34;24	A8MYG4;Q96PE5;B4DK96	.;OPALI_HUMAN;.	E	34;11;24;23;24	.	ENSP00000360214:A34E	A	-	2	0	OPALIN	98099545	0.604000	0.26932	0.057000	0.19452	0.001000	0.01503	1.779000	0.38624	0.916000	0.36871	-0.122000	0.15005	GCG		PASS	0.478	OPALIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049606.1	NM_033207		20	8	20	8	---	---	---	---
PAX2	5076	broad.mit.edu	37	10	102568959	102568959	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:102568959C>A	ENST00000428433.1	+	8	1504	c.954C>A	c.(952-954)aaC>aaA	p.N318K	PAX2_ENST00000370296.2_Missense_Mutation_p.N318K|PAX2_ENST00000361791.3_Missense_Mutation_p.N295K|PAX2_ENST00000556085.1_Missense_Mutation_p.N294K|PAX2_ENST00000355243.3_Missense_Mutation_p.N295K	NM_003987.3|NM_003990.3	NP_003978|NP_003981.2	Q02962	PAX2_HUMAN	paired box 2	318					aging (GO:0007568)|axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye development (GO:0043010)|cell fate determination (GO:0001709)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucose stimulus (GO:0071333)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cochlea development (GO:0090102)|cochlea morphogenesis (GO:0090103)|glial cell differentiation (GO:0010001)|inner ear morphogenesis (GO:0042472)|mesenchymal to epithelial transition (GO:0060231)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesodermal cell fate specification (GO:0007501)|mesonephric duct development (GO:0072177)|mesonephric tubule formation (GO:0072172)|mesonephros development (GO:0001823)|metanephric collecting duct development (GO:0072205)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric nephron tubule formation (GO:0072289)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytolysis (GO:0045918)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of programmed cell death (GO:0043069)|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)|nephric duct formation (GO:0072179)|neural tube closure (GO:0001843)|optic chiasma development (GO:0061360)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|optic nerve development (GO:0021554)|optic nerve morphogenesis (GO:0021631)|optic nerve structural organization (GO:0021633)|pancreas development (GO:0031016)|paramesonephric duct development (GO:0061205)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of optic nerve formation (GO:2000597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|protein kinase B signaling (GO:0043491)|reactive oxygen species metabolic process (GO:0072593)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of metanephros size (GO:0035566)|response to nutrient levels (GO:0031667)|retinal pigment epithelium development (GO:0003406)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|ureter development (GO:0072189)|ureter maturation (GO:0035799)|ureter morphogenesis (GO:0072197)|urogenital system development (GO:0001655)|vestibulocochlear nerve formation (GO:0021650)|visual perception (GO:0007601)	centriolar satellite (GO:0034451)|lysosome (GO:0005764)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|superoxide-generating NADPH oxidase activity (GO:0016175)|transcription regulatory region DNA binding (GO:0044212)	p.N295K(1)|p.N318K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGGGCAGCAACGTGTCAGGCA	0.607																																						uc001krk.3																			2	Substitution - Missense(2)		lung(2)		0						c.(952-954)AAC>AAA		paired box protein 2 isoform e							102.0	86.0	91.0					10																	102568959		2203	4300	6503	SO:0001583	missense	5076				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity	g.chr10:102568959C>A		CCDS7499.1, CCDS41561.1	10q24.31	2011-06-20	2007-07-12		ENSG00000075891	ENSG00000075891		"""Paired boxes"", ""Homeoboxes / PRD class"""	8616	protein-coding gene	gene with protein product		167409	"""paired box gene 2"""			8431641, 7981748	Standard	NM_003990		Approved		uc001krk.4	Q02962	OTTHUMG00000018913	ENST00000428433.1:c.954C>A	10.37:g.102568959C>A	ENSP00000396259:p.Asn318Lys					PAX2_uc001krl.3_Missense_Mutation_p.N295K|PAX2_uc001krm.3_Missense_Mutation_p.N318K|PAX2_uc001kro.3_Missense_Mutation_p.N295K|PAX2_uc001krn.3_Missense_Mutation_p.N295K|PAX2_uc010qps.1_Missense_Mutation_p.N294K|PAX2_uc001krp.1_Missense_Mutation_p.N291K	p.N318K	NM_003990	NP_003981	Q02962	PAX2_HUMAN		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)	8	1504	+		Colorectal(252;0.234)	318					Q15105|Q15110|Q15837|Q5SZP2|Q5SZP3	Missense_Mutation	SNP	ENST00000428433.1	37	c.954C>A	CCDS53569.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.797640	0.31777	.	.	ENSG00000075891	ENST00000370294;ENST00000370296;ENST00000428433;ENST00000361791;ENST00000355243;ENST00000556085;ENST00000554172	T;T;T;T;T;D	0.97906	1.6;1.6;1.6;1.6;1.6;-4.6	5.06	-1.51	0.08664	.	0.262366	0.37955	N	0.001865	D	0.94291	0.8166	L	0.49126	1.545	0.41296	D	0.987018	B;B;B;P;P;P;P	0.46142	0.415;0.382;0.415;0.692;0.476;0.873;0.873	B;B;B;B;B;B;B	0.38327	0.185;0.168;0.13;0.09;0.255;0.271;0.271	D	0.89742	0.3934	10	0.72032	D	0.01	.	10.2107	0.43138	0.0:0.4081:0.0:0.5919	.	294;318;295;291;318;295;291	G3V5U4;Q02962-2;Q02962-3;Q6YFJ8;Q02962;Q02962-4;G3V5S4	.;.;.;.;PAX2_HUMAN;.;.	K	210;318;318;295;295;294;291	ENSP00000359319:N318K;ENSP00000396259:N318K;ENSP00000355069:N295K;ENSP00000347385:N295K;ENSP00000452527:N294K;ENSP00000452489:N291K	ENSP00000347385:N295K	N	+	3	2	PAX2	102558949	0.934000	0.31675	0.996000	0.52242	0.878000	0.50629	0.064000	0.14437	-0.213000	0.10094	-1.149000	0.01842	AAC		PASS	0.607	PAX2-202	KNOWN	basic|CCDS	protein_coding	protein_coding				33	61	33	61	---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112360876	112360876	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:112360876G>T	ENST00000361804.4	+	23	2758	c.2632G>T	c.(2632-2634)Gca>Tca	p.A878S		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	878					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.A878S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGACACTATGGCACGATCAGA	0.353																																						uc001kze.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2632-2634)GCA>TCA		structural maintenance of chromosomes 3							118.0	133.0	128.0					10																	112360876		2203	4300	6503	SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112360876G>T	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	ENST00000361804.4:c.2632G>T	10.37:g.112360876G>T	ENSP00000354720:p.Ala878Ser						p.A878S	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	23	2758	+		Breast(234;0.0848)|Lung NSC(174;0.238)	878			Potential.		A8K156|O60464|Q5T482	Missense_Mutation	SNP	ENST00000361804.4	37	c.2632G>T	CCDS31285.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005330	0.35415	.	.	ENSG00000108055	ENST00000361804	T	0.76709	-1.04	5.32	5.32	0.75619	RecF/RecN/SMC (1);	0.047853	0.85682	D	0.000000	T	0.57007	0.2024	N	0.02830	-0.485	0.80722	D	1	B	0.24092	0.097	B	0.24974	0.057	T	0.57225	-0.7848	10	0.10111	T	0.7	.	19.0115	0.92875	0.0:0.0:1.0:0.0	.	878	Q9UQE7	SMC3_HUMAN	S	878	ENSP00000354720:A878S	ENSP00000354720:A878S	A	+	1	0	SMC3	112350866	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.486000	0.81215	2.472000	0.83506	0.585000	0.79938	GCA		PASS	0.353	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		65	88	65	88	---	---	---	---
WDR11	55717	broad.mit.edu	37	10	122659586	122659586	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:122659586C>A	ENST00000263461.6	+	20	2807	c.2561C>A	c.(2560-2562)gCc>gAc	p.A854D	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.A854D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCCTCTCTTGCCTTGAAAGCC	0.363																																						uc010qtf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2560-2562)GCC>GAC		bromodomain and WD repeat domain containing 2							178.0	169.0	172.0					10																	122659586		2203	4300	6503	SO:0001583	missense	55717					integral to membrane		g.chr10:122659586C>A	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.2561C>A	10.37:g.122659586C>A	ENSP00000263461:p.Ala854Asp					WDR11_uc010qte.1_Missense_Mutation_p.A456D|WDR11_uc001lfd.1_Missense_Mutation_p.A372D|WDR11_uc009xzn.2_Missense_Mutation_p.A145D	p.A854D	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			20	2799	+			854					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000263461.6	37	c.2561C>A	CCDS7619.1	.	.	.	.	.	.	.	.	.	.	C	2.365	-0.345648	0.05208	.	.	ENSG00000120008	ENST00000263461	D	0.91124	-2.79	5.75	3.89	0.44902	.	0.099924	0.64402	D	0.000001	T	0.80444	0.4624	N	0.19112	0.55	0.42581	D	0.993214	B;B;P;B	0.41848	0.18;0.079;0.763;0.309	B;B;B;B	0.36504	0.064;0.064;0.226;0.058	T	0.76211	-0.3042	10	0.34782	T	0.22	-9.036	8.0589	0.30621	0.0:0.7316:0.1313:0.137	.	854;854;145;383	Q9BZH6;B2RCJ6;Q9NWV7;Q659C9	WDR11_HUMAN;.;.;.	D	854	ENSP00000263461:A854D	ENSP00000263461:A854D	A	+	2	0	WDR11	122649576	1.000000	0.71417	0.201000	0.23476	0.004000	0.04260	2.085000	0.41634	0.777000	0.33496	-0.187000	0.12897	GCC		PASS	0.363	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			5	127	5	127	---	---	---	---
C10orf90	118611	broad.mit.edu	37	10	128114630	128114630	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr10:128114630T>A	ENST00000284694.7	-	8	2111	c.1991A>T	c.(1990-1992)aAg>aTg	p.K664M	C10orf90_ENST00000356858.3_Missense_Mutation_p.K617M|C10orf90_ENST00000454341.1_Missense_Mutation_p.K567M|C10orf90_ENST00000544758.1_Missense_Mutation_p.K761M|C10orf90_ENST00000480379.1_Missense_Mutation_p.K68M	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	664	ALMS motif. {ECO:0000250}.|Poly-Lys.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.K664M(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTCTTTTTTCTTTTTAACTTC	0.448																																						uc001ljq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1990-1992)AAG>ATG		hypothetical protein LOC118611							120.0	116.0	118.0					10																	128114630		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128114630T>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1991A>T	10.37:g.128114630T>A	ENSP00000284694:p.Lys664Met					C10orf90_uc001ljp.2_Missense_Mutation_p.K520M|C10orf90_uc010qum.1_Missense_Mutation_p.K761M|C10orf90_uc001ljo.2_RNA	p.K664M	NM_001004298	NP_001004298	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	8	2112	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	664					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1991A>T	CCDS31310.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.7|21.7	4.190907|4.190907	0.78789|0.78789	.|.	.|.	ENSG00000154493|ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758|ENST00000424927	T;T;T|.	0.23950|.	1.88;1.95;1.9|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.000000|.	0.43579|.	D|.	0.000551|.	T|.	0.65544|.	0.2701|.	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.81914|.	0.995;0.995;0.995|.	T|.	0.65014|.	-0.6271|.	10|.	0.87932|.	D|.	0|.	-23.2104|-23.2104	12.8925|12.8925	0.58080|0.58080	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	761;664;567|.	F5GZL2;Q96M02;Q96M02-2|.	.;CJ090_HUMAN;.|.	M|X	617;664;567;761|207	ENSP00000284694:K664M;ENSP00000398786:K567M;ENSP00000444369:K761M|.	ENSP00000284694:K664M|.	K|R	-|-	2|1	0|2	C10orf90|C10orf90	128104620|128104620	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.993000|0.993000	0.82548|0.82548	2.834000|2.834000	0.48167|0.48167	2.038000|2.038000	0.60285|0.60285	0.533000|0.533000	0.62120|0.62120	AAG|AGA		PASS	0.448	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		66	55	66	55	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1085941	1085941	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:1085941G>A	ENST00000441003.2	+	22	2808	c.2781G>A	c.(2779-2781)acG>acA	p.T927T	MUC2_ENST00000359061.5_Silent_p.T927T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	927	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.T927T(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGCAGAGGACGGAGCTGAAGT	0.652																																						uc001lsx.1																			2	Substitution - coding silent(2)		lung(2)	lung(1)|breast(1)	2						c.(2779-2781)ACG>ACA		mucin 2 precursor	Pranlukast(DB01411)						49.0	56.0	54.0					11																	1085941		2122	4215	6337	SO:0001819	synonymous_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1085941G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.2781G>A	11.37:g.1085941G>A							p.T927T	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	22	2808	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	927			VWFD 3.		Q14878	Silent	SNP	ENST00000441003.2	37	c.2781G>A																																																																																					PASS	0.652	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		14	30	14	30	---	---	---	---
MUC5B	727897	broad.mit.edu	37	11	1264913	1264913	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:1264913C>A	ENST00000529681.1	+	31	6861	c.6803C>A	c.(6802-6804)cCa>cAa	p.P2268Q	MUC5B_ENST00000447027.1_Missense_Mutation_p.P2271Q|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2268	7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2271Q(1)|p.P2268Q(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCCTTCTCCAGGGACGACC	0.682																																						uc009ycr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(8716-8718)CCA>CAA		SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming;							126.0	156.0	146.0					11																	1264913		2151	4229	6380	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1264913C>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.6803C>A	11.37:g.1264913C>A	ENSP00000436812:p.Pro2268Gln					MUC5B_uc001ltb.2_Missense_Mutation_p.P2271Q	p.P2906Q	NM_017511	NP_059981	Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	48	8843	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2268			7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.8717C>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	c	7.977	0.750295	0.15778	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.20463	2.07;2.24	1.91	-3.83	0.04269	.	.	.	.	.	T	0.15825	0.0381	L	0.58101	1.795	0.09310	N	1	P;P	0.49961	0.93;0.93	B;B	0.41299	0.353;0.353	T	0.04678	-1.0934	9	0.87932	D	0	.	1.2481	0.01977	0.1439:0.3929:0.2156:0.2476	.	2906;2271	A7Y9J9;E9PBJ0	.;.	Q	2268;2271;2269;2283	ENSP00000436812:P2268Q;ENSP00000415793:P2271Q	ENSP00000343037:P2269Q	P	+	2	0	MUC5B	1221489	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-2.984000	0.00661	-1.444000	0.01950	0.305000	0.20034	CCA		PASS	0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		32	140	32	140	---	---	---	---
HBE1	3046	broad.mit.edu	37	11	5289722	5289722	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:5289722C>A	ENST00000380237.1	-	5	765	c.421G>T	c.(421-423)Gcc>Tcc	p.A141S	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.A141S|HBG2_ENST00000380252.1_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	141					blood coagulation (GO:0007596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein heterooligomerization (GO:0051291)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.A141S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCAGGGCAATGGCGACA	0.557																																						uc001mal.1																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)GCC>TCC		epsilon globin							139.0	119.0	126.0					11																	5289722		2201	4298	6499	SO:0001583	missense	3046				blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr11:5289722C>A	BC015537	CCDS7756.1	11p15.5	2012-10-02			ENSG00000213931	ENSG00000213931			4830	protein-coding gene	gene with protein product		142100				2649166	Standard	NM_005330		Approved	HBE	uc001mal.1	P02100	OTTHUMG00000066675	ENST00000380237.1:c.421G>T	11.37:g.5289722C>A	ENSP00000369586:p.Ala141Ser					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.A141S	p.A141S	NM_005330	NP_005321	P02100	HBE_HUMAN		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	3	674	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	141					Q6FH44	Missense_Mutation	SNP	ENST00000380237.1	37	c.421G>T	CCDS7756.1	.	.	.	.	.	.	.	.	.	.	C	18.76	3.692201	0.68271	.	.	ENSG00000213931	ENST00000380237;ENST00000292896	D;D	0.94537	-3.45;-3.45	6.06	6.06	0.98353	Globin-like (1);Globin, structural domain (1);	0.150069	0.43110	U	0.000604	D	0.96935	0.8999	M	0.88310	2.945	0.58432	D	0.999999	B	0.25169	0.119	B	0.43018	0.405	D	0.95442	0.8526	10	0.87932	D	0	-14.8279	18.1147	0.89549	0.0:1.0:0.0:0.0	.	141	P02100	HBE_HUMAN	S	141	ENSP00000369586:A141S;ENSP00000292896:A141S	ENSP00000292896:A141S	A	-	1	0	HBE1	5246298	1.000000	0.71417	0.995000	0.50966	0.061000	0.15899	5.832000	0.69337	2.882000	0.98803	0.655000	0.94253	GCC		PASS	0.557	HBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142973.2	NM_005330		66	138	66	138	---	---	---	---
OR51I2	390064	broad.mit.edu	37	11	5475566	5475566	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:5475566T>A	ENST00000341449.2	+	1	929	c.848T>A	c.(847-849)gTg>gAg	p.V283E	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	283					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V283E(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCTATTTGTGCCTCCTGTG	0.463																																						uc010qzf.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(847-849)GTG>GAG		olfactory receptor, family 51, subfamily I,							187.0	169.0	175.0					11																	5475566		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475566T>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.848T>A	11.37:g.5475566T>A	ENSP00000341987:p.Val283Glu					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.V283E	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	848	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	283			Helical; Name=7; (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.848T>A	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.957237	0.34565	.	.	ENSG00000187918	ENST00000341449	T	0.00302	8.2	5.58	4.46	0.54185	GPCR, rhodopsin-like superfamily (1);	0.116831	0.38272	N	0.001745	T	0.00967	0.0032	H	0.95328	3.655	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.20042	-1.0287	10	0.87932	D	0	.	9.6448	0.39861	0.0:0.0812:0.0:0.9188	.	283	Q9H344	O51I2_HUMAN	E	283	ENSP00000341987:V283E	ENSP00000341987:V283E	V	+	2	0	OR51I2	5432142	0.333000	0.24731	0.058000	0.19502	0.251000	0.25915	3.683000	0.54663	1.140000	0.42260	0.533000	0.62120	GTG		PASS	0.463	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		67	162	67	162	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6648620	6648620	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:6648620C>G	ENST00000299441.3	-	14	6061	c.5650G>C	c.(5650-5652)Gct>Cct	p.A1884P		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1884	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1884P(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTAGCTCCAGCATCAGGGTCA	0.627																																						uc001mem.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|pancreas(1)	5						c.(5650-5652)GCT>CCT		dachsous 1 precursor							36.0	33.0	34.0					11																	6648620		2201	4296	6497	SO:0001583	missense	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6648620C>G	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.5650G>C	11.37:g.6648620C>G	ENSP00000299441:p.Ala1884Pro						p.A1884P	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	14	6060	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1884			Cadherin 18.|Extracellular (Potential).		O15098	Missense_Mutation	SNP	ENST00000299441.3	37	c.5650G>C	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402589	0.25291	.	.	ENSG00000166341	ENST00000299441	T	0.02812	4.15	5.31	3.37	0.38596	Cadherin (4);Cadherin-like (1);	1.196290	0.06242	N	0.690679	T	0.04952	0.0133	L	0.42632	1.34	0.09310	N	0.999995	B	0.21381	0.055	B	0.31869	0.137	T	0.49390	-0.8945	10	0.30854	T	0.27	.	9.576	0.39459	0.1635:0.5627:0.2738:0.0	.	1884	Q96JQ0	PCD16_HUMAN	P	1884	ENSP00000299441:A1884P	ENSP00000299441:A1884P	A	-	1	0	DCHS1	6605196	0.978000	0.34361	0.955000	0.39395	0.904000	0.53231	2.025000	0.41059	0.733000	0.32492	0.557000	0.71058	GCT		PASS	0.627	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		8	13	8	13	---	---	---	---
OR10A2	341276	broad.mit.edu	37	11	6891618	6891618	+	Silent	SNP	C	C	A	rs61737577		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:6891618C>A	ENST00000307322.4	+	1	695	c.633C>A	c.(631-633)gcC>gcA	p.A211A		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	211						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A211A(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TTGCTGCTGCCATCCTCAAGA	0.448																																						uc001meu.1																			2	Substitution - coding silent(2)		large_intestine(1)|lung(1)	breast(1)	1						c.(631-633)GCC>GCA		olfactory receptor, family 10, subfamily A,							277.0	220.0	239.0					11																	6891618		2201	4296	6497	SO:0001819	synonymous_variant	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891618C>A	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.633C>A	11.37:g.6891618C>A							p.A211A	NM_001004460	NP_001004460	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	633	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	211			Cytoplasmic (Potential).		B2RNL9|Q6IFG9	Silent	SNP	ENST00000307322.4	37	c.633C>A	CCDS31415.1																																																																																				PASS	0.448	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		70	198	70	198	---	---	---	---
NLRP14	338323	broad.mit.edu	37	11	7064725	7064725	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:7064725A>G	ENST00000299481.4	+	4	1814	c.1468A>G	c.(1468-1470)Atg>Gtg	p.M490V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	490	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)	p.M490V(1)		breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TTTTGCAGCTATGTTCTATAT	0.408																																						uc001mfb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1)	8						c.(1468-1470)ATG>GTG		NLR family, pyrin domain containing 14							69.0	74.0	72.0					11																	7064725		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064725A>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1468A>G	11.37:g.7064725A>G	ENSP00000299481:p.Met490Val						p.M490V	NM_176822	NP_789792	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1791	+			490			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.1468A>G	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	A	9.095	1.002656	0.19121	.	.	ENSG00000158077	ENST00000299481	D	0.83335	-1.71	4.42	0.474	0.16768	.	0.280203	0.26812	N	0.022362	T	0.69575	0.3126	L	0.31371	0.925	0.24936	N	0.991887	P	0.34724	0.465	B	0.33690	0.168	T	0.60905	-0.7170	10	0.54805	T	0.06	.	7.4298	0.27120	0.328:0.5761:0.0958:0.0	.	490	Q86W24	NAL14_HUMAN	V	490	ENSP00000299481:M490V	ENSP00000299481:M490V	M	+	1	0	NLRP14	7021301	0.007000	0.16637	0.995000	0.50966	0.527000	0.34593	-0.740000	0.04861	-0.023000	0.13963	-0.371000	0.07208	ATG		PASS	0.408	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		38	102	38	102	---	---	---	---
ABCC8	6833	broad.mit.edu	37	11	17427074	17427074	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:17427074G>T	ENST00000389817.3	-	27	3434	c.3366C>A	c.(3364-3366)aaC>aaA	p.N1122K	ABCC8_ENST00000302539.4_Missense_Mutation_p.N1123K			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1122	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)	p.N1122K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	ATGAAAATCTGTTCAGGATGC	0.512																																						uc001mnc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3364-3366)AAC>AAA		ATP-binding cassette, sub-family C, member 8	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)						166.0	164.0	164.0					11																	17427074		2200	4293	6493	SO:0001583	missense	6833				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity	g.chr11:17427074G>T	L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.3366C>A	11.37:g.17427074G>T	ENSP00000374467:p.Asn1122Lys						p.N1122K	NM_000352	NP_000343	Q09428	ABCC8_HUMAN		READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	27	3492	-			1122			Cytoplasmic (By similarity).|ABC transmembrane type-1 2.		A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	ENST00000389817.3	37	c.3366C>A	CCDS31437.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.280354	0.80692	.	.	ENSG00000006071	ENST00000389817;ENST00000302539	D;D	0.90504	-2.68;-2.68	5.75	3.83	0.44106	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.96818	0.8961	H	0.98507	4.25	0.80722	D	1	D	0.69078	0.997	D	0.71414	0.973	D	0.97078	0.9782	10	0.87932	D	0	.	11.2	0.48736	0.1514:0.0:0.8486:0.0	.	1122	Q09428	ABCC8_HUMAN	K	1122;1123	ENSP00000374467:N1122K;ENSP00000303960:N1123K	ENSP00000303960:N1123K	N	-	3	2	ABCC8	17383650	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.330000	0.52068	1.376000	0.46267	0.655000	0.94253	AAC		PASS	0.512	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389093.1	NM_000352		60	131	60	131	---	---	---	---
SPTY2D1	144108	broad.mit.edu	37	11	18636920	18636920	+	Missense_Mutation	SNP	G	G	A	rs138155181	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:18636920G>A	ENST00000336349.5	-	3	1136	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	SPTY2D1_ENST00000543776.1_5'Flank	NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	301	Ser-rich.							p.R301C(3)		breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGGCCCTCACGAAGTGAGGGT	0.507																																						uc001moy.2																			3	Substitution - Missense(3)		cervix(1)|large_intestine(1)|lung(1)	breast(1)	1						c.(901-903)CGT>TGT		SPT2, Suppressor of Ty, domain containing 1		G	CYS/ARG	0,4398		0,0,2199	97.0	95.0	96.0		901	1.5	0.3	11	dbSNP_134	96	5,8581	4.3+/-15.6	0,5,4288	yes	missense	SPTY2D1	NM_194285.2	180	0,5,6487	AA,AG,GG		0.0582,0.0,0.0385	probably-damaging	301/686	18636920	5,12979	2199	4293	6492	SO:0001583	missense	144108							g.chr11:18636920G>A	BX647798	CCDS31441.1	11p15.1	2005-10-28			ENSG00000179119	ENSG00000179119			26818	protein-coding gene	gene with protein product							Standard	NM_194285		Approved	FLJ39441, DKFZp686I068	uc001moy.3	Q68D10	OTTHUMG00000167733	ENST00000336349.5:c.901C>T	11.37:g.18636920G>A	ENSP00000337991:p.Arg301Cys					SPTY2D1_uc010rdi.1_Missense_Mutation_p.R301C	p.R301C	NM_194285	NP_919261	Q68D10	SPT2_HUMAN			3	1117	-			301			Ser-rich.		Q6AWA5|Q6MZI5|Q7Z390|Q7Z470|Q86VG8|Q8N3E7|Q8N417|Q8N8I3	Missense_Mutation	SNP	ENST00000336349.5	37	c.901C>T	CCDS31441.1	.	.	.	.	.	.	.	.	.	.	G	9.141	1.013773	0.19277	0.0	5.82E-4	ENSG00000179119	ENST00000336349;ENST00000333429	T	0.23552	1.9	5.74	1.53	0.23141	.	0.456273	0.21728	N	0.070016	T	0.13243	0.0321	L	0.27053	0.805	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.15037	-1.0451	10	0.51188	T	0.08	-1.2027	1.2617	0.02002	0.1644:0.2187:0.3716:0.2453	.	301	Q68D10	SPT2_HUMAN	C	301	ENSP00000337991:R301C	ENSP00000331447:R301C	R	-	1	0	SPTY2D1	18593496	0.000000	0.05858	0.295000	0.24960	0.762000	0.43233	0.407000	0.21049	0.785000	0.33685	0.563000	0.77884	CGT		PASS	0.507	SPTY2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395941.1	NM_194285		9	163	9	163	---	---	---	---
ANO3	63982	broad.mit.edu	37	11	26663521	26663521	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:26663521T>C	ENST00000256737.3	+	22	3072	c.2220T>C	c.(2218-2220)gaT>gaC	p.D740D	ANO3_ENST00000537978.1_Silent_p.D724D|ANO3_ENST00000525139.1_Silent_p.D724D|ANO3_ENST00000531568.1_Silent_p.D594D	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	740					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)	p.D740D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GGGAAAATGATTGGAATCTGC	0.433																																						uc001mqt.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2218-2220)GAT>GAC		transmembrane protein 16C							139.0	127.0	131.0					11																	26663521		2203	4299	6502	SO:0001819	synonymous_variant	63982					chloride channel complex	chloride channel activity	g.chr11:26663521T>C	AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2220T>C	11.37:g.26663521T>C						ANO3_uc010rdr.1_Silent_p.D724D|ANO3_uc010rds.1_Silent_p.D579D|ANO3_uc010rdt.1_Silent_p.D594D	p.D740D	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN			22	2365	+			740			Extracellular (Potential).		B7Z3F5	Silent	SNP	ENST00000256737.3	37	c.2220T>C	CCDS31447.1																																																																																				PASS	0.433	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387806.1	NM_031418		43	113	43	113	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30032759	30032759	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:30032759G>T	ENST00000328224.6	-	2	2700	c.1467C>A	c.(1465-1467)gtC>gtA	p.V489V	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	489					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.V489V(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	AAAAGAGGATGACCCCAATGA	0.527																																						uc001msk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(1465-1467)GTC>GTA		potassium voltage-gated channel, shaker-related							59.0	62.0	61.0					11																	30032759		2138	4273	6411	SO:0001819	synonymous_variant	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30032759G>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1467C>A	11.37:g.30032759G>T							p.V489V	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	2619	-			489			Helical; Name=Segment S5; (Potential).			Silent	SNP	ENST00000328224.6	37	c.1467C>A	CCDS41629.1																																																																																				PASS	0.527	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		22	71	22	71	---	---	---	---
LRRC4C	57689	broad.mit.edu	37	11	40137001	40137001	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:40137001A>T	ENST00000278198.2	-	2	2805	c.842T>A	c.(841-843)tTa>tAa	p.L281*	LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.L281*|LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.L281*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.L281*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	281					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.L281*(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATGAGGCAGTAATGTTAGATT	0.453																																						uc001mxa.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(3)|central_nervous_system(1)	8						c.(841-843)TTA>TAA		netrin-G1 ligand precursor							212.0	165.0	181.0					11																	40137001		2203	4300	6503	SO:0001587	stop_gained	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137001A>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.842T>A	11.37:g.40137001A>T	ENSP00000278198:p.Leu281*					LRRC4C_uc001mxc.1_Nonsense_Mutation_p.L277*|LRRC4C_uc001mxd.1_Nonsense_Mutation_p.L277*|LRRC4C_uc001mxb.1_Nonsense_Mutation_p.L277*	p.L281*	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN			2	2806	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	281			LRR 9.		A8K0T1|Q7L0N3	Nonsense_Mutation	SNP	ENST00000278198.2	37	c.842T>A	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	A	40	7.972287	0.98588	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	.	.	.	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	15.2446	0.73497	1.0:0.0:0.0:0.0	.	.	.	.	X	281	.	ENSP00000278198:L281X	L	-	2	0	LRRC4C	40093577	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.576000	0.82467	2.202000	0.70862	0.528000	0.53228	TTA		PASS	0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		58	140	58	140	---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55340461	55340461	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:55340461G>T	ENST00000314634.3	+	1	858	c.858G>T	c.(856-858)acG>acT	p.T286T		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	286						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T286T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGATTTACACGCTGAAGAATA	0.363																																						uc010rih.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(856-858)ACG>ACT		olfactory receptor, family 4, subfamily C,							58.0	55.0	56.0					11																	55340461		2201	4296	6497	SO:0001819	synonymous_variant	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55340461G>T	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.858G>T	11.37:g.55340461G>T							p.T286T	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	858	+		all_epithelial(135;0.0748)	286			Helical; Name=7; (Potential).		Q6IEV8	Silent	SNP	ENST00000314634.3	37	c.858G>T	CCDS31502.1																																																																																				PASS	0.363	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		14	67	14	67	---	---	---	---
OR8H2	390151	broad.mit.edu	37	11	55872536	55872536	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:55872536T>C	ENST00000313503.1	+	1	18	c.18T>C	c.(16-18)aaT>aaC	p.N6N		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.N6N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GTAGAAGGAATAACACAAATG	0.443										HNSCC(53;0.14)																												uc010riy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(16-18)AAT>AAC		olfactory receptor, family 8, subfamily H,							195.0	185.0	188.0					11																	55872536		2201	4296	6497	SO:0001819	synonymous_variant	390151				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55872536T>C	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.18T>C	11.37:g.55872536T>C		HNSCC(53;0.14)					p.N6N	NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN			1	18	+	Esophageal squamous(21;0.00693)		6			Extracellular (Potential).		Q6IFC1	Silent	SNP	ENST00000313503.1	37	c.18T>C	CCDS31518.1																																																																																				PASS	0.443	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391540.1	NM_001005200		6	232	6	232	---	---	---	---
OR8J3	81168	broad.mit.edu	37	11	55904850	55904850	+	Silent	SNP	C	C	A	rs377708276		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:55904850C>A	ENST00000301529.1	-	1	344	c.345G>T	c.(343-345)ctG>ctT	p.L115L		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L115L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CCATCACAGCCAGCATCATTA	0.483																																						uc010riz.1																			2	Substitution - coding silent(2)		lung(2)	skin(2)	2						c.(343-345)CTG>CTT		olfactory receptor, family 8, subfamily J,		C		0,4402		0,0,2201	152.0	140.0	144.0		345	-4.7	0.0	11		144	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR8J3	NM_001004064.1		0,1,6496	AA,AC,CC		0.0116,0.0,0.0077		115/316	55904850	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	81168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55904850C>A		CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.345G>T	11.37:g.55904850C>A							p.L115L	NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN			1	345	-	Esophageal squamous(21;0.00693)		115			Helical; Name=3; (Potential).		Q6IFB6|Q96RC2	Silent	SNP	ENST00000301529.1	37	c.345G>T	CCDS31520.1																																																																																				PASS	0.483	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064		56	119	56	119	---	---	---	---
OR8J1	219477	broad.mit.edu	37	11	56127763	56127763	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:56127763T>A	ENST00000303039.3	+	1	73	c.41T>A	c.(40-42)cTt>cAt	p.L14H		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L14H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	47	Esophageal squamous(21;0.00448)					GAGTTTATTCTTACAGGTGTC	0.458																																						uc010rjh.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(40-42)CTT>CAT		olfactory receptor, family 8, subfamily J,							77.0	81.0	80.0					11																	56127763		2201	4296	6497	SO:0001583	missense	219477				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56127763T>A	AB065748	CCDS31529.1	11q11	2012-08-09			ENSG00000172487	ENSG00000172487		"""GPCR / Class A : Olfactory receptors"""	14855	protein-coding gene	gene with protein product							Standard	NM_001005205		Approved		uc010rjh.2	Q8NGP2	OTTHUMG00000166859	ENST00000303039.3:c.41T>A	11.37:g.56127763T>A	ENSP00000304060:p.Leu14His						p.L14H	NM_001005205	NP_001005205	Q8NGP2	OR8J1_HUMAN			1	41	+	Esophageal squamous(21;0.00448)		14			Extracellular (Potential).		B2RNQ6|B9EH63|Q6IFC2|Q96RC3	Missense_Mutation	SNP	ENST00000303039.3	37	c.41T>A	CCDS31529.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.477834	0.44044	.	.	ENSG00000172487	ENST00000303039	T	0.00563	6.58	4.68	4.68	0.58851	.	0.111423	0.40728	N	0.001024	T	0.04770	0.0129	H	0.98487	4.245	0.31620	N	0.650425	D	0.89917	1.0	D	0.75484	0.986	T	0.07046	-1.0793	10	0.87932	D	0	.	13.2522	0.60057	0.0:0.0:0.0:1.0	.	14	Q8NGP2	OR8J1_HUMAN	H	14	ENSP00000304060:L14H	ENSP00000304060:L14H	L	+	2	0	OR8J1	55884339	0.907000	0.30839	0.504000	0.27639	0.168000	0.22595	6.546000	0.73887	1.874000	0.54306	0.523000	0.50628	CTT		PASS	0.458	OR8J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391606.2	NM_001005205		29	76	29	76	---	---	---	---
OR5M9	390162	broad.mit.edu	37	11	56230176	56230176	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:56230176C>G	ENST00000279791.1	-	1	701	c.702G>C	c.(700-702)aaG>aaC	p.K234N		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K234N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGGAGAACGCCTTCCTCCTGC	0.522																																						uc010rjj.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(700-702)AAG>AAC		olfactory receptor, family 5, subfamily M,							58.0	54.0	56.0					11																	56230176		2201	4296	6497	SO:0001583	missense	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230176C>G	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.702G>C	11.37:g.56230176C>G	ENSP00000279791:p.Lys234Asn						p.K234N	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			1	702	-	Esophageal squamous(21;0.00448)		234			Cytoplasmic (Potential).		Q6IEW5|Q96RB9	Missense_Mutation	SNP	ENST00000279791.1	37	c.702G>C	CCDS31531.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.676664	0.29783	.	.	ENSG00000150269	ENST00000279791	T	0.00374	7.72	4.39	-0.416	0.12351	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000288	T	0.01124	0.0037	H	0.95365	3.66	0.30543	N	0.766267	D	0.89917	1.0	D	0.97110	1.0	T	0.14200	-1.0481	10	0.87932	D	0	-18.3534	6.9866	0.24731	0.0:0.4081:0.0:0.5919	.	234	Q8NGP3	OR5M9_HUMAN	N	234	ENSP00000279791:K234N	ENSP00000279791:K234N	K	-	3	2	OR5M9	55986752	0.019000	0.18553	0.408000	0.26446	0.026000	0.11368	-0.896000	0.04114	0.087000	0.17167	-0.321000	0.08615	AAG		PASS	0.522	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743		12	16	12	16	---	---	---	---
OR9G4	283189	broad.mit.edu	37	11	56510333	56510333	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:56510333C>A	ENST00000302957.3	-	1	954	c.955G>T	c.(955-957)Gca>Tca	p.A319S		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	319						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A319S(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTCTGTGTTGCTTTCCTGAAG	0.393																																						uc010rjo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(955-957)GCA>TCA		olfactory receptor, family 9, subfamily G,							196.0	172.0	180.0					11																	56510333		2201	4296	6497	SO:0001583	missense	283189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56510333C>A	BK004400	CCDS31537.1	11q11	2012-08-09			ENSG00000172457	ENSG00000172457		"""GPCR / Class A : Olfactory receptors"""	15322	protein-coding gene	gene with protein product							Standard	NM_001005284		Approved		uc010rjo.2	Q8NGQ1	OTTHUMG00000166932	ENST00000302957.3:c.955G>T	11.37:g.56510333C>A	ENSP00000307515:p.Ala319Ser						p.A319S	NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN			1	955	-			319			Cytoplasmic (Potential).		Q6IF62|Q96RA9	Missense_Mutation	SNP	ENST00000302957.3	37	c.955G>T	CCDS31537.1	.	.	.	.	.	.	.	.	.	.	C	7.231	0.599303	0.13939	.	.	ENSG00000172457	ENST00000302957	T	0.37235	1.21	5.3	1.29	0.21616	.	0.188191	0.25810	N	0.028152	T	0.15609	0.0376	N	0.16066	0.365	0.19575	N	0.999964	B	0.32573	0.376	B	0.30401	0.115	T	0.08953	-1.0697	10	0.44086	T	0.13	-0.5638	1.4684	0.02411	0.1387:0.4235:0.1348:0.303	.	319	Q8NGQ1	OR9G4_HUMAN	S	319	ENSP00000307515:A319S	ENSP00000307515:A319S	A	-	1	0	OR9G4	56266909	.	.	0.765000	0.31456	0.461000	0.32589	.	.	0.375000	0.24679	0.643000	0.83706	GCA		PASS	0.393	OR9G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391945.1	NM_001005284		46	130	46	130	---	---	---	---
P2RX3	5024	broad.mit.edu	37	11	57106060	57106060	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:57106060C>A	ENST00000263314.2	+	1	70	c.36C>A	c.(34-36)acC>acA	p.T12T	SSRP1_ENST00000278412.2_5'Flank|P2RX3_ENST00000533436.1_3'UTR	NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	12					behavioral response to pain (GO:0048266)|cation transmembrane transport (GO:0098655)|neuromuscular synaptic transmission (GO:0007274)|neuronal action potential (GO:0019228)|peristalsis (GO:0030432)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of synaptic plasticity (GO:0048167)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|response to cold (GO:0009409)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)|transport (GO:0006810)|urinary bladder smooth muscle contraction (GO:0014832)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|purinergic nucleotide receptor activity (GO:0001614)	p.T12T(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CCTATGAGACCACCAAGTCGG	0.542																																						uc001nju.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(34-36)ACC>ACA		purinergic receptor P2X3							256.0	230.0	239.0					11																	57106060		2201	4296	6497	SO:0001819	synonymous_variant	5024				positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	g.chr11:57106060C>A	Y07683	CCDS7953.1	11q12	2012-01-17			ENSG00000109991	ENSG00000109991		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8534	protein-coding gene	gene with protein product		600843				9221902	Standard	NM_002559		Approved	P2X3	uc001nju.3	P56373	OTTHUMG00000167025	ENST00000263314.2:c.36C>A	11.37:g.57106060C>A						SSRP1_uc001njt.2_5'Flank	p.T12T	NM_002559	NP_002550	P56373	P2RX3_HUMAN			1	112	+			12			Cytoplasmic (Potential).		Q6DK37|Q9UQB6	Silent	SNP	ENST00000263314.2	37	c.36C>A	CCDS7953.1																																																																																				PASS	0.542	P2RX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392465.1	NM_002559		96	226	96	226	---	---	---	---
OR5B17	219965	broad.mit.edu	37	11	58126131	58126131	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:58126131C>A	ENST00000357377.3	-	1	411	c.412G>T	c.(412-414)Gtg>Ttg	p.V138L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V138L(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CAAGCACACACACGTGTTGTC	0.453																																						uc010rke.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(412-414)GTG>TTG		olfactory receptor, family 5, subfamily B,							115.0	107.0	109.0					11																	58126131		2201	4295	6496	SO:0001583	missense	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58126131C>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.412G>T	11.37:g.58126131C>A	ENSP00000349945:p.Val138Leu						p.V138L	NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN			1	412	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	138			Helical; Name=4; (Potential).		Q6IEX1	Missense_Mutation	SNP	ENST00000357377.3	37	c.412G>T	CCDS31548.1	.	.	.	.	.	.	.	.	.	.	c	9.211	1.030925	0.19590	.	.	ENSG00000197786	ENST00000357377	T	0.01379	4.96	3.27	-1.02	0.10135	GPCR, rhodopsin-like superfamily (1);	1.994630	0.03211	N	0.176205	T	0.01592	0.0051	L	0.28054	0.825	0.09310	N	1	B	0.23650	0.089	B	0.30716	0.119	T	0.47636	-0.9102	10	0.38643	T	0.18	-0.0268	4.2755	0.10806	0.0:0.3716:0.3223:0.3061	.	138	Q8NGF7	OR5BH_HUMAN	L	138	ENSP00000349945:V138L	ENSP00000349945:V138L	V	-	1	0	OR5B17	57882707	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.113000	0.00598	-0.496000	0.06650	-0.384000	0.06662	GTG		PASS	0.453	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		17	56	17	56	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190356	58190356	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:58190356G>T	ENST00000302581.2	-	1	430	c.379C>A	c.(379-381)Ccc>Acc	p.P127T		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	127						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P127T(1)		NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TAGTGTAGGGGTTTGCACACT	0.522																																						uc010rkg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(379-381)CCC>ACC		olfactory receptor, family 5, subfamily B,							107.0	88.0	95.0					11																	58190356		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190356G>T	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.379C>A	11.37:g.58190356G>T	ENSP00000303076:p.Pro127Thr						p.P127T	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	379	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	127			Cytoplasmic (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.379C>A	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550590	0.45383	.	.	ENSG00000172365	ENST00000302581	T	0.01887	4.58	3.84	3.84	0.44239	GPCR, rhodopsin-like superfamily (1);	0.000000	0.35291	U	0.003316	T	0.26919	0.0659	H	0.99682	4.7	0.46725	D	0.999179	D	0.76494	0.999	D	0.79108	0.992	T	0.58532	-0.7620	10	0.87932	D	0	-16.3886	14.8075	0.69968	0.0:0.0:1.0:0.0	.	127	Q96R09	OR5B2_HUMAN	T	127	ENSP00000303076:P127T	ENSP00000303076:P127T	P	-	1	0	OR5B2	57946932	1.000000	0.71417	0.126000	0.21872	0.060000	0.15804	7.662000	0.83803	2.158000	0.67659	0.585000	0.79938	CCC		PASS	0.522	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		14	53	14	53	---	---	---	---
OR5B12	390191	broad.mit.edu	37	11	58206901	58206901	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:58206901G>T	ENST00000302572.2	-	1	745	c.724C>A	c.(724-726)Cac>Aac	p.H242N		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H242N(1)		large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCAGTAAGGTGGGAAGCACAA	0.423																																						uc010rkh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(724-726)CAC>AAC		olfactory receptor, family 5, subfamily B,							79.0	76.0	77.0					11																	58206901		2201	4295	6496	SO:0001583	missense	390191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58206901G>T	AB065851	CCDS31551.1	11q12.1	2012-08-09		2004-03-10	ENSG00000172362	ENSG00000172362		"""GPCR / Class A : Olfactory receptors"""	15432	protein-coding gene	gene with protein product				OR5B12P, OR5B16		12213199	Standard	NM_001004733		Approved	OST743	uc010rkh.2	Q96R08	OTTHUMG00000167543	ENST00000302572.2:c.724C>A	11.37:g.58206901G>T	ENSP00000306657:p.His242Asn						p.H242N	NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN			1	724	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	242			Helical; Name=6; (Potential).		B2RNL2|Q6IEV5	Missense_Mutation	SNP	ENST00000302572.2	37	c.724C>A	CCDS31551.1	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673272	0.67928	.	.	ENSG00000172362	ENST00000302572	T	0.00314	8.14	4.3	4.3	0.51218	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000096	T	0.01254	0.0041	H	0.97491	4.015	0.43527	D	0.995804	D	0.76494	0.999	D	0.77557	0.99	T	0.40040	-0.9584	10	0.87932	D	0	-1.3916	16.2624	0.82553	0.0:0.0:1.0:0.0	.	242	Q96R08	OR5BC_HUMAN	N	242	ENSP00000306657:H242N	ENSP00000306657:H242N	H	-	1	0	OR5B12	57963477	1.000000	0.71417	1.000000	0.80357	0.630000	0.37929	9.423000	0.97461	2.383000	0.81215	0.462000	0.41574	CAC		PASS	0.423	OR5B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394987.1	NM_001004733		26	65	26	65	---	---	---	---
MS4A14	84689	broad.mit.edu	37	11	60183926	60183926	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:60183926G>T	ENST00000300187.6	+	5	1762	c.1485G>T	c.(1483-1485)ttG>ttT	p.L495F	MS4A14_ENST00000395005.2_Missense_Mutation_p.L478F|MS4A14_ENST00000531783.1_Missense_Mutation_p.L528F|MS4A14_ENST00000531787.1_Missense_Mutation_p.L383F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	495	Gln-rich.					integral component of membrane (GO:0016021)		p.L495F(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						CCAAAGCCTTGCAATACTTAA	0.433																																						uc001npj.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1483-1485)TTG>TTT		membrane-spanning 4-domains, subfamily A, member							85.0	89.0	88.0					11																	60183926		2203	4299	6502	SO:0001583	missense	84689					integral to membrane	receptor activity	g.chr11:60183926G>T	AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1485G>T	11.37:g.60183926G>T	ENSP00000300187:p.Leu495Phe					MS4A14_uc001npi.2_Missense_Mutation_p.L383F|MS4A14_uc001npn.2_Missense_Mutation_p.L233F|MS4A14_uc001npk.2_Missense_Mutation_p.L478F|MS4A14_uc001npl.2_Missense_Mutation_p.L233F|MS4A14_uc001npm.2_Missense_Mutation_p.L233F	p.L495F	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN			5	2050	+			495			Gln-rich.		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	ENST00000300187.6	37	c.1485G>T	CCDS31569.1	.	.	.	.	.	.	.	.	.	.	G	1.638	-0.517218	0.04171	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.32272	1.46;2.68;1.46;3.04	2.43	0.443	0.16587	.	7739.210000	0.00166	N	0.000000	T	0.24661	0.0598	L	0.43152	1.355	0.09310	N	1	P;P	0.41848	0.763;0.651	B;B	0.38985	0.287;0.149	T	0.13791	-1.0496	10	0.13853	T	0.58	16.545	4.5074	0.11894	0.1341:0.0:0.6466:0.2192	.	478;495	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	F	383;495;478;528	ENSP00000437222:L383F;ENSP00000300187:L495F;ENSP00000378453:L478F;ENSP00000433761:L528F	ENSP00000300187:L495F	L	+	3	2	MS4A14	59940502	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.467000	0.06664	0.116000	0.18110	0.484000	0.47621	TTG		PASS	0.433	MS4A14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395383.2			43	95	43	95	---	---	---	---
DDB1	1642	broad.mit.edu	37	11	61071505	61071505	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:61071505C>T	ENST00000301764.7	-	22	3061	c.2664G>A	c.(2662-2664)gtG>gtA	p.V888V	DDB1_ENST00000451943.2_5'Flank|DDB1_ENST00000538470.1_5'Flank|DDB1_ENST00000450997.2_Silent_p.V199V	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	888	Interaction with CDT1 and CUL4A.|WD repeat beta-propeller C.				DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of mitotic cell cycle phase transition (GO:1901990)|UV-damage excision repair (GO:0070914)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)	p.V888V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						CATAGAGCCGCACCTGGGAAG	0.547								Nucleotide excision repair (NER)																														uc001nrc.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(2662-2664)GTG>GTA	NER	damage-specific DNA binding protein 1							122.0	116.0	118.0					11																	61071505		2203	4299	6502	SO:0001819	synonymous_variant	1642				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding	g.chr11:61071505C>T	AJ002955	CCDS31576.1	11q12-q13	2014-09-17	2002-08-29		ENSG00000167986	ENSG00000167986			2717	protein-coding gene	gene with protein product		600045	"""damage-specific DNA binding protein 1 (127kD)"""			8530102, 10574459	Standard	NM_001923		Approved	XPE	uc001nrc.5	Q16531	OTTHUMG00000168209	ENST00000301764.7:c.2664G>A	11.37:g.61071505C>T						DDB1_uc010rle.1_Silent_p.V199V|DDB1_uc010rlf.1_Silent_p.V888V	p.V888V	NM_001923	NP_001914	Q16531	DDB1_HUMAN			22	2890	-			888			Interaction with CDT1 and CUL4A.		A6NG77|B2R648|B4DG00|O15176|Q13289|Q58F96	Silent	SNP	ENST00000301764.7	37	c.2664G>A	CCDS31576.1																																																																																				PASS	0.547	DDB1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398816.1	NM_001923		27	72	27	72	---	---	---	---
SPDYC	387778	broad.mit.edu	37	11	64939436	64939436	+	Silent	SNP	C	C	T	rs375301773		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:64939436C>T	ENST00000377185.2	+	3	304	c.222C>T	c.(220-222)ttC>ttT	p.F74F	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.F74F(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TCCAGGAATTCCTCTCCAAAG	0.527																																						uc010rnz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(220-222)TTC>TTT		speedy C		C		0,4402		0,0,2201	80.0	77.0	78.0		222	3.3	1.0	11		78	1,8593		0,1,4296	no	coding-synonymous	SPDYC	NM_001008778.1		0,1,6497	TT,TC,CC		0.0116,0.0,0.0077		74/294	64939436	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64939436C>T	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.222C>T	11.37:g.64939436C>T							p.F74F	NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN			3	222	+			74			Speedy/Ringo box; Required for CDK- binding (By similarity).			Silent	SNP	ENST00000377185.2	37	c.222C>T	CCDS31606.1																																																																																				PASS	0.527	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		36	74	36	74	---	---	---	---
SPDYC	387778	broad.mit.edu	37	11	64940209	64940209	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:64940209C>G	ENST00000377185.2	+	6	653	c.571C>G	c.(571-573)Cat>Gat	p.H191D	AP003068.18_ENST00000534819.1_RNA	NM_001008778.1	NP_001008778.1			speedy/RINGO cell cycle regulator family member C									p.H191D(1)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						GCGCCCCCACCATGGTGGGGT	0.662																																						uc010rnz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)CAT>GAT		speedy C							39.0	43.0	41.0					11																	64940209		2201	4297	6498	SO:0001583	missense	387778				cell cycle	nucleus	protein kinase binding	g.chr11:64940209C>G	AY820305	CCDS31606.1	11q13.1	2013-05-08	2013-05-08		ENSG00000204710	ENSG00000204710		"""Speedy homologs"""	32681	protein-coding gene	gene with protein product		614030	"""speedy homolog C (Xenopus laevis)"""			15611625	Standard	NM_001008778		Approved	Ringo2	uc010rnz.2	Q5MJ68	OTTHUMG00000165611	ENST00000377185.2:c.571C>G	11.37:g.64940209C>G	ENSP00000366390:p.His191Asp						p.H191D	NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN			6	571	+			191						Missense_Mutation	SNP	ENST00000377185.2	37	c.571C>G	CCDS31606.1	.	.	.	.	.	.	.	.	.	.	C	37	6.052737	0.97241	.	.	ENSG00000204710	ENST00000377185	.	.	.	5.5	5.5	0.81552	.	0.000000	0.52532	D	0.000061	T	0.66925	0.2839	L	0.32530	0.975	0.42825	D	0.994	D	0.89917	1.0	D	0.69307	0.963	T	0.70234	-0.4928	9	0.87932	D	0	.	16.8884	0.86081	0.0:1.0:0.0:0.0	.	191	Q5MJ68	SPDYC_HUMAN	D	191	.	ENSP00000366390:H191D	H	+	1	0	SPDYC	64696785	0.998000	0.40836	0.099000	0.21106	0.996000	0.88848	4.359000	0.59449	2.590000	0.87494	0.655000	0.94253	CAT		PASS	0.662	SPDYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385299.1	NM_001008778		24	57	24	57	---	---	---	---
MALAT1	378938	broad.mit.edu	37	11	65267822	65267822	+	lincRNA	SNP	A	A	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:65267822A>C	ENST00000534336.1	+	0	2590				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTGAGTTAAGATTATTTTTTA	0.368																																						uc010roh.1																			0					0								Homo sapiens clone alpha1 mRNA sequence.							43.0	44.0	44.0					11																	65267822		874	1988	2862			378938							g.chr11:65267822A>C	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65267822A>C						uc001ody.2_RNA|MALAT1_uc001odz.2_5'Flank		NR_002819						1		+									RNA	SNP	ENST00000534336.1	37	c.2590A>C																																																																																					PASS	0.368	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		19	41	19	41	---	---	---	---
MAP3K11	4296	broad.mit.edu	37	11	65375242	65375242	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:65375242A>G	ENST00000530153.1	-	4	865	c.344T>C	c.(343-345)aTc>aCc	p.I115T	MAP3K11_ENST00000534432.1_5'Flank|MAP3K11_ENST00000309100.3_Missense_Mutation_p.I372T|MAP3K11_ENST00000532507.1_5'Flank					mitogen-activated protein kinase kinase kinase 11									p.I372T(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						CTGCTGCAGGATGGAGGCGAA	0.652																																						uc001oew.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|lung(1)|central_nervous_system(1)|skin(1)	6						c.(1114-1116)ATC>ACC		mitogen-activated protein kinase kinase kinase							38.0	43.0	42.0					11																	65375242		2201	4297	6498	SO:0001583	missense	4296				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	g.chr11:65375242A>G		CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.344T>C	11.37:g.65375242A>G	ENSP00000433886:p.Ile115Thr					MAP3K11_uc001oev.2_5'Flank|MAP3K11_uc010rol.1_Missense_Mutation_p.I115T|MAP3K11_uc001oex.1_Intron	p.I372T	NM_002419	NP_002410	Q16584	M3K11_HUMAN			4	1608	-			372			Protein kinase.			Missense_Mutation	SNP	ENST00000530153.1	37	c.1115T>C		.	.	.	.	.	.	.	.	.	.	A	25.8	4.677363	0.88445	.	.	ENSG00000173327	ENST00000309100;ENST00000530153	D;D	0.94687	-3.49;-2.79	5.32	5.32	0.75619	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.133398	0.49916	D	0.000138	D	0.97393	0.9147	M	0.89163	3.01	0.58432	D	0.999992	D	0.76494	0.999	D	0.79108	0.992	D	0.98106	1.0417	10	0.87932	D	0	.	13.2215	0.59890	1.0:0.0:0.0:0.0	.	372	Q16584	M3K11_HUMAN	T	372;115	ENSP00000309597:I372T;ENSP00000433886:I115T	ENSP00000309597:I372T	I	-	2	0	MAP3K11	65131818	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.243000	0.95416	2.015000	0.59207	0.402000	0.26972	ATC		PASS	0.652	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000390233.2			30	48	30	48	---	---	---	---
LRP5	4041	broad.mit.edu	37	11	68216404	68216404	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:68216404C>A	ENST00000294304.7	+	23	4820	c.4714C>A	c.(4714-4716)Ccc>Acc	p.P1572T	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1572	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.P1572T(1)		autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACTCAGACCCCTATCCACC	0.657																																						uc001ont.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(4714-4716)CCC>ACC		low density lipoprotein receptor-related protein							79.0	60.0	67.0					11																	68216404		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68216404C>A	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4714C>A	11.37:g.68216404C>A	ENSP00000294304:p.Pro1572Thr					LRP5_uc009ysg.2_Missense_Mutation_p.P982T	p.P1572T	NM_002335	NP_002326	O75197	LRP5_HUMAN			23	4789	+			1572			Pro-rich.|Cytoplasmic (Potential).		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.4714C>A	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975013	0.53720	.	.	ENSG00000162337	ENST00000294304	D	0.95949	-3.86	4.53	4.53	0.55603	.	0.000000	0.46145	U	0.000319	D	0.97501	0.9182	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.985	D	0.98338	1.0537	10	0.87932	D	0	.	17.5324	0.87818	0.0:1.0:0.0:0.0	.	1572;1572	Q9UES7;O75197	.;LRP5_HUMAN	T	1572	ENSP00000294304:P1572T	ENSP00000294304:P1572T	P	+	1	0	LRP5	67972980	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	5.537000	0.67186	2.367000	0.80283	0.555000	0.69702	CCC		PASS	0.657	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		22	33	22	33	---	---	---	---
MRGPRF	116535	broad.mit.edu	37	11	68773487	68773487	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:68773487C>A	ENST00000309099.6	-	3	673	c.291G>T	c.(289-291)gcG>gcT	p.A97A	RP11-554A11.5_ENST00000562506.1_RNA|MRGPRF_ENST00000441623.1_Silent_p.A97A	NM_145015.4	NP_659452.3	Q96AM1	MRGRF_HUMAN	MAS-related GPR, member F	97						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A97A(1)		endometrium(3)|lung(4)	7			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TGGAGAACACCGCCTTGCTGA	0.607																																						uc001ooo.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(289-291)GCG>GCT		MAS-related GPR, member F							36.0	31.0	33.0					11																	68773487		2183	4284	6467	SO:0001819	synonymous_variant	116535					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:68773487C>A	AK075492	CCDS8188.1	11q13.1	2014-03-13	2004-03-25		ENSG00000172935	ENSG00000172935		"""GPCR / Class A : Orphans"""	24828	protein-coding gene	gene with protein product		607233	"""G protein-coupled receptor 168"", ""G protein-coupled receptor 140"""	GPR168, GPR140		12477932	Standard	NM_001098515		Approved	MGC21621, mrgF	uc001oop.4	Q96AM1	OTTHUMG00000167897	ENST00000309099.6:c.291G>T	11.37:g.68773487C>A						MRGPRF_uc001oop.3_Silent_p.A97A	p.A97A	NM_001098515	NP_001091985	Q96AM1	MRGRF_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		3	658	-			97			Helical; Name=2; (Potential).		B3KV43|Q8NBK8	Silent	SNP	ENST00000309099.6	37	c.291G>T	CCDS8188.1																																																																																				PASS	0.607	MRGPRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396875.1	NM_145015		4	5	4	5	---	---	---	---
DHCR7	1717	broad.mit.edu	37	11	71146795	71146795	+	Silent	SNP	G	G	T	rs80338860		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:71146795G>T	ENST00000355527.3	-	9	1330	c.1054C>A	c.(1054-1056)Cgg>Agg	p.R352R	DHCR7_ENST00000407721.2_Silent_p.R352R	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	352			R -> Q (in SLOS). {ECO:0000269|PubMed:10677299}.|R -> W (in SLOS). {ECO:0000269|PubMed:10677299, ECO:0000269|PubMed:11175299, ECO:0000269|PubMed:9653161}.		blood vessel development (GO:0001568)|cell differentiation (GO:0030154)|cholesterol biosynthetic process (GO:0006695)|lung development (GO:0030324)|multicellular organism growth (GO:0035264)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|regulation of cholesterol biosynthetic process (GO:0045540)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear outer membrane (GO:0005640)	7-dehydrocholesterol reductase activity (GO:0047598)	p.R352R(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19						TTGGCCACCCGGAAGATGTAG	0.667									Smith-Lemli-Opitz syndrome																													uc001oqk.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|liver(1)	2	GRCh37	CM980552	DHCR7	M	rs80338860	c.(1054-1056)CGG>AGG		7-dehydrocholesterol reductase	NADH(DB00157)						37.0	36.0	36.0					11																	71146795		2200	4294	6494	SO:0001819	synonymous_variant	1717	Smith-Lemli-Opitz_syndrome	Familial Cancer Database	SLOS type I & II	cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	g.chr11:71146795G>T	AF034544	CCDS8200.1	11q13.4	2014-09-17	2004-02-13				1.3.1.21		2860	protein-coding gene	gene with protein product		602858	"""Smith-Lemli-Opitz syndrome"""	SLOS		9465114, 9634533	Standard	NM_001360		Approved		uc001oql.3	Q9UBM7		ENST00000355527.3:c.1054C>A	11.37:g.71146795G>T						DHCR7_uc001oql.2_Silent_p.R352R	p.R352R	NM_001163817	NP_001157289	Q9UBM7	DHCR7_HUMAN			9	1304	-			352		R -> W (in SLOS).|R -> Q (in SLOS).			B2R6Z2|O60492|O60717	Silent	SNP	ENST00000355527.3	37	c.1054C>A	CCDS8200.1																																																																																				PASS	0.667	DHCR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394243.1	NM_001360		27	38	27	38	---	---	---	---
KRTAP5-11	440051	broad.mit.edu	37	11	71293713	71293713	+	Nonsense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:71293713A>T	ENST00000398530.1	-	1	208	c.171T>A	c.(169-171)tgT>tgA	p.C57*	KRTAP5-11_ENST00000526239.1_Intron|AP000867.1_ENST00000343767.3_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	57	6 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.C57*(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CACAGGAGCCACAGCTGGAGC	0.632																																						uc001oqu.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(169-171)TGT>TGA		keratin associated protein 5-11							99.0	122.0	114.0					11																	71293713		2200	4293	6493	SO:0001587	stop_gained	440051					keratin filament		g.chr11:71293713A>T	AB126080	CCDS41685.1	11q13.4	2008-11-06			ENSG00000204571	ENSG00000204571		"""Keratin associated proteins"""	23606	protein-coding gene	gene with protein product						15144888	Standard	NM_001005405		Approved	KRTAP5.11, KRTAP5-6	uc001oqu.3	Q6L8G4	OTTHUMG00000057586	ENST00000398530.1:c.171T>A	11.37:g.71293713A>T	ENSP00000381541:p.Cys57*						p.C57*	NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN			1	209	-			57			6 X 4 AA repeats of C-C-X-P.			Nonsense_Mutation	SNP	ENST00000398530.1	37	c.171T>A	CCDS41685.1	.	.	.	.	.	.	.	.	.	.	.	18.06	3.539613	0.65085	.	.	ENSG00000204571	ENST00000376535;ENST00000398530	.	.	.	1.72	1.72	0.24424	.	.	.	.	.	.	.	.	.	.	.	0.53005	D	0.99996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.6988	0.12816	0.6666:0.3334:0.0:0.0	.	.	.	.	X	57	.	ENSP00000365718:C57X	C	-	3	2	KRTAP5-11	70971361	1.000000	0.71417	0.999000	0.59377	0.822000	0.46500	0.995000	0.29706	1.031000	0.39867	0.445000	0.29226	TGT		PASS	0.632	KRTAP5-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127969.1	NM_001005405		61	167	61	167	---	---	---	---
ARHGEF17	9828	broad.mit.edu	37	11	73022174	73022174	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:73022174C>T	ENST00000263674.3	+	1	2841	c.2491C>T	c.(2491-2493)Ccc>Tcc	p.P831S	RP11-800A3.7_ENST00000546324.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	831					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P831S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CCTGAGTGACCCCAGCCGCCG	0.642																																						uc001otu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2491-2493)CCC>TCC		Rho guanine nucleotide exchange factor (GEF) 17							48.0	58.0	54.0					11																	73022174		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73022174C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.2491C>T	11.37:g.73022174C>T	ENSP00000263674:p.Pro831Ser						p.P831S	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			1	2512	+			831					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.2491C>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.939951	0.73557	.	.	ENSG00000110237	ENST00000263674	T	0.78707	-1.2	5.08	4.16	0.48862	.	0.081829	0.47455	N	0.000232	T	0.67599	0.2910	L	0.29908	0.895	0.42311	D	0.992215	P	0.46220	0.874	B	0.41036	0.346	T	0.71520	-0.4568	10	0.87932	D	0	-14.1714	12.0321	0.53403	0.0:0.9153:0.0:0.0847	.	831	Q96PE2	ARHGH_HUMAN	S	831	ENSP00000263674:P831S	ENSP00000263674:P831S	P	+	1	0	ARHGEF17	72699822	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.761000	0.85260	1.131000	0.42111	0.556000	0.70494	CCC		PASS	0.642	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		21	72	21	72	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76869394	76869394	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:76869394G>T	ENST00000409709.3	+	9	1193	c.921G>T	c.(919-921)gtG>gtT	p.V307V	MYO7A_ENST00000409619.2_Silent_p.V296V|MYO7A_ENST00000458637.2_Silent_p.V307V|MYO7A_ENST00000409893.1_Silent_p.V307V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	307	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.V307V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCATGAAGGTGCTCATGTTCA	0.617																																						uc001oyb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(919-921)GTG>GTT		myosin VIIA isoform 1							57.0	62.0	61.0					11																	76869394		2154	4254	6408	SO:0001819	synonymous_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76869394G>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.921G>T	11.37:g.76869394G>T						MYO7A_uc010rsl.1_Silent_p.V307V|MYO7A_uc010rsm.1_Silent_p.V296V|MYO7A_uc001oyc.2_Silent_p.V307V	p.V307V	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			9	1193	+			307			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	37	c.921G>T	CCDS53683.1																																																																																				PASS	0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		16	34	16	34	---	---	---	---
GAB2	9846	broad.mit.edu	37	11	77937952	77937952	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:77937952G>T	ENST00000361507.4	-	4	851	c.766C>A	c.(766-768)Cgg>Agg	p.R256R	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Silent_p.R218R	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	256					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R256R(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GTATTGTGCCGGCTCGGCTTG	0.562																																						uc001ozh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|lung(1)	6						c.(766-768)CGG>AGG		GRB2-associated binding protein 2 isoform a							91.0	73.0	79.0					11																	77937952		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937952G>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.766C>A	11.37:g.77937952G>T						GAB2_uc001ozg.2_Silent_p.R218R	p.R256R	NM_080491	NP_536739	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	766	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		256					A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.766C>A	CCDS8259.1																																																																																				PASS	0.562	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	NM_080491		38	59	38	59	---	---	---	---
GRM5	2915	broad.mit.edu	37	11	88386499	88386499	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:88386499C>T	ENST00000305447.4	-	3	1133	c.984G>A	c.(982-984)aaG>aaA	p.K328K	GRM5_ENST00000393297.1_Silent_p.K328K|GRM5_ENST00000305432.5_Silent_p.K328K|GRM5_ENST00000418177.2_Silent_p.K328K|GRM5_ENST00000455756.2_Silent_p.K328K	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	328					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.K328K(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GAGATTGGAGCTTGATTGTGA	0.463																																						uc001pcq.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(4)|ovary(2)|lung(2)|breast(1)	9						c.(982-984)AAG>AAA		glutamate receptor, metabotropic 5 isoform a	Acamprosate(DB00659)						106.0	105.0	105.0					11																	88386499		2201	4299	6500	SO:0001819	synonymous_variant	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88386499C>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.984G>A	11.37:g.88386499C>T						GRM5_uc009yvm.2_Silent_p.K328K	p.K328K	NM_001143831	NP_001137303	P41594	GRM5_HUMAN			3	1184	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	328			Extracellular (Potential).		Q6J164	Silent	SNP	ENST00000305447.4	37	c.984G>A	CCDS44694.1																																																																																				PASS	0.463	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		17	77	17	77	---	---	---	---
TYR	7299	broad.mit.edu	37	11	88911881	88911881	+	Missense_Mutation	SNP	G	G	A	rs199500520		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:88911881G>A	ENST00000263321.5	+	1	1262	c.760G>A	c.(760-762)Ggt>Agt	p.G254S	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	254					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process from tyrosine (GO:0006583)|thymus development (GO:0048538)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)	copper ion binding (GO:0005507)|monophenol monooxygenase activity (GO:0004503)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G254S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|Monobenzone(DB00600)	GTACATGGGAGGTCAGCACCC	0.458																																						uc001pcs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(760-762)GGT>AGT		tyrosinase precursor	Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)						121.0	102.0	108.0					11																	88911881		2201	4299	6500	SO:0001583	missense	7299	Oculocutaneous_Albinism			eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	g.chr11:88911881G>A	M27160	CCDS8284.1	11q14.3	2013-09-27	2012-09-28		ENSG00000077498	ENSG00000077498	1.14.18.1		12442	protein-coding gene	gene with protein product	"""oculocutaneous albinism IA"""	606933					Standard	NM_000372		Approved	OCAIA, OCA1A, OCA1	uc001pcs.3	P14679	OTTHUMG00000167294	ENST00000263321.5:c.760G>A	11.37:g.88911881G>A	ENSP00000263321:p.Gly254Ser						p.G254S	NM_000372	NP_000363	P14679	TYRO_HUMAN			1	842	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)	254			Lumenal, melanosome (Potential).		Q15675|Q15676|Q15680|Q8TAK4|Q9BYY0|Q9BZX1	Missense_Mutation	SNP	ENST00000263321.5	37	c.760G>A	CCDS8284.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611911	0.66558	.	.	ENSG00000077498	ENST00000263321	D	0.98666	-5.06	6.07	6.07	0.98685	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.296128	0.41938	D	0.000793	D	0.99070	0.9681	M	0.77820	2.39	0.53688	D	0.99997	D	0.57899	0.981	D	0.66084	0.941	D	0.99239	1.0884	9	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	254	P14679	TYRO_HUMAN	S	254	ENSP00000263321:G254S	.	G	+	1	0	TYR	88551529	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	6.179000	0.71974	2.885000	0.99019	0.655000	0.94253	GGT		PASS	0.458	TYR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394045.2	NM_000372		18	120	18	120	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92532543	92532543	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:92532543G>C	ENST00000298047.6	+	9	6381	c.6364G>C	c.(6364-6366)Gtc>Ctc	p.V2122L	FAT3_ENST00000409404.2_Missense_Mutation_p.V2122L|FAT3_ENST00000525166.1_Missense_Mutation_p.V1972L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2122	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V2122L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTGACCTATGTCCTGCAGGA	0.423										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(6364-6366)GTC>CTC		FAT tumor suppressor homolog 3							47.0	47.0	47.0					11																	92532543		1905	4128	6033	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92532543G>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.6364G>C	11.37:g.92532543G>C	ENSP00000298047:p.Val2122Leu	TCGA Ovarian(4;0.039)					p.V2122L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	6381	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2122			Cadherin 19.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.6364G>C		.	.	.	.	.	.	.	.	.	.	G	3.297	-0.143701	0.06627	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.01745	4.66;4.66;4.66	5.9	0.248	0.15526	.	.	.	.	.	T	0.00637	0.0021	N	0.02169	-0.655	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.48468	-0.9033	9	0.12103	T	0.63	.	0.7489	0.00987	0.2335:0.2878:0.2715:0.2072	.	2122	Q8TDW7-3	.	L	2122;2122;1972	ENSP00000298047:V2122L;ENSP00000387040:V2122L;ENSP00000432586:V1972L	ENSP00000298047:V2122L	V	+	1	0	FAT3	92172191	0.011000	0.17503	0.983000	0.44433	0.964000	0.63967	0.949000	0.29109	0.412000	0.25729	-0.136000	0.14681	GTC		PASS	0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	27	3	27	---	---	---	---
ANKRD49	54851	broad.mit.edu	37	11	94231407	94231407	+	Silent	SNP	G	G	C	rs200769786		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:94231407G>C	ENST00000544612.1	+	3	926	c.429G>C	c.(427-429)acG>acC	p.T143T	ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Silent_p.T143T|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	143					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)		p.T143T(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGGCTGGACGCCCCTGCACA	0.507																																					Melanoma(113;823 1621 4352 9582 22033)	uc001pew.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(427-429)ACG>ACC		fetal globin inducing factor							112.0	101.0	104.0					11																	94231407		2201	4298	6499	SO:0001819	synonymous_variant	54851				positive regulation of transcription, DNA-dependent			g.chr11:94231407G>C	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.429G>C	11.37:g.94231407G>C						ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	p.T143T	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN			3	568	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	143			ANK 3.		Q8NDF2|Q96JE5|Q9NXK7	Silent	SNP	ENST00000544612.1	37	c.429G>C	CCDS8300.1																																																																																				PASS	0.507	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		8	86	8	86	---	---	---	---
ANKRD49	54851	broad.mit.edu	37	11	94231411	94231411	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:94231411C>T	ENST00000544612.1	+	3	930	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Silent_p.L145L|ANKRD49_ENST00000538535.1_3'UTR	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	145					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)		p.L145L(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTGGACGCCCCTGCACAGTGC	0.498																																					Melanoma(113;823 1621 4352 9582 22033)	uc001pew.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(433-435)CTG>TTG		fetal globin inducing factor							110.0	99.0	103.0					11																	94231411		2201	4298	6499	SO:0001819	synonymous_variant	54851				positive regulation of transcription, DNA-dependent			g.chr11:94231411C>T	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		ENST00000544612.1:c.433C>T	11.37:g.94231411C>T						ANKRD49_uc001pex.2_3'UTR|ANKRD49_uc001pey.2_RNA	p.L145L	NM_017704	NP_060174	Q8WVL7	ANR49_HUMAN			3	572	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	145			ANK 3.		Q8NDF2|Q96JE5|Q9NXK7	Silent	SNP	ENST00000544612.1	37	c.433C>T	CCDS8300.1																																																																																				PASS	0.498	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	NM_017704		7	86	7	86	---	---	---	---
TMEM123	114908	broad.mit.edu	37	11	102272392	102272392	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:102272392T>C	ENST00000398136.2	-	4	900	c.480A>G	c.(478-480)aaA>aaG	p.K160K	TMEM123_ENST00000361236.3_Silent_p.K141K|TMEM123_ENST00000525577.1_5'Flank|TMEM123_ENST00000532161.1_Silent_p.K72K	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	160					oncosis (GO:0070267)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.K160K(1)		breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		ATTTTGATCCTTTCTTTGCTT	0.308																																						uc001pha.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(478-480)AAA>AAG		transmembrane protein 123 precursor							84.0	79.0	81.0					11																	102272392		1804	4075	5879	SO:0001819	synonymous_variant	114908				oncosis	external side of plasma membrane|integral to membrane	receptor activity	g.chr11:102272392T>C	AL050161	CCDS41702.1	11q22.1	2014-01-02			ENSG00000152558	ENSG00000152558			30138	protein-coding gene	gene with protein product	"""pro oncosis receptor inducing membrane injury gene"""	606356				11481458, 24318988	Standard	NM_052932		Approved	PORIMIN, KCT3	uc001pha.3	Q8N131	OTTHUMG00000167326	ENST00000398136.2:c.480A>G	11.37:g.102272392T>C						TMEM123_uc009yxc.2_Silent_p.K141K	p.K160K	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)	4	901	-	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	160			Extracellular (Potential).		Q8IWS2|Q96QV2	Silent	SNP	ENST00000398136.2	37	c.480A>G	CCDS41702.1																																																																																				PASS	0.308	TMEM123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394178.1	NM_052932		18	105	18	105	---	---	---	---
DRD2	1813	broad.mit.edu	37	11	113283559	113283559	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:113283559C>T	ENST00000362072.3	-	7	1201	c.857G>A	c.(856-858)aGc>aAc	p.S286N	DRD2_ENST00000538967.1_Missense_Mutation_p.S288N|DRD2_ENST00000355319.2_Missense_Mutation_p.S288N|RP11-159N11.3_ENST00000546284.1_RNA|DRD2_ENST00000535984.1_5'Flank|DRD2_ENST00000542968.1_Missense_Mutation_p.S286N|DRD2_ENST00000544518.1_Missense_Mutation_p.S285N|DRD2_ENST00000346454.3_Missense_Mutation_p.S257N	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	286	Interaction with PPP1R9B. {ECO:0000250}.				activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|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)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)	p.S286N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGGCTGGTGCTGGAGAGCAT	0.667																																						uc001pnz.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(856-858)AGC>AAC		dopamine receptor D2 isoform long	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)						36.0	36.0	36.0					11																	113283559		2201	4295	6496	SO:0001583	missense	1813				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	g.chr11:113283559C>T	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.857G>A	11.37:g.113283559C>T	ENSP00000354859:p.Ser286Asn					DRD2_uc010rwv.1_Missense_Mutation_p.S285N|DRD2_uc001poa.3_Missense_Mutation_p.S286N|DRD2_uc001pob.3_Missense_Mutation_p.S257N	p.S286N	NM_000795	NP_000786	P14416	DRD2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	6	1178	-		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)	286			Cytoplasmic (By similarity).|Interaction with PPP1R9B (By similarity).		Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	37	c.857G>A	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	15.55	2.867277	0.51588	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967	T;T;T;T;T;T	0.72505	-0.63;-0.63;-0.62;-0.66;-0.62;-0.63	5.73	5.73	0.89815	GPCR, rhodopsin-like superfamily (1);	0.115927	0.85682	D	0.000000	T	0.63094	0.2482	L	0.33624	1.015	0.58432	D	0.999992	B;B;B	0.13145	0.004;0.007;0.005	B;B;B	0.17979	0.013;0.007;0.02	T	0.56032	-0.8046	10	0.20046	T	0.44	.	19.9025	0.96993	0.0:1.0:0.0:0.0	.	285;257;286	F8VUV1;P14416-2;P14416	.;.;DRD2_HUMAN	N	288;257;286;285;286;288	ENSP00000347474:S288N;ENSP00000278597:S257N;ENSP00000354859:S286N;ENSP00000441068:S285N;ENSP00000442172:S286N;ENSP00000438215:S288N	ENSP00000278597:S257N	S	-	2	0	DRD2	112788769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.185000	0.58330	2.722000	0.93159	0.655000	0.94253	AGC		PASS	0.667	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795		19	27	19	27	---	---	---	---
NXPE1	120400	broad.mit.edu	37	11	114401156	114401156	+	Missense_Mutation	SNP	G	G	T	rs368015573		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:114401156G>T	ENST00000424269.1	-	2	573	c.574C>A	c.(574-576)Ctc>Atc	p.L192I	NXPE1_ENST00000536312.1_Missense_Mutation_p.L192I|NXPE1_ENST00000536271.1_5'Flank|NXPE1_ENST00000251921.2_Missense_Mutation_p.L50I			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	192						extracellular region (GO:0005576)		p.L50I(1)									GCCCTCCAGAGAGCCGACGCC	0.507																																						uc001ppa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(148-150)CTC>ATC		hypothetical protein LOC120400							76.0	79.0	78.0					11																	114401156		2201	4296	6497	SO:0001583	missense	120400					extracellular region		g.chr11:114401156G>T	BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.574C>A	11.37:g.114401156G>T	ENSP00000411690:p.Leu192Ile					FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.L192I	p.L50I	NM_152315	NP_689528	Q8N323	FA55A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)	3	565	-		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)	192					B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37	c.148C>A		.	.	.	.	.	.	.	.	.	.	G	17.99	3.522027	0.64747	.	.	ENSG00000095110	ENST00000251921;ENST00000424269;ENST00000536312	T;T;T	0.70282	1.63;1.64;-0.47	4.42	4.42	0.53409	.	0.000000	0.45867	D	0.000325	D	0.84079	0.5393	M	0.89658	3.05	0.30363	N	0.78363	D	0.71674	0.998	D	0.72075	0.976	T	0.82045	-0.0652	10	0.48119	T	0.1	.	9.0286	0.36245	0.1046:0.0:0.8954:0.0	.	192	F5H6W7	.	I	50;192;192	ENSP00000251921:L50I;ENSP00000411690:L192I;ENSP00000442984:L192I	ENSP00000251921:L50I	L	-	1	0	FAM55A	113906366	1.000000	0.71417	0.950000	0.38849	0.749000	0.42624	3.383000	0.52471	2.379000	0.81126	0.655000	0.94253	CTC		PASS	0.507	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315		40	60	40	60	---	---	---	---
OR6M1	390261	broad.mit.edu	37	11	123676935	123676935	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:123676935G>T	ENST00000309154.2	-	1	160	c.123C>A	c.(121-123)atC>atA	p.I41I		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I41I(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGATGATGGTGATGTTTCCTG	0.423																																						uc010rzz.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(121-123)ATC>ATA		olfactory receptor, family 6, subfamily M,							153.0	132.0	139.0					11																	123676935		2202	4299	6501	SO:0001819	synonymous_variant	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676935G>T	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.123C>A	11.37:g.123676935G>T							p.I41I	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	123	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	41			Helical; Name=1; (Potential).		B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	c.123C>A	CCDS31696.1																																																																																				PASS	0.423	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1	NM_001005325		22	109	22	109	---	---	---	---
OR4D5	219875	broad.mit.edu	37	11	123810615	123810615	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:123810615C>A	ENST00000307033.2	+	1	366	c.292C>A	c.(292-294)Ctg>Atg	p.L98M		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L98M(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTGGATGCCTGACTCAACT	0.493																																						uc001pzk.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(292-294)CTG>ATG		olfactory receptor, family 4, subfamily D,							139.0	116.0	124.0					11																	123810615		2202	4299	6501	SO:0001583	missense	219875				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123810615C>A	BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.292C>A	11.37:g.123810615C>A	ENSP00000305970:p.Leu98Met						p.L98M	NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	292	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	98			Extracellular (Potential).		B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	c.292C>A	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.701205	0.00725	.	.	ENSG00000171014	ENST00000307033	T	0.00372	7.73	5.5	2.4	0.29515	GPCR, rhodopsin-like superfamily (1);	0.191239	0.25146	N	0.032786	T	0.00109	0.0003	N	0.03224	-0.385	0.20489	N	0.999891	B	0.25904	0.137	B	0.22753	0.041	T	0.27468	-1.0073	10	0.02654	T	1	-7.1879	8.3321	0.32193	0.0:0.6474:0.1943:0.1583	.	98	Q8NGN0	OR4D5_HUMAN	M	98	ENSP00000305970:L98M	ENSP00000305970:L98M	L	+	1	2	OR4D5	123315825	0.000000	0.05858	0.996000	0.52242	0.566000	0.35808	-2.220000	0.01217	0.663000	0.31027	0.655000	0.94253	CTG		PASS	0.493	OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965		16	97	16	97	---	---	---	---
OR6T1	219874	broad.mit.edu	37	11	123813951	123813952	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:123813951_123813952CC>AA	ENST00000321252.2	-	1	628_629	c.594_595GG>TT	c.(592-597)gtGGct>gtTTct	p.A199S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A199S(2)|p.V198V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		AGCATGAAAGCCACCAGTTTCA	0.55																																						uc010sab.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)	1						c.(595-597)GCT>TCT|c.(592-594)GTG>GTT		olfactory receptor, family 6, subfamily T,																																				SO:0001583	missense	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813951C>A|g.chr11:123813952C>A	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.594_595delinsAA	11.37:g.123813951_123813952delinsAA	ENSP00000325203:p.Ala199Ser						p.A199S|p.V198V	NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	595|594	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	199|198			Helical; Name=5; (Potential).		Q6IFE7	Missense_Mutation|Silent	SNP	ENST00000321252.2	37	c.595G>T|c.594G>T	CCDS31700.1																																																																																				PASS	0.550	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	NM_001005187		32	61|60	32	60	---	---	---	---
OR10G9	219870	broad.mit.edu	37	11	123894397	123894397	+	Silent	SNP	G	G	T	rs139365025	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:123894397G>T	ENST00000375024.1	+	1	678	c.678G>T	c.(676-678)cgG>cgT	p.R226R		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R226R(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		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;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCATCCTGCGGATCCACACCT	0.522													G|||	2	0.000399361	0.0	0.0	5008	,	,		19279	0.0		0.002	False		,,,				2504	0.0					uc010sad.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)	2						c.(676-678)CGG>CGT		olfactory receptor, family 10, subfamily G,		G		2,4400	4.2+/-10.8	0,2,2199	170.0	146.0	154.0		678	3.4	1.0	11	dbSNP_134	154	21,8577	15.3+/-51.7	0,21,4278	no	coding-synonymous	OR10G9	NM_001001953.1		0,23,6477	TT,TG,GG		0.2442,0.0454,0.1769		226/312	123894397	23,12977	2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894397G>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.678G>T	11.37:g.123894397G>T							p.R226R	NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	678	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	226			Cytoplasmic (Potential).			Silent	SNP	ENST00000375024.1	37	c.678G>T	CCDS31703.1																																																																																				PASS	0.522	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		27	62	27	62	---	---	---	---
OR8A1	390275	broad.mit.edu	37	11	124440904	124440904	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:124440904A>G	ENST00000284287.3	+	1	1012	c.940A>G	c.(940-942)Aag>Gag	p.K314E		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	314					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K314E(1)		haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		CAAGGAAGTAAAGGCTGCCGT	0.428																																						uc010san.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(940-942)AAG>GAG		olfactory receptor, family 8, subfamily A,							68.0	62.0	64.0					11																	124440904		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440904A>G	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.940A>G	11.37:g.124440904A>G	ENSP00000284287:p.Lys314Glu						p.K314E	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	940	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	314			Cytoplasmic (Potential).		Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.940A>G	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	A	8.419	0.846018	0.16963	.	.	ENSG00000196119	ENST00000284287	T	0.41065	1.01	5.1	5.1	0.69264	.	0.139759	0.32401	N	0.006153	T	0.69415	0.3108	H	0.95745	3.715	0.09310	N	1	D	0.59767	0.986	P	0.59487	0.858	T	0.69771	-0.5055	10	0.87932	D	0	.	11.412	0.49931	0.8491:0.1509:0.0:0.0	.	314	Q8NGG7	OR8A1_HUMAN	E	314	ENSP00000284287:K314E	ENSP00000284287:K314E	K	+	1	0	OR8A1	123946114	0.003000	0.15002	0.207000	0.23584	0.027000	0.11550	1.153000	0.31676	2.128000	0.65567	0.528000	0.53228	AAG		PASS	0.428	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194		23	54	23	54	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124748011	124748011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:124748011G>A	ENST00000397801.1	+	21	3357	c.3165G>A	c.(3163-3165)tgG>tgA	p.W1055*	ROBO3_ENST00000538940.1_Nonsense_Mutation_p.W1033*|ROBO3_ENST00000543966.1_5'UTR|ROBO3_ENST00000525482.1_3'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1055					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)		p.W1055*(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		CTCCAGAGTGGAGCCAGGGGG	0.617																																						uc001qbc.2																			1	Substitution - Nonsense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(3163-3165)TGG>TGA		roundabout, axon guidance receptor, homolog 3							22.0	25.0	24.0					11																	124748011		1970	4132	6102	SO:0001587	stop_gained	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124748011G>A	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3165G>A	11.37:g.124748011G>A	ENSP00000380903:p.Trp1055*					ROBO3_uc010saq.1_3'UTR|ROBO3_uc001qbd.2_5'UTR|ROBO3_uc010sar.1_Nonsense_Mutation_p.W104*|ROBO3_uc001qbe.2_5'UTR|ROBO3_uc001qbf.1_5'UTR	p.W1055*	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	21	3357	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1055			Cytoplasmic (Potential).			Nonsense_Mutation	SNP	ENST00000397801.1	37	c.3165G>A	CCDS44755.1	.	.	.	.	.	.	.	.	.	.	G	42	9.809199	0.99270	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	.	.	.	4.87	4.87	0.63330	.	0.000000	0.36815	N	0.002390	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	10.8939	0.47010	0.0865:0.0:0.9135:0.0	.	.	.	.	X	1055;1033	.	ENSP00000380903:W1055X	W	+	3	0	ROBO3	124253221	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.750000	0.47500	2.524000	0.85096	0.655000	0.94253	TGG		PASS	0.617	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		6	15	6	15	---	---	---	---
CCDC15	80071	broad.mit.edu	37	11	124908348	124908348	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:124908348A>T	ENST00000344762.5	+	14	2692	c.2433A>T	c.(2431-2433)caA>caT	p.Q811H	CCDC15_ENST00000530061.1_3'UTR|CCDC15_ENST00000529051.1_Missense_Mutation_p.Q811H	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	811						centrosome (GO:0005813)		p.Q811H(1)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AGAGAGAGCAAGAATGTTATG	0.318																																						uc001qbm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2431-2433)CAA>CAT		coiled-coil domain containing 15							33.0	29.0	30.0					11																	124908348		1798	4066	5864	SO:0001583	missense	80071					centrosome		g.chr11:124908348A>T	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.2433A>T	11.37:g.124908348A>T	ENSP00000341684:p.Gln811His						p.Q811H	NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	14	2692	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	811			Potential.		Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.2433A>T	CCDS44756.1	.	.	.	.	.	.	.	.	.	.	A	14.96	2.690422	0.48097	.	.	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.35048	1.33;1.34	5.0	-0.776	0.10984	.	.	.	.	.	T	0.40909	0.1136	L	0.38531	1.155	0.23501	N	0.997546	D	0.89917	1.0	D	0.70935	0.971	T	0.39057	-0.9632	9	0.13108	T	0.6	-9.879	9.4505	0.38723	0.6298:0.0:0.3702:0.0	.	811	Q0P6D6	CCD15_HUMAN	H	811	ENSP00000435403:Q811H;ENSP00000341684:Q811H	ENSP00000341684:Q811H	Q	+	3	2	CCDC15	124413558	0.965000	0.33210	0.945000	0.38365	0.918000	0.54935	0.318000	0.19504	-0.092000	0.12417	-0.456000	0.05471	CAA		PASS	0.318	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		3	13	3	13	---	---	---	---
ACRV1	56	broad.mit.edu	37	11	125548074	125548074	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:125548074C>G	ENST00000533904.1	-	2	513	c.171G>C	c.(169-171)gaG>gaC	p.E57D	ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000530048.1_Intron|ACRV1_ENST00000348856.3_Intron|ACRV1_ENST00000345274.1_Intron|ACRV1_ENST00000453509.1_Intron|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000315608.3_Missense_Mutation_p.E57D|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000527795.1_Intron			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	57					multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.E57D(1)		kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CTGAAGAAGTCTCATATAAAG	0.458																																						uc001qcs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)GAG>GAC		acrosomal vesicle protein 1 isoform a precursor							70.0	64.0	66.0					11																	125548074		2201	4299	6500	SO:0001583	missense	56				multicellular organismal development	acrosomal vesicle		g.chr11:125548074C>G	AK223335	CCDS8460.1, CCDS8461.1, CCDS44759.1, CCDS44761.1	11q24.2	2012-05-16			ENSG00000134940	ENSG00000134940			127	protein-coding gene	gene with protein product	"""sperm protein 10"""	102525				1693291, 8288254	Standard	NM_001612		Approved	SPACA2, SP-10, D11S4365	uc001qcs.3	P26436	OTTHUMG00000165854	ENST00000533904.1:c.171G>C	11.37:g.125548074C>G	ENSP00000432816:p.Glu57Asp					ACRV1_uc001qck.2_Intron|ACRV1_uc001qcl.2_Intron|ACRV1_uc001qcm.2_Intron|ACRV1_uc001qcn.2_Intron|ACRV1_uc001qco.2_Intron|ACRV1_uc001qcp.2_Intron|ACRV1_uc001qcq.2_Intron|ACRV1_uc001qcr.2_Missense_Mutation_p.E57D	p.E57D	NM_001612	NP_001603	P26436	ASPX_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)	2	438	-	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	57					Q53FF4	Missense_Mutation	SNP	ENST00000533904.1	37	c.171G>C	CCDS8460.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.539947	0.45176	.	.	ENSG00000134940	ENST00000533904;ENST00000433875;ENST00000315608	T;T;T	0.23552	1.9;1.99;1.99	4.04	1.03	0.20045	.	0.610312	0.15610	N	0.253401	T	0.39911	0.1096	M	0.62209	1.925	0.58432	D	0.99999	D;B	0.71674	0.998;0.233	D;B	0.77557	0.99;0.137	T	0.17018	-1.0383	10	0.35671	T	0.21	-12.7136	5.5454	0.17061	0.0:0.6339:0.1657:0.2004	.	57;57	P26436;P26436-2	ASPX_HUMAN;.	D	57	ENSP00000432816:E57D;ENSP00000407846:E57D;ENSP00000317684:E57D	ENSP00000317684:E57D	E	-	3	2	ACRV1	125053284	0.012000	0.17670	0.181000	0.23098	0.684000	0.39900	-0.350000	0.07721	0.228000	0.21019	0.655000	0.94253	GAG		PASS	0.458	ACRV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386722.1	NM_001612		29	43	29	43	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129802064	129802064	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:129802064C>A	ENST00000360871.3	-	10	1451	c.1220G>T	c.(1219-1221)cGt>cTt	p.R407L	PRDM10_ENST00000526082.1_Missense_Mutation_p.R321L|PRDM10_ENST00000528746.1_Missense_Mutation_p.R381L|PRDM10_ENST00000423662.2_Missense_Mutation_p.R321L|PRDM10_ENST00000358825.5_Missense_Mutation_p.R407L|PRDM10_ENST00000304538.6_Missense_Mutation_p.R321L	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	407					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.R407L(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTTGGAGGACGCCCCGGCCG	0.572																																						uc001qfm.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1219-1221)CGT>CTT		PR domain containing 10 isoform 1							125.0	106.0	113.0					11																	129802064		2201	4297	6498	SO:0001583	missense	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129802064C>A	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.1220G>T	11.37:g.129802064C>A	ENSP00000354118:p.Arg407Leu					PRDM10_uc001qfj.2_Missense_Mutation_p.R321L|PRDM10_uc001qfk.2_Missense_Mutation_p.R321L|PRDM10_uc001qfl.2_Missense_Mutation_p.R321L|PRDM10_uc010sbx.1_Missense_Mutation_p.R321L|PRDM10_uc001qfn.2_Missense_Mutation_p.R407L|PRDM10_uc009zct.1_Missense_Mutation_p.R439L	p.R407L	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	10	1452	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	407					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	c.1220G>T	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	c	34	5.375180	0.95923	.	.	ENSG00000170325	ENST00000358825;ENST00000304538;ENST00000360871;ENST00000423662;ENST00000528746;ENST00000526082;ENST00000533431	T;T;T;T;T;T;T	0.18960	2.18;2.58;2.45;2.19;2.52;2.18;2.58	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.38241	0.1033	L	0.32530	0.975	0.80722	D	1	P;D;P;D;P;D;P	0.71674	0.515;0.998;0.647;0.997;0.647;0.996;0.647	B;D;B;D;B;D;B	0.80764	0.141;0.994;0.274;0.987;0.274;0.992;0.274	T	0.10847	-1.0612	10	0.62326	D	0.03	-21.3694	19.0466	0.93022	0.0:1.0:0.0:0.0	.	321;407;407;407;321;321;321	B7ZL72;Q9NQV6-4;G3XAE5;Q9NQV6;Q9NQV6-5;Q9NQV6-2;Q9NQV6-1	.;.;.;PRD10_HUMAN;.;.;.	L	407;321;407;321;381;321;124	ENSP00000351686:R407L;ENSP00000302669:R321L;ENSP00000354118:R407L;ENSP00000398431:R321L;ENSP00000431262:R381L;ENSP00000432237:R321L;ENSP00000435940:R124L	ENSP00000302669:R321L	R	-	2	0	PRDM10	129307274	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.202000	0.77856	2.677000	0.91161	0.586000	0.80456	CGT		PASS	0.572	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		3	77	3	77	---	---	---	---
FBXL14	144699	broad.mit.edu	37	12	1702723	1702723	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:1702723G>T	ENST00000339235.3	-	1	608	c.510C>A	c.(508-510)cgC>cgA	p.R170R	WNT5B_ENST00000537031.1_Intron|FBXL14_ENST00000543278.1_5'Flank	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	170					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)	p.R170R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			GGCTCTTGAGGCGCTGCAGAC	0.667																																						uc001qjh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(508-510)CGC>CGA		F-box and leucine-rich repeat protein 14							42.0	35.0	38.0					12																	1702723		2203	4300	6503	SO:0001819	synonymous_variant	144699					cytoplasm		g.chr12:1702723G>T	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.510C>A	12.37:g.1702723G>T						WNT5B_uc009zdq.2_Intron|FBXL14_uc001qji.2_Silent_p.R82R	p.R170R	NM_152441	NP_689654	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	609	-	Ovarian(42;0.107)		170			LRR 2.			Silent	SNP	ENST00000339235.3	37	c.510C>A	CCDS8509.1																																																																																				PASS	0.667	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		10	24	10	24	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1992086	1992086	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:1992086C>G	ENST00000382722.5	-	13	1794	c.1432G>C	c.(1432-1434)Gtc>Ctc	p.V478L	CACNA2D4_ENST00000586184.1_Missense_Mutation_p.V478L|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.V478L|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.V414L|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.V363L|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.V414L	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	478					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.V478L(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGGTTGATGACCATGGGGCGG	0.607																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1432-1434)GTC>CTC		voltage-gated calcium channel alpha(2)delta-4							83.0	88.0	86.0					12																	1992086		2146	4250	6396	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1992086C>G	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.1432G>C	12.37:g.1992086C>G	ENSP00000372169:p.Val478Leu					CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Missense_Mutation_p.V366L	p.V478L	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	13	1663	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	478			Extracellular (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.1432G>C	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148619	0.94603	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	T	0.10192	2.9	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.32530	0.975	0.80722	D	1	B;D	0.89917	0.198;1.0	B;D	0.80764	0.234;0.994	T	0.01432	-1.1356	10	0.87932	D	0	.	18.9435	0.92612	0.0:1.0:0.0:0.0	.	478;478	Q7Z3S7-2;Q7Z3S7	.;CA2D4_HUMAN	L	414;478;478	ENSP00000372169:V478L	ENSP00000280663:V478L	V	-	1	0	CACNA2D4	1862347	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.487000	0.81328	2.457000	0.83068	0.462000	0.41574	GTC		PASS	0.607	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			14	30	14	30	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2788654	2788654	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:2788654C>A	ENST00000347598.4	+	44	5280	c.5280C>A	c.(5278-5280)agC>agA	p.S1760R	CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1712R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1712R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1712R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1731R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1720R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S1753R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1729R|CACNA1C_ENST00000399655.1_Missense_Mutation_p.S1712R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1740R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1712R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S1737R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S1732R|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S1712R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S1731R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1718R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S1712R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S1712R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1712R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1720R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S1731R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1712R	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1760					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S1790R(1)|p.S1753R(1)|p.S1247R(1)|p.S1712R(1)|p.S1760R(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTACCAAAGCGACGGCCGGA	0.657																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(5278-5280)AGC>AGA		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						23.0	28.0	26.0					12																	2788654		2032	4163	6195	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2788654C>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5280C>A	12.37:g.2788654C>A	ENSP00000266376:p.Ser1760Arg					CACNA1C_uc009zdv.1_Missense_Mutation_p.S1709R|CACNA1C_uc001qkb.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qkc.2_Missense_Mutation_p.S1731R|CACNA1C_uc001qke.2_Missense_Mutation_p.S1701R|CACNA1C_uc001qkf.2_Missense_Mutation_p.S1720R|CACNA1C_uc001qjz.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qkd.2_Missense_Mutation_p.S1731R|CACNA1C_uc001qkg.2_Missense_Mutation_p.S1718R|CACNA1C_uc009zdw.1_Missense_Mutation_p.S1753R|CACNA1C_uc001qkh.2_Missense_Mutation_p.S1720R|CACNA1C_uc001qkl.2_Missense_Mutation_p.S1760R|CACNA1C_uc001qkn.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qko.2_Missense_Mutation_p.S1732R|CACNA1C_uc001qkp.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qkr.2_Missense_Mutation_p.S1729R|CACNA1C_uc001qku.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qkq.2_Missense_Mutation_p.S1740R|CACNA1C_uc001qks.2_Missense_Mutation_p.S1712R|CACNA1C_uc001qkt.2_Missense_Mutation_p.S1731R|CACNA1C_uc001qki.1_Missense_Mutation_p.S1448R|CACNA1C_uc001qkj.1_Missense_Mutation_p.S1448R|CACNA1C_uc001qkk.1_Missense_Mutation_p.S1448R|CACNA1C_uc001qkm.1_Missense_Mutation_p.S1437R|CACNA1C_uc010sea.1_Missense_Mutation_p.S403R|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.S30R	p.S1760R	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	44	5593	+			1760			Cytoplasmic (Potential).		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.5280C>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882382	0.33255	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96365	-3.93;-3.93;-3.93;-3.92;-3.93;-3.95;-3.84;-3.88;-3.93;-3.85;-3.85;-3.93;-3.98;-3.84;-3.78;-3.99;-3.94;-3.93;-3.94;-3.87;-3.94;-3.99	4.64	1.76	0.24704	.	0.776612	0.12526	N	0.461237	D	0.96531	0.8868	M	0.62016	1.91	0.51767	D	0.999931	D;D;D;D;D;D;D;D;P;B;D;D;D;D;D;D;D;B;D;B;D;D;D;D;D	0.89917	0.985;1.0;1.0;0.997;0.999;1.0;1.0;1.0;0.952;0.275;1.0;1.0;0.971;0.999;0.999;0.999;0.999;0.051;1.0;0.01;1.0;1.0;1.0;1.0;1.0	P;D;D;P;D;D;D;D;P;B;D;D;P;D;D;D;D;B;D;B;D;D;D;D;D	0.87578	0.837;0.987;0.997;0.876;0.997;0.998;0.996;0.998;0.741;0.113;0.998;0.995;0.828;0.998;0.992;0.997;0.994;0.176;0.998;0.01;0.973;0.998;0.998;0.998;0.997	D	0.92160	0.5735	10	0.13470	T	0.59	.	7.0266	0.24944	0.0:0.4537:0.0:0.5463	.	403;1753;1709;1760;1712;1731;1712;1729;1740;1712;1732;1712;1672;1760;1712;1712;1712;1720;1718;1720;1701;1731;1731;1712;1712	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	R	1737;1712;1712;1740;1712;1731;1731;1720;1712;1760;1732;1712;1753;1729;1712;1718;1731;1712;1712;1712;1712;1720;1542	ENSP00000336982:S1737R;ENSP00000382563:S1712R;ENSP00000382552:S1712R;ENSP00000382547:S1740R;ENSP00000382506:S1712R;ENSP00000382530:S1731R;ENSP00000382546:S1731R;ENSP00000382500:S1720R;ENSP00000382549:S1712R;ENSP00000266376:S1760R;ENSP00000382515:S1732R;ENSP00000382510:S1712R;ENSP00000341092:S1753R;ENSP00000382537:S1729R;ENSP00000329877:S1712R;ENSP00000382557:S1718R;ENSP00000385724:S1731R;ENSP00000382512:S1712R;ENSP00000382542:S1712R;ENSP00000382526:S1712R;ENSP00000385896:S1712R;ENSP00000382504:S1720R	ENSP00000323129:S1542R	S	+	3	2	CACNA1C	2658915	0.092000	0.21681	0.999000	0.59377	0.874000	0.50279	-0.554000	0.06006	0.177000	0.19895	-0.657000	0.03884	AGC		PASS	0.657	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		7	10	7	10	---	---	---	---
FGF23	8074	broad.mit.edu	37	12	4479738	4479738	+	Missense_Mutation	SNP	C	C	T	rs104894347		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:4479738C>T	ENST00000237837.1	-	3	672	c.527G>A	c.(526-528)cGg>cAg	p.R176Q		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	176			R -> Q (in ADHR; partially resistant to cleavage by furin). {ECO:0000269|PubMed:11062477}.		cell differentiation (GO:0030154)|cellular phosphate ion homeostasis (GO:0030643)|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)|insulin receptor signaling pathway (GO:0008286)|negative regulation of bone mineralization (GO:0030502)|negative regulation of hormone secretion (GO:0046888)|negative regulation of osteoblast differentiation (GO:0045668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphate ion homeostasis (GO:0055062)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|regulation of phosphate transport (GO:0010966)|vitamin D catabolic process (GO:0042369)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.R176Q(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CCGGGTGTGCCGCCGTGGTAT	0.672																																						uc001qmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|skin(1)	4	GRCh37	CM002776	FGF23	M	rs104894347	c.(526-528)CGG>CAG		fibroblast growth factor 23 precursor							32.0	37.0	35.0					12																	4479738		2203	4299	6502	SO:0001583	missense	8074				cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	g.chr12:4479738C>T	AF263537	CCDS8526.1	12p13	2008-07-04			ENSG00000118972	ENSG00000118972			3680	protein-coding gene	gene with protein product		605380				11032749, 18310961	Standard	NM_020638		Approved		uc001qmq.1	Q9GZV9	OTTHUMG00000168241	ENST00000237837.1:c.527G>A	12.37:g.4479738C>T	ENSP00000237837:p.Arg176Gln						p.R176Q	NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)		3	673	-			176		R -> Q (in ADHR; partially resistant to cleavage by furin).			Q4V758	Missense_Mutation	SNP	ENST00000237837.1	37	c.527G>A	CCDS8526.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234286	0.58886	.	.	ENSG00000118972	ENST00000237837	D	0.88818	-2.43	4.94	4.94	0.65067	.	0.066473	0.64402	D	0.000016	D	0.91040	0.7181	L	0.34521	1.04	0.35506	A	0.800226	D	0.89917	1.0	D	0.87578	0.998	D	0.90494	0.4469	9	0.38643	T	0.18	-19.7981	16.5206	0.84315	0.0:1.0:0.0:0.0	.	176	Q9GZV9	FGF23_HUMAN	Q	176	ENSP00000237837:R176Q	ENSP00000237837:R176Q	R	-	2	0	FGF23	4349999	1.000000	0.71417	0.912000	0.35992	0.004000	0.04260	5.010000	0.64004	2.562000	0.86427	0.549000	0.68633	CGG		PASS	0.672	FGF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398936.1			12	79	12	79	---	---	---	---
PEX5	5830	broad.mit.edu	37	12	7355220	7355220	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:7355220G>A	ENST00000455147.2	+	10	1346	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	PEX5_ENST00000420616.2_Missense_Mutation_p.A256T|PEX5_ENST00000266563.5_Missense_Mutation_p.A219T|PEX5_ENST00000412720.2_Missense_Mutation_p.A277T|PEX5_ENST00000434354.2_Missense_Mutation_p.A271T|PEX5_ENST00000266564.3_Missense_Mutation_p.A256T	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	256					cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)	p.A256T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TACATCAGATGCCTGGGTTGA	0.478																																						uc009zfu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(766-768)GCC>ACC		peroxisomal biogenesis factor 5 isoform d							142.0	110.0	121.0					12																	7355220		2203	4300	6503	SO:0001583	missense	5830				protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding	g.chr12:7355220G>A	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.766G>A	12.37:g.7355220G>A	ENSP00000400647:p.Ala256Thr					PEX5_uc001qsw.2_Missense_Mutation_p.A256T|PEX5_uc010sgc.1_Missense_Mutation_p.A271T|PEX5_uc001qsu.2_Missense_Mutation_p.A219T|PEX5_uc010sgd.1_Missense_Mutation_p.A277T|PEX5_uc001qsv.2_Missense_Mutation_p.A256T	p.A256T	NM_001131026	NP_001124498	P50542	PEX5_HUMAN			10	1346	+			256					A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	c.766G>A	CCDS44823.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551555	0.65311	.	.	ENSG00000139197	ENST00000455147;ENST00000266563;ENST00000434354;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000396637;ENST00000266564	D;D;D;D;D;D;D	0.88201	-2.33;-2.26;-2.35;-2.33;-2.33;-2.18;-2.33	5.61	5.61	0.85477	.	0.191083	0.46145	D	0.000306	D	0.83394	0.5245	N	0.22421	0.69	0.53688	D	0.999978	P;B;B;B;P	0.46512	0.879;0.141;0.073;0.24;0.637	B;B;B;B;B	0.42593	0.392;0.067;0.035;0.099;0.312	T	0.82190	-0.0580	10	0.25106	T	0.35	.	17.8184	0.88642	0.0:0.0:1.0:0.0	.	277;271;256;256;219	B4E0T2;B4DZ45;P50542;P50542-3;P50542-2	.;.;PEX5_HUMAN;.;.	T	256;219;271;207;256;277;234;256	ENSP00000400647:A256T;ENSP00000266563:A219T;ENSP00000407401:A271T;ENSP00000410159:A256T;ENSP00000391601:A277T;ENSP00000379877:A234T;ENSP00000266564:A256T	ENSP00000266563:A219T	A	+	1	0	PEX5	7246487	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	7.324000	0.79115	2.657000	0.90304	0.655000	0.94253	GCC		PASS	0.478	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319		26	46	26	46	---	---	---	---
CD163L1	283316	broad.mit.edu	37	12	7548873	7548873	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:7548873T>C	ENST00000313599.3	-	8	1925	c.1868A>G	c.(1867-1869)cAg>cGg	p.Q623R	CD163L1_ENST00000396630.1_Missense_Mutation_p.Q623R|CD163L1_ENST00000416109.2_Missense_Mutation_p.Q633R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	623	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.Q623R(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCAGTCCAGCTGGCTACACAC	0.517																																						uc001qsy.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|central_nervous_system(1)	11						c.(1867-1869)CAG>CGG		scavenger receptor cysteine-rich type 1							131.0	104.0	113.0					12																	7548873		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7548873T>C	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1868A>G	12.37:g.7548873T>C	ENSP00000315945:p.Gln623Arg					CD163L1_uc010sge.1_Missense_Mutation_p.Q633R	p.Q623R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN			8	1894	-			623			SRCR 6.|Extracellular (Potential).		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.1868A>G	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	T	14.57	2.574681	0.45902	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000545926	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	2.24	2.24	0.28232	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.47852	U	0.000217	T	0.65831	0.2729	H	0.95539	3.685	0.21325	N	0.999726	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.996	T	0.57057	-0.7876	10	0.59425	D	0.04	.	8.3484	0.32288	0.0:0.0:0.0:1.0	.	633;623	E7EVK4;Q9NR16	.;C163B_HUMAN	R	623;633;623;162	ENSP00000315945:Q623R;ENSP00000393474:Q633R;ENSP00000379871:Q623R;ENSP00000439921:Q162R	ENSP00000315945:Q623R	Q	-	2	0	CD163L1	7440140	0.994000	0.37717	0.019000	0.16419	0.218000	0.24690	2.914000	0.48797	1.258000	0.44101	0.460000	0.39030	CAG		PASS	0.517	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		17	54	17	54	---	---	---	---
GDF3	9573	broad.mit.edu	37	12	7843099	7843099	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:7843099C>A	ENST00000329913.3	-	2	517	c.470G>T	c.(469-471)gGc>gTc	p.G157V		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	157					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)	p.G157V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGTGGTCTGGCCCCACACATG	0.552																																						uc001qte.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)|lung(1)|central_nervous_system(1)	6						c.(469-471)GGC>GTC		growth differentiation factor 3 precursor							57.0	60.0	59.0					12																	7843099		2203	4300	6503	SO:0001583	missense	9573				eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	g.chr12:7843099C>A	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.470G>T	12.37:g.7843099C>A	ENSP00000331745:p.Gly157Val						p.G157V	NM_020634	NP_065685	Q9NR23	GDF3_HUMAN			2	506	-			157					Q8NEJ4	Missense_Mutation	SNP	ENST00000329913.3	37	c.470G>T	CCDS8581.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.115489	0.37339	.	.	ENSG00000184344	ENST00000329913	D	0.81996	-1.56	4.21	0.139	0.14798	Transforming growth factor-beta, N-terminal (1);	6.134060	0.01141	U	0.006201	D	0.89842	0.6832	M	0.77103	2.36	0.49687	D	0.999813	D	0.76494	0.999	D	0.71656	0.974	T	0.74121	-0.3767	10	0.59425	D	0.04	.	4.4294	0.11520	0.0:0.537:0.1658:0.2971	.	157	Q9NR23	GDF3_HUMAN	V	157	ENSP00000331745:G157V	ENSP00000331745:G157V	G	-	2	0	GDF3	7734366	0.000000	0.05858	0.001000	0.08648	0.298000	0.27526	0.167000	0.16602	-0.091000	0.12440	0.561000	0.74099	GGC		PASS	0.552	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399717.1			34	84	34	84	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13716820	13716820	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:13716820C>A	ENST00000609686.1	-	13	3561	c.3352G>T	c.(3352-3354)Gac>Tac	p.D1118Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1118					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.D1118Y(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CGCTTGTGGTCAGGGGAGCGG	0.607																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3352-3354)GAC>TAC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						76.0	72.0	73.0					12																	13716820		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716820C>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3352G>T	12.37:g.13716820C>A	ENSP00000477455:p.Asp1118Tyr						p.D1118Y	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3531	-			1118			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.3352G>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	12.91	2.079614	0.36662	.	.	ENSG00000150086	ENST00000279593	T	0.11712	2.75	5.34	5.34	0.76211	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.226792	0.45361	D	0.000374	T	0.12646	0.0307	L	0.29908	0.895	0.54753	D	0.999983	P	0.37688	0.605	B	0.39738	0.308	T	0.04320	-1.0960	10	0.51188	T	0.08	.	19.0724	0.93145	0.0:1.0:0.0:0.0	.	1118	Q13224	NMDE2_HUMAN	Y	1118	ENSP00000279593:D1118Y	ENSP00000279593:D1118Y	D	-	1	0	GRIN2B	13608087	0.991000	0.36638	0.954000	0.39281	0.907000	0.53573	2.816000	0.48026	2.492000	0.84095	0.655000	0.94253	GAC		PASS	0.607	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			30	67	30	67	---	---	---	---
GRIN2B	2904	broad.mit.edu	37	12	13906657	13906657	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:13906657C>G	ENST00000609686.1	-	3	813	c.604G>C	c.(604-606)Gtc>Ctc	p.V202L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	202					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.V202L(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGTAGGAGGACCTCCTCTAGC	0.473																																						uc001rbt.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(604-606)GTC>CTC		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						138.0	134.0	135.0					12																	13906657		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13906657C>G		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.604G>C	12.37:g.13906657C>G	ENSP00000477455:p.Val202Leu						p.V202L	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			3	783	-			202			Extracellular (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.604G>C	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953877	0.73902	.	.	ENSG00000150086	ENST00000279593	D	0.92699	-3.09	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94318	0.8174	M	0.81497	2.545	0.80722	D	1	B	0.32653	0.379	B	0.42361	0.385	D	0.94331	0.7562	10	0.72032	D	0.01	.	18.9037	0.92453	0.0:1.0:0.0:0.0	.	202	Q13224	NMDE2_HUMAN	L	202	ENSP00000279593:V202L	ENSP00000279593:V202L	V	-	1	0	GRIN2B	13797924	0.999000	0.42202	1.000000	0.80357	0.951000	0.60555	3.974000	0.56852	2.454000	0.82982	0.561000	0.74099	GTC		PASS	0.473	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			54	99	54	99	---	---	---	---
SLCO1B7	338821	broad.mit.edu	37	12	21229443	21229443	+	Nonsense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:21229443G>A	ENST00000421593.2	+	12	1664	c.1664G>A	c.(1663-1665)tGg>tAg	p.W555*	SLCO1B7_ENST00000554957.1_Nonsense_Mutation_p.W602*|SLCO1B3_ENST00000553473.1_Nonsense_Mutation_p.W663*|RP11-125O5.2_ENST00000590779.1_Missense_Mutation_p.G56S|LST3_ENST00000540229.1_Nonsense_Mutation_p.W663*|LST3_ENST00000381541.3_Nonsense_Mutation_p.W602*	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	555						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.W555*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGTATGAAGTGGTCCACCAAC	0.353																																						uc010sil.1																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(2)|ovary(1)|skin(1)	4						c.(1987-1989)TGG>TAG		SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c;							182.0	194.0	190.0					12																	21229443		2203	4300	6503	SO:0001587	stop_gained	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21229443G>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1664G>A	12.37:g.21229443G>A	ENSP00000394168:p.Trp555*					LST-3TM12_uc010sim.1_Nonsense_Mutation_p.W602*|LST-3TM12_uc010sin.1_Nonsense_Mutation_p.W555*	p.W663*			Q9NPD5	SO1B3_HUMAN			15	2053	+	Esophageal squamous(101;0.149)		Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q71QF0	Nonsense_Mutation	SNP	ENST00000421593.2	37	c.1988G>A	CCDS44843.1	.	.	.	.	.	.	.	.	.	.	.	21.9	4.211469	0.79240	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593;ENST00000545916	.	.	.	2.4	2.4	0.29515	.	0.060725	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.9439	0.41598	0.0:0.0:1.0:0.0	.	.	.	.	X	663;602;663;602;555;64	.	ENSP00000370952:W602X	W	+	2	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21120710	1.000000	0.71417	0.754000	0.31244	0.343000	0.28985	6.645000	0.74343	1.322000	0.45245	0.205000	0.17691	TGG		PASS	0.353	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562		117	250	117	250	---	---	---	---
SLCO1A2	6579	broad.mit.edu	37	12	21450348	21450348	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:21450348G>T	ENST00000307378.6	-	10	1785	c.1065C>A	c.(1063-1065)atC>atA	p.I355I	SLCO1A2_ENST00000452078.1_Silent_p.I355I|SLCO1A2_ENST00000537524.1_Silent_p.I223I|SLCO1A2_ENST00000390670.3_Silent_p.I353I|SLCO1A2_ENST00000458504.1_Silent_p.I223I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	355			I -> V (in dbSNP:rs45628437).		bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.I355I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	CCATTAGAAAGATTGCATCTG	0.403																																						uc001rer.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(1063-1065)ATC>ATA		organic anion transporting polypeptide A							140.0	134.0	136.0					12																	21450348		2203	4300	6503	SO:0001819	synonymous_variant	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21450348G>T		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1065C>A	12.37:g.21450348G>T						SLCO1A2_uc001res.2_Silent_p.I355I|SLCO1A2_uc010siq.1_Silent_p.I223I|SLCO1A2_uc010sio.1_Silent_p.I223I|SLCO1A2_uc010sip.1_Silent_p.I223I|SLCO1A2_uc001ret.2_Silent_p.I353I|SLCO1A2_uc001reu.2_Silent_p.I335I	p.I355I	NM_021094	NP_066580	P46721	SO1A2_HUMAN			8	1316	-			355			Helical; Name=8; (Potential).		Q9UGP7|Q9UL38	Silent	SNP	ENST00000307378.6	37	c.1065C>A	CCDS8686.1																																																																																				PASS	0.403	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		41	86	41	86	---	---	---	---
SYT10	341359	broad.mit.edu	37	12	33538175	33538175	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:33538175C>A	ENST00000228567.3	-	4	1425	c.1129G>T	c.(1129-1131)Gct>Tct	p.A377S	SYT10_ENST00000535526.1_Missense_Mutation_p.A196S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	377	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.A377S(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATACGCCCAGCCGTCGGTAGG	0.448																																						uc001rll.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1129-1131)GCT>TCT		synaptotagmin X							140.0	117.0	125.0					12																	33538175		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33538175C>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1129G>T	12.37:g.33538175C>A	ENSP00000228567:p.Ala377Ser					SYT10_uc009zju.1_Missense_Mutation_p.A187S	p.A377S	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			4	1426	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		377			C2 2.|Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1129G>T	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963373	0.74016	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.71461	-0.57;-0.57	4.6	4.6	0.57074	C2 membrane targeting protein (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.41194	U	0.000940	T	0.72914	0.3520	N	0.12920	0.275	0.80722	D	1	D	0.63880	0.993	D	0.72075	0.976	T	0.77877	-0.2424	10	0.59425	D	0.04	.	17.2903	0.87154	0.0:1.0:0.0:0.0	.	377	Q6XYQ8	SYT10_HUMAN	S	377;196	ENSP00000228567:A377S;ENSP00000438691:A196S	ENSP00000228567:A377S	A	-	1	0	SYT10	33429442	1.000000	0.71417	0.746000	0.31095	0.376000	0.30014	7.165000	0.77544	2.490000	0.84030	0.557000	0.71058	GCT		PASS	0.448	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992		22	72	22	72	---	---	---	---
PDZRN4	29951	broad.mit.edu	37	12	41966841	41966841	+	Missense_Mutation	SNP	C	C	G	rs139658899	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:41966841C>G	ENST00000402685.2	+	10	2268	c.2260C>G	c.(2260-2262)Cgt>Ggt	p.R754G	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R496G|PDZRN4_ENST00000298919.7_Missense_Mutation_p.R494G	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	754							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R496G(1)|p.R754G(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CACTGTAGACCGTTCCCCTGA	0.507																																						uc010skn.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(1663-1665)CGT>GGT		PDZ domain containing RING finger 4 isoform 2							103.0	99.0	100.0					12																	41966841		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966841C>G	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2260C>G	12.37:g.41966841C>G	ENSP00000384197:p.Arg754Gly					PDZRN4_uc001rmq.3_Missense_Mutation_p.R496G|PDZRN4_uc009zjz.2_Missense_Mutation_p.R494G|PDZRN4_uc001rmr.2_Missense_Mutation_p.R381G	p.R555G	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	1731	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	754					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1663C>G	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	4.820	0.152429	0.09185	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73047	-0.71;3.77;3.76	5.34	4.42	0.53409	.	0.000000	0.64402	D	0.000010	T	0.66416	0.2787	M	0.68593	2.085	0.80722	D	1	B;B;B	0.30763	0.294;0.055;0.055	B;B;B	0.27796	0.083;0.06;0.06	T	0.64183	-0.6467	10	0.26408	T	0.33	-21.8328	13.519	0.61557	0.2927:0.7073:0.0:0.0	.	754;494;496	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	G	754;496;494	ENSP00000384197:R754G;ENSP00000439990:R496G;ENSP00000298919:R494G	ENSP00000298919:R494G	R	+	1	0	PDZRN4	40253108	0.999000	0.42202	1.000000	0.80357	0.348000	0.29142	2.421000	0.44688	1.519000	0.48950	0.650000	0.86243	CGT		PASS	0.507	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		56	115	56	115	---	---	---	---
YAF2	10138	broad.mit.edu	37	12	42554479	42554479	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:42554479C>A	ENST00000534854.2	-	4	522	c.455G>T	c.(454-456)gGc>gTc	p.G152V	YAF2_ENST00000380790.4_Missense_Mutation_p.G110V|YAF2_ENST00000380788.3_Missense_Mutation_p.G143V|YAF2_ENST00000442791.3_Missense_Mutation_p.G176V|YAF2_ENST00000327791.4_Missense_Mutation_p.G128V	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2	152					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G152V(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		AGAGCTAGAGCCGCTTTGACT	0.428																																						uc001rmv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(454-456)GGC>GTC		YY1 associated factor 2							97.0	89.0	91.0					12																	42554479		2203	4300	6503	SO:0001583	missense	10138				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr12:42554479C>A	U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.455G>T	12.37:g.42554479C>A	ENSP00000439256:p.Gly152Val					YAF2_uc001rmw.2_Missense_Mutation_p.G176V|YAF2_uc010sko.1_Missense_Mutation_p.G143V|YAF2_uc010skp.1_Missense_Mutation_p.G110V	p.G152V	NM_005748	NP_005739	Q8IY57	YAF2_HUMAN		GBM - Glioblastoma multiforme(48;0.0514)	4	523	-	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)	152					A8K5P0|B4DFU3|G3V465|Q99710	Missense_Mutation	SNP	ENST00000534854.2	37	c.455G>T	CCDS31775.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905398	0.72868	.	.	ENSG00000015153	ENST00000327791;ENST00000442791;ENST00000534854;ENST00000380790;ENST00000380788	.	.	.	5.6	5.6	0.85130	.	0.089728	0.85682	D	0.000000	T	0.63426	0.2510	L	0.47716	1.5	0.80722	D	1	P;P;P;P	0.52577	0.846;0.954;0.796;0.468	P;P;P;B	0.49637	0.513;0.617;0.609;0.361	T	0.66654	-0.5869	9	0.87932	D	0	.	19.5968	0.95544	0.0:1.0:0.0:0.0	.	110;143;128;152	B4DFU3;A6NL56;Q8IY57-2;Q8IY57	.;.;.;YAF2_HUMAN	V	128;176;152;110;143	.	ENSP00000328004:G128V	G	-	2	0	YAF2	40840746	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.345000	0.79337	2.634000	0.89283	0.655000	0.94253	GGC		PASS	0.428	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403781.1			19	55	19	55	---	---	---	---
PLEKHA8P1	51054	broad.mit.edu	37	12	45567135	45567135	+	RNA	SNP	C	C	A	rs374724969		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:45567135C>A	ENST00000256692.5	-	0	1550					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.A338A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTAAAGCTAACGCAAAAACCC	0.463																																						uc001rom.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1012-1014)GCG>GCT		pleckstrin homology domain containing, family A							109.0	102.0	104.0					12																	45567135		2203	4300	6503			51054							g.chr12:45567135C>A	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45567135C>A						PLEKHA9_uc009zke.2_Silent_p.A338A	p.A338A	NM_015899	NP_056983				GBM - Glioblastoma multiforme(48;0.173)	3	1551	-	Lung SC(27;0.192)|Renal(347;0.236)								Silent	SNP	ENST00000256692.5	37	c.1014G>T																																																																																					PASS	0.463	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		41	106	41	106	---	---	---	---
ANO6	196527	broad.mit.edu	37	12	45771835	45771835	+	Splice_Site	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:45771835G>C	ENST00000320560.8	+	10	1306		c.e10-1		ANO6_ENST00000423947.3_Splice_Site|ANO6_ENST00000426898.2_Splice_Site|ANO6_ENST00000435642.1_Splice_Site|ANO6_ENST00000441606.2_Splice_Site|ANO6_ENST00000425752.2_Splice_Site	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6						activation of blood coagulation via clotting cascade (GO:0002543)|blood coagulation (GO:0007596)|bone mineralization involved in bone maturation (GO:0035630)|calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|phosphatidylserine exposure on blood platelet (GO:0097045)|phospholipid scrambling (GO:0017121)|positive regulation of endothelial cell apoptotic process (GO:2000353)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)|voltage-gated chloride channel activity (GO:0005247)|voltage-gated ion channel activity (GO:0005244)	p.?(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATATTTTCCAGAAATTGTGCA	0.313																																						uc001roo.2																			2	Unknown(2)		lung(2)	ovary(1)|kidney(1)	2						c.e10-1		anoctamin 6 isoform a							158.0	163.0	161.0					12																	45771835		2203	4300	6503	SO:0001630	splice_region_variant	196527				activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity	g.chr12:45771835G>C	AL832340	CCDS31782.1, CCDS44865.1, CCDS44866.1, CCDS55819.1	12q12-q13.11	2014-09-17	2008-08-28	2008-08-28				"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25240	protein-coding gene	gene with protein product		608663	"""transmembrane protein 16F"""	TMEM16F		15067359, 24692353	Standard	NM_001025356		Approved	DKFZp313M0720	uc010slf.2	Q4KMQ2	OTTHUMG00000169564	ENST00000320560.8:c.1105-1G>C	12.37:g.45771835G>C						ANO6_uc010sld.1_Splice_Site_p.K369_splice|ANO6_uc010sle.1_Splice_Site_p.K369_splice|ANO6_uc010slf.1_Splice_Site_p.K390_splice|ANO6_uc010slg.1_Splice_Site_p.K351_splice	p.K369_splice	NM_001025356	NP_001020527	Q4KMQ2	ANO6_HUMAN			10	1440	+								A6NNM6|B9EGG0|E7ENK4|E9PB30|E9PCT2|Q8N3Q2	Splice_Site	SNP	ENST00000320560.8	37	c.1105_splice	CCDS31782.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.714018	0.68730	.	.	ENSG00000177119	ENST00000425752;ENST00000423947;ENST00000435642;ENST00000320560;ENST00000441606	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5574	0.87896	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ANO6	44058102	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	6.266000	0.72540	2.739000	0.93911	0.655000	0.94253	.		PASS	0.313	ANO6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404822.1	XM_113743	Intron	59	141	59	141	---	---	---	---
KCNH3	23416	broad.mit.edu	37	12	49937247	49937247	+	Missense_Mutation	SNP	G	G	T	rs188303067		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:49937247G>T	ENST00000257981.6	+	5	1029	c.769G>T	c.(769-771)Gcc>Tcc	p.A257S	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	257					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A257S(1)		NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GCCCAGTGCCGCCCGCGGCCC	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16602	0.0		0.0	False		,,,				2504	0.0					uc001ruh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(769-771)GCC>TCC		potassium voltage-gated channel, subfamily H							45.0	42.0	43.0					12																	49937247		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49937247G>T	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.769G>T	12.37:g.49937247G>T	ENSP00000257981:p.Ala257Ser					KCNH3_uc010smj.1_Missense_Mutation_p.A197S	p.A257S	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN			5	1029	+			257			Extracellular (Potential).		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.769G>T	CCDS8786.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	11.27	1.588129	0.28268	.	.	ENSG00000135519	ENST00000257981	D	0.97455	-4.39	4.56	4.56	0.56223	.	0.000000	0.46758	D	0.000276	D	0.93387	0.7891	L	0.31926	0.97	0.28793	N	0.899207	B	0.12013	0.005	B	0.12837	0.008	D	0.87604	0.2499	10	0.44086	T	0.13	.	10.9944	0.47567	0.0:0.1889:0.8111:0.0	.	257	Q9ULD8	KCNH3_HUMAN	S	257	ENSP00000257981:A257S	ENSP00000257981:A257S	A	+	1	0	KCNH3	48223514	0.983000	0.35010	0.977000	0.42913	0.742000	0.42306	1.171000	0.31896	2.559000	0.86315	0.655000	0.94253	GCC		PASS	0.667	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		22	39	22	39	---	---	---	---
GALNT6	11226	broad.mit.edu	37	12	51748185	51748185	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:51748185T>G	ENST00000543196.2	-	11	2052	c.1847A>C	c.(1846-1848)cAt>cCt	p.H616P	GALNT6_ENST00000356317.3_Missense_Mutation_p.H616P			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	616	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.H616P(1)		endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CCACAACTGATGGGGGTCACT	0.542																																						uc001ryk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1846-1848)CAT>CCT		polypeptide N-acetylgalactosaminyltransferase 6							66.0	65.0	65.0					12																	51748185		2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51748185T>G	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1847A>C	12.37:g.51748185T>G	ENSP00000444171:p.His616Pro					GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.H616P|GALNT6_uc001ryj.1_Missense_Mutation_p.H181P	p.H616P	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			11	2072	-			616			Ricin B-type lectin.|Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.1847A>C	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.957050	0.34565	.	.	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.26518	1.73;1.73	4.35	0.589	0.17452	Ricin B-related lectin (1);Ricin B lectin (3);	0.804728	0.11679	N	0.540003	T	0.26011	0.0634	M	0.63843	1.955	0.35369	D	0.788883	P	0.41546	0.754	B	0.43445	0.42	T	0.33189	-0.9878	10	0.37606	T	0.19	.	4.4761	0.11745	0.0:0.1939:0.1667:0.6395	.	616	Q8NCL4	GALT6_HUMAN	P	616;616;597	ENSP00000444171:H616P;ENSP00000348668:H616P	ENSP00000348668:H616P	H	-	2	0	GALNT6	50034452	0.111000	0.22076	0.923000	0.36655	0.582000	0.36321	-0.048000	0.11944	0.098000	0.17522	-0.477000	0.04895	CAT		PASS	0.542	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		16	43	16	43	---	---	---	---
KRT85	3891	broad.mit.edu	37	12	52761150	52761150	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:52761150C>T	ENST00000257901.3	-	1	115	c.40G>A	c.(40-42)Gtc>Atc	p.V14I	KRT85_ENST00000544265.1_5'Flank	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	14	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.V14I(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCCTGGTGACCCCGCATCCT	0.652																																						uc001sag.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(40-42)GTC>ATC		keratin 85							34.0	34.0	34.0					12																	52761150		2203	4300	6503	SO:0001583	missense	3891				epidermis development	keratin filament	protein binding|structural molecule activity	g.chr12:52761150C>T	X99140	CCDS8824.1, CCDS73472.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000135443	ENSG00000135443		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6462	protein-coding gene	gene with protein product	"""hard keratin type II"""	602767	"""keratin, hair, basic, 5"""	KRTHB5		9084137, 16831889	Standard	NM_002283		Approved	Hb-5	uc001sag.3	P78386	OTTHUMG00000169633	ENST00000257901.3:c.40G>A	12.37:g.52761150C>T	ENSP00000257901:p.Val14Ile						p.V14I	NM_002283	NP_002274	P78386	KRT85_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	160	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		14			Head.		Q9NSB1	Missense_Mutation	SNP	ENST00000257901.3	37	c.40G>A	CCDS8824.1	.	.	.	.	.	.	.	.	.	.	C	12.41	1.929716	0.34096	.	.	ENSG00000135443	ENST00000257901	T	0.70516	-0.49	4.63	3.67	0.42095	.	0.000000	0.45867	D	0.000332	T	0.47820	0.1466	N	0.19112	0.55	0.22066	N	0.999386	P	0.44195	0.828	B	0.33042	0.157	T	0.47573	-0.9107	10	0.35671	T	0.21	.	10.1796	0.42959	0.137:0.7856:0.0:0.0774	.	14	P78386	KRT85_HUMAN	I	14	ENSP00000257901:V14I	ENSP00000257901:V14I	V	-	1	0	KRT85	51047417	0.014000	0.17966	0.994000	0.49952	0.991000	0.79684	0.807000	0.27140	2.548000	0.85928	0.561000	0.74099	GTC		PASS	0.652	KRT85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405184.1	NM_002283		11	24	11	24	---	---	---	---
KRT72	140807	broad.mit.edu	37	12	52981525	52981525	+	Missense_Mutation	SNP	C	C	A	rs562426021		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:52981525C>A	ENST00000537672.2	-	7	1210	c.1200G>T	c.(1198-1200)aaG>aaT	p.K400N	KRT72_ENST00000293745.2_Missense_Mutation_p.K400N|KRT72_ENST00000354310.4_Missense_Mutation_p.K358N|KRT72_ENST00000398066.3_Missense_Mutation_p.K212N	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	400	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.K400N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCAGCTCCTCCTTGGCCTGGT	0.662																																						uc001sar.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|pancreas(1)	6						c.(1198-1200)AAG>AAT		keratin 72 isoform 1							95.0	86.0	89.0					12																	52981525		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52981525C>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1200G>T	12.37:g.52981525C>A	ENSP00000441160:p.Lys400Asn					KRT72_uc001saq.2_Missense_Mutation_p.K400N|KRT72_uc010sns.1_Missense_Mutation_p.K358N|KRT72_uc010snt.1_Missense_Mutation_p.K212N	p.K400N	NM_001146225	NP_001139697	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	7	1286	-			400			Coil 2.|Rod.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.1200G>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.293305	0.80914	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310;ENST00000398066	D;D;D;D	0.91464	-2.85;-2.85;-2.85;-2.85	4.92	4.92	0.64577	Filament (1);	0.000000	0.53938	D	0.000044	D	0.97390	0.9146	H	0.98238	4.18	0.41667	D	0.98921	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99016	1.0816	10	0.87932	D	0	.	19.0272	0.92937	0.0:1.0:0.0:0.0	.	358;400	B4DEI8;Q14CN4	.;K2C72_HUMAN	N	400;400;358;212	ENSP00000441160:K400N;ENSP00000293745:K400N;ENSP00000346269:K358N;ENSP00000446151:K212N	ENSP00000293745:K400N	K	-	3	2	KRT72	51267792	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.030000	0.41108	2.652000	0.90054	0.650000	0.86243	AAG		PASS	0.662	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	NM_080747		4	102	4	102	---	---	---	---
NEUROD4	58158	broad.mit.edu	37	12	55420434	55420434	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:55420434G>T	ENST00000242994.3	+	2	589	c.211G>T	c.(211-213)Ggt>Tgt	p.G71C		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	71					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G71C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TAAGAGAAGGGGTCCCAAGAA	0.488																																						uc001sgp.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(211-213)GGT>TGT		neurogenic differentiation 4							55.0	51.0	53.0					12																	55420434		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420434G>T	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.211G>T	12.37:g.55420434G>T	ENSP00000242994:p.Gly71Cys						p.G71C	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN			2	589	+			71					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.211G>T	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166794	0.78339	.	.	ENSG00000123307	ENST00000242994	D	0.96459	-4.02	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98877	1.0768	10	0.87932	D	0	3.6497	16.9981	0.86373	0.0:0.0:1.0:0.0	.	71	Q9HD90	NDF4_HUMAN	C	71	ENSP00000242994:G71C	ENSP00000242994:G71C	G	+	1	0	NEUROD4	53706701	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.683000	0.91414	0.655000	0.94253	GGT		PASS	0.488	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			28	47	28	47	---	---	---	---
PAN2	9924	broad.mit.edu	37	12	56716415	56716415	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:56716415T>A	ENST00000425394.2	-	18	3009	c.2633A>T	c.(2632-2634)tAc>tTc	p.Y878F	PAN2_ENST00000440411.3_Missense_Mutation_p.Y874F|PAN2_ENST00000548043.1_Missense_Mutation_p.Y878F|PAN2_ENST00000257931.5_Missense_Mutation_p.Y877F	NM_001127460.2	NP_001120932	Q9HBH5	RDH14_HUMAN	PAN2 poly(A) specific ribonuclease subunit	0					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.Y874F(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41					Vitamin A(DB00162)	GCGCTGGTGGTAGGTCTCTCC	0.557																																						uc001skx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|breast(1)	6						c.(2632-2634)TAC>TTC		PAN2 polyA specific ribonuclease subunit homolog							113.0	94.0	100.0					12																	56716415		2203	4300	6503	SO:0001583	missense	9924				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity	g.chr12:56716415T>A	AB014610	CCDS8915.1, CCDS44922.1, CCDS53802.1	12q13.2	2014-03-27	2014-03-27	2008-01-08		ENSG00000135473		"""Ubiquitin-specific peptidases"""	20074	protein-coding gene	gene with protein product	"""PAN2 homolog, PABP1 dependent poly A specific ribonuclease subunit (S. cerevisiae)"""		"""ubiquitin specific protease 52"", ""ubiquitin specific peptidase 52"", ""PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""	USP52		12838346, 14583602	Standard	NM_014871		Approved	KIAA0710, hPAN2	uc001skx.3	Q504Q3	OTTHUMG00000170412	ENST00000425394.2:c.2633A>T	12.37:g.56716415T>A	ENSP00000401721:p.Tyr878Phe					PAN2_uc001skw.2_Missense_Mutation_p.Y26F|PAN2_uc001skz.2_Missense_Mutation_p.Y877F|PAN2_uc001sky.2_Missense_Mutation_p.Y874F	p.Y878F	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN			18	3006	-			878						Missense_Mutation	SNP	ENST00000425394.2	37	c.2633A>T	CCDS44922.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.433359	0.83776	.	.	ENSG00000135473	ENST00000425394;ENST00000440411;ENST00000257931;ENST00000548043	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.24	5.24	0.73138	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49881	0.1583	M	0.82716	2.605	0.52501	D	0.999956	P;P;D	0.55172	0.933;0.868;0.97	P;P;P	0.58520	0.791;0.743;0.84	T	0.57177	-0.7856	10	0.72032	D	0.01	-15.3792	14.4313	0.67251	0.0:0.0:0.0:1.0	.	877;874;878	Q504Q3-3;Q504Q3-2;Q504Q3	.;.;PAN2_HUMAN	F	878;874;877;878	ENSP00000401721:Y878F;ENSP00000388231:Y874F;ENSP00000257931:Y877F;ENSP00000449861:Y878F	ENSP00000257931:Y877F	Y	-	2	0	PAN2	55002682	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.978000	0.70501	2.126000	0.65437	0.254000	0.18369	TAC		PASS	0.557	PAN2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409024.1	NM_014871		28	72	28	72	---	---	---	---
SRGAP1	57522	broad.mit.edu	37	12	64491063	64491063	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:64491063A>G	ENST00000355086.3	+	15	2245	c.1721A>G	c.(1720-1722)aAc>aGc	p.N574S	RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.N551S|SRGAP1_ENST00000543397.1_Missense_Mutation_p.N511S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	574	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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.N574S(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)		CATGATATTAACTCAGTTGCT	0.368																																						uc010ssp.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)	4						c.(1720-1722)AAC>AGC		SLIT-ROBO Rho GTPase activating protein 1							98.0	94.0	95.0					12																	64491063		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64491063A>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.1721A>G	12.37:g.64491063A>G	ENSP00000347198:p.Asn574Ser					SRGAP1_uc001srv.2_Missense_Mutation_p.N511S	p.N574S	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)	15	1777	+			574			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1721A>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.632438	0.87660	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.43688	0.94;0.94;0.94	5.13	5.13	0.70059	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.37955	U	0.001867	T	0.56702	0.2003	M	0.83483	2.645	0.80722	D	1	P;P	0.36110	0.537;0.486	P;B	0.45167	0.472;0.324	T	0.59273	-0.7485	9	.	.	.	.	15.6453	0.77042	1.0:0.0:0.0:0.0	.	574;511	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	S	574;551;511	ENSP00000347198:N574S;ENSP00000350480:N551S;ENSP00000437948:N511S	.	N	+	2	0	SRGAP1	62777330	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.174000	0.94824	2.229000	0.72834	0.533000	0.62120	AAC		PASS	0.368	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			62	88	62	88	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70925933	70925933	+	Missense_Mutation	SNP	G	G	T	rs367603902		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:70925933G>T	ENST00000261266.5	-	30	5761	c.5732C>A	c.(5731-5733)aCt>aAt	p.T1911N	PTPRB_ENST00000538708.1_Missense_Mutation_p.T1821N|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000334414.6_Missense_Mutation_p.T2129N|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.T1821N|PTPRB_ENST00000550358.1_Missense_Mutation_p.T2041N|PTPRB_ENST00000451516.2_Missense_Mutation_p.T1821N|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1911	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T1911N(2)|p.T2129N(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AAAGGTTCCAGTCCTACCCAC	0.443																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(5731-5733)ACT>AAT		protein tyrosine phosphatase, receptor type, B							99.0	93.0	94.0					12																	70925933		1919	4126	6045	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70925933G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5732C>A	12.37:g.70925933G>T	ENSP00000261266:p.Thr1911Asn					uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.T1821N|PTPRB_uc010stp.1_Missense_Mutation_p.T1821N|PTPRB_uc001swc.3_Missense_Mutation_p.T2129N|PTPRB_uc001swa.3_Missense_Mutation_p.T2041N	p.T1911N	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		30	5762	-	Renal(347;0.236)		1911			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5732C>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.092143	0.76756	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.22539	1.95;1.95;1.95;1.95;1.95;1.95	5.41	4.52	0.55395	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.204950	0.50627	D	0.000113	T	0.65207	0.2669	H	0.99225	4.475	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0	T	0.80997	-0.1132	10	0.87932	D	0	.	14.1861	0.65607	0.0721:0.0:0.9279:0.0	.	1821;1821;2129;1911;2041	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	N	2129;1821;2041;1821;1821;1911	ENSP00000334928:T2129N;ENSP00000393028:T1821N;ENSP00000448058:T2041N;ENSP00000438927:T1821N;ENSP00000447302:T1821N;ENSP00000261266:T1911N	ENSP00000261266:T1911N	T	-	2	0	PTPRB	69212200	1.000000	0.71417	0.979000	0.43373	0.955000	0.61496	9.394000	0.97261	1.421000	0.47157	0.655000	0.94253	ACT		PASS	0.443	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			32	57	32	57	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78569142	78569142	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:78569142A>T	ENST00000397909.2	+	25	5211	c.5038A>T	c.(5038-5040)Aca>Tca	p.T1680S	NAV3_ENST00000536525.2_Missense_Mutation_p.T1680S|NAV3_ENST00000228327.6_Missense_Mutation_p.T1680S|NAV3_ENST00000266692.7_Missense_Mutation_p.T1503S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1680						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.T1680S(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						CAACAGTGCCACAAGCCATTC	0.423										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.(5038-5040)ACA>TCA		neuron navigator 3							99.0	95.0	96.0					12																	78569142		1880	4111	5991	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78569142A>T	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.5038A>T	12.37:g.78569142A>T	ENSP00000381007:p.Thr1680Ser	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.T1680S|NAV3_uc010sub.1_Missense_Mutation_p.T1166S|NAV3_uc009zsf.2_Missense_Mutation_p.T511S	p.T1680S	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			25	5211	+			1680					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.5038A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.92|18.92	3.726326|3.726326	0.69074|0.69074	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000552895|ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	.|D;D;D;D;D	.|0.93659	.|-3.26;-3.26;-3.26;-3.26;-3.26	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	.|0.000000	.|0.37483	.|U	.|0.002078	D|D	0.89945|0.89945	0.6862|0.6862	L|L	0.33753|0.33753	1.03|1.03	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.47841	.|0.901;0.496;0.754;0.802	.|B;B;B;B	.|0.42495	.|0.387;0.269;0.256;0.389	D|D	0.90228|0.90228	0.4277|0.4277	5|10	.|0.44086	.|T	.|0.13	-17.5072|-17.5072	15.7411|15.7411	0.77899|0.77899	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1680;1503;1680;1680	.|E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.|.;.;NAV3_HUMAN;.	L|S	574|1680;1680;1680;1503;301;309	.|ENSP00000446132:T1680S;ENSP00000381007:T1680S;ENSP00000228327:T1680S;ENSP00000266692:T1503S;ENSP00000448303:T309S	.|ENSP00000228327:T1680S	H|T	+|+	2|1	0|0	NAV3|NAV3	77093273|77093273	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.278000|4.278000	0.58946|0.58946	2.171000|2.171000	0.68590|0.68590	0.533000|0.533000	0.62120|0.62120	CAC|ACA		PASS	0.423	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		29	72	29	72	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85459184	85459184	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:85459184G>A	ENST00000393217.2	+	9	2597	c.2536G>A	c.(2536-2538)Gat>Aat	p.D846N		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	846								p.D846N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAAGTACATTGATGCACAGGT	0.338																																						uc001tac.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2536-2538)GAT>AAT		leucine-rich repeats and IQ motif containing 1							110.0	104.0	106.0					12																	85459184		2203	4299	6502	SO:0001583	missense	84125							g.chr12:85459184G>A	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.2536G>A	12.37:g.85459184G>A	ENSP00000376910:p.Asp846Asn					LRRIQ1_uc001tab.1_Missense_Mutation_p.D846N	p.D846N	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	9	2647	+			846			LRR 2.		Q567P4|Q9BS17|Q9HA36	Missense_Mutation	SNP	ENST00000393217.2	37	c.2536G>A	CCDS41816.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888966	0.72524	.	.	ENSG00000133640	ENST00000256007;ENST00000378580;ENST00000393217	T	0.08546	3.08	5.6	5.6	0.85130	.	0.068768	0.53938	D	0.000057	T	0.19446	0.0467	L	0.46567	1.45	0.38647	D	0.951759	D;D	0.67145	0.991;0.996	P;D	0.66602	0.72;0.945	T	0.00516	-1.1694	10	0.48119	T	0.1	.	11.5657	0.50805	0.0889:0.0:0.9111:0.0	.	846;821	Q96JM4;C9JI57	LRIQ1_HUMAN;.	N	846;821;846	ENSP00000376910:D846N	ENSP00000256007:D846N	D	+	1	0	LRRIQ1	83983315	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.802000	0.62539	2.640000	0.89533	0.585000	0.79938	GAT		PASS	0.338	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		48	113	48	113	---	---	---	---
LRRIQ1	84125	broad.mit.edu	37	12	85515541	85515541	+	Silent	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:85515541A>T	ENST00000393217.2	+	16	3505	c.3444A>T	c.(3442-3444)tcA>tcT	p.S1148S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1148	LRRCT.							p.S1148S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACTCTAATTCAGAAAGCCGCA	0.368																																						uc001tac.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3442-3444)TCA>TCT		leucine-rich repeats and IQ motif containing 1							82.0	78.0	79.0					12																	85515541		2203	4300	6503	SO:0001819	synonymous_variant	84125							g.chr12:85515541A>T	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.3444A>T	12.37:g.85515541A>T						LRRIQ1_uc001tab.1_Silent_p.S1148S	p.S1148S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	16	3555	+			1148			LRRCT.		Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.3444A>T	CCDS41816.1																																																																																				PASS	0.368	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165		35	89	35	89	---	---	---	---
ALX1	8092	broad.mit.edu	37	12	85674243	85674243	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:85674243C>A	ENST00000316824.3	+	1	359	c.204C>A	c.(202-204)acC>acA	p.T68T		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	68					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.T68T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TGGAGAGGACCTCGCCCTGTC	0.637																																						uc001tae.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(202-204)ACC>ACA		cartilage paired-class homeoprotein 1							25.0	27.0	26.0					12																	85674243		2203	4299	6502	SO:0001819	synonymous_variant	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85674243C>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.204C>A	12.37:g.85674243C>A							p.T68T	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	1	208	+			68					Q546C8|Q96FH4	Silent	SNP	ENST00000316824.3	37	c.204C>A	CCDS9028.1																																																																																				PASS	0.637	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982		24	32	24	32	---	---	---	---
DUSP6	1848	broad.mit.edu	37	12	89744393	89744393	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:89744393C>G	ENST00000279488.7	-	2	2041	c.810G>C	c.(808-810)caG>caC	p.Q270H	DUSP6_ENST00000547291.1_Missense_Mutation_p.Q145H|DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000308385.6_Intron	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	270	Tyrosine-protein phosphatase.				cell differentiation (GO:0030154)|dorsal/ventral pattern formation (GO:0009953)|inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|regulation of endodermal cell fate specification (GO:0042663)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of heart growth (GO:0060420)|response to drug (GO:0042493)|response to nitrosative stress (GO:0051409)|response to organic cyclic compound (GO:0014070)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.Q270H(1)		large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						CAGGGAAAAACTGGGACAGGT	0.428																																					Colon(132;3456 5224)	uc001tay.2																			1	Substitution - Missense(1)		lung(1)		0						c.(808-810)CAG>CAC		dual specificity phosphatase 6 isoform a							109.0	120.0	116.0					12																	89744393		2203	4300	6503	SO:0001583	missense	1848				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr12:89744393C>G	BC037236	CCDS9033.1, CCDS9034.1	12q22-q23	2011-06-09				ENSG00000139318		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3072	protein-coding gene	gene with protein product		602748				8626780, 9205128	Standard	NM_001946		Approved	MKP-3, PYST1	uc001tay.3	Q16828		ENST00000279488.7:c.810G>C	12.37:g.89744393C>G	ENSP00000279488:p.Gln270His					DUSP6_uc001taz.2_Intron	p.Q270H	NM_001946	NP_001937	Q16828	DUS6_HUMAN			2	1290	-			270			Tyrosine-protein phosphatase.		O75109|Q53Y75|Q9BSH6	Missense_Mutation	SNP	ENST00000279488.7	37	c.810G>C	CCDS9033.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268407	0.80469	.	.	ENSG00000139318	ENST00000279488;ENST00000547291	D;D	0.86097	-2.07;-2.07	5.86	4.98	0.66077	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.90160	0.6925	M	0.73217	2.22	0.80722	D	1	D	0.63046	0.992	D	0.66084	0.941	D	0.90096	0.4181	10	0.52906	T	0.07	.	11.0583	0.47931	0.0:0.859:0.0:0.141	.	270	Q16828	DUS6_HUMAN	H	270;145	ENSP00000279488:Q270H;ENSP00000449838:Q145H	ENSP00000279488:Q270H	Q	-	3	2	DUSP6	88268524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.897000	0.63231	1.490000	0.48466	0.655000	0.94253	CAG		PASS	0.428	DUSP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406534.2	NM_001946, NM_022652		3	141	3	141	---	---	---	---
APAF1	317	broad.mit.edu	37	12	99042501	99042501	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:99042501G>T	ENST00000551964.1	+	3	972	c.236G>T	c.(235-237)gGa>gTa	p.G79V	APAF1_ENST00000549007.1_Missense_Mutation_p.G79V|APAF1_ENST00000333991.1_Missense_Mutation_p.G79V|APAF1_ENST00000357310.1_Missense_Mutation_p.G79V|APAF1_ENST00000547743.1_Missense_Mutation_p.G79V|APAF1_ENST00000552268.1_Missense_Mutation_p.G79V|APAF1_ENST00000339433.3_Missense_Mutation_p.G79V|APAF1_ENST00000550527.1_Missense_Mutation_p.G79V|APAF1_ENST00000359972.2_Missense_Mutation_p.G79V|APAF1_ENST00000547045.1_Missense_Mutation_p.G79V	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	79	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.G79V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTACATGAAGGATATAAAGAT	0.373																																						uc001tfz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(235-237)GGA>GTA		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						191.0	184.0	187.0					12																	99042501		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99042501G>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.236G>T	12.37:g.99042501G>T	ENSP00000448165:p.Gly79Val					APAF1_uc001tfy.2_Missense_Mutation_p.G79V|APAF1_uc001tga.2_Missense_Mutation_p.G79V|APAF1_uc001tgb.2_Missense_Mutation_p.G79V|APAF1_uc001tgc.2_Missense_Mutation_p.G79V	p.G79V	NM_181861	NP_863651	O14727	APAF_HUMAN			3	813	+			79			CARD.		B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.236G>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204739	0.79127	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000333991;ENST00000547743;ENST00000552268;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.64	5.64	0.86602	DEATH-like (2);Caspase Recruitment (2);	0.203840	0.51477	D	0.000098	T	0.48314	0.1493	M	0.70595	2.14	0.80722	D	1	D;D;D;D;D	0.89917	0.992;1.0;0.999;0.999;1.0	P;D;D;D;D	0.91635	0.734;0.986;0.931;0.976;0.999	T	0.27331	-1.0077	10	0.37606	T	0.19	-7.4636	19.7047	0.96068	0.0:0.0:1.0:0.0	.	79;79;79;79;79	O14727-6;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	V	79	ENSP00000448165:G79V;ENSP00000353059:G79V;ENSP00000349862:G79V;ENSP00000341830:G79V;ENSP00000334558:G79V;ENSP00000450175:G79V;ENSP00000448826:G79V;ENSP00000448449:G79V;ENSP00000449791:G79V;ENSP00000448161:G79V	ENSP00000334558:G79V	G	+	2	0	APAF1	97566632	1.000000	0.71417	0.970000	0.41538	0.998000	0.95712	6.247000	0.72411	2.627000	0.88993	0.655000	0.94253	GGA		PASS	0.373	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1	NM_181861.1		52	166	52	166	---	---	---	---
ANKS1B	56899	broad.mit.edu	37	12	100377981	100377981	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:100377981C>A	ENST00000547776.2	-	1	34	c.35G>T	c.(34-36)cGc>cTc	p.R12L	ANKS1B_ENST00000329257.7_Missense_Mutation_p.R12L|ANKS1B_ENST00000547010.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	12						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)	p.R12L(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		ATTTCCAGTGCGAGCAGCTTC	0.632																																						uc001tge.1																			1	Substitution - Missense(1)		lung(1)		0						c.(34-36)CGC>CTC		cajalin 2 isoform a							52.0	60.0	58.0					12																	100377981		1952	4129	6081	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100377981C>A	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.35G>T	12.37:g.100377981C>A	ENSP00000449629:p.Arg12Leu					ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.R12L	p.R12L	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	1	452	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	12			ANK 1.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.35G>T	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.163529	0.78226	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.65549	-0.16;-0.16;-0.16	4.71	4.71	0.59529	Ankyrin repeat-containing domain (3);	0.000000	0.45867	D	0.000333	T	0.74520	0.3727	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.91635	0.949;0.999	T	0.74309	-0.3707	9	.	.	.	-4.9053	15.815	0.78592	0.0:1.0:0.0:0.0	.	12;12	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	L	12	ENSP00000449629:R12L;ENSP00000331381:R12L;ENSP00000449894:R12L	.	R	-	2	0	ANKS1B	98902112	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.246000	0.65411	2.161000	0.67846	0.462000	0.41574	CGC		PASS	0.632	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		18	40	18	40	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100774486	100774486	+	Missense_Mutation	SNP	G	G	T	rs199746996		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:100774486G>T	ENST00000323346.5	+	2	422	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	SLC17A8_ENST00000392989.3_Missense_Mutation_p.D37Y	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	37					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.D37Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TAGAAAAATCGATGGGACAAC	0.448																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(109-111)GAT>TAT		solute carrier family 17 (sodium-dependent							88.0	96.0	93.0					12																	100774486		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100774486G>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.109G>T	12.37:g.100774486G>T	ENSP00000316909:p.Asp37Tyr					SLC17A8_uc009ztx.2_Missense_Mutation_p.D37Y	p.D37Y	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			2	422	+			37			Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.109G>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186256	0.57909	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.71461	-0.18;-0.57	5.18	5.18	0.71444	.	0.352642	0.32002	N	0.006738	T	0.80565	0.4647	L	0.47716	1.5	0.80722	D	1	D;D	0.71674	0.994;0.998	D;D	0.70716	0.95;0.97	T	0.82283	-0.0534	10	0.72032	D	0.01	.	18.7239	0.91705	0.0:0.0:1.0:0.0	.	37;37	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	Y	37	ENSP00000316909:D37Y;ENSP00000376715:D37Y	ENSP00000316909:D37Y	D	+	1	0	SLC17A8	99298617	1.000000	0.71417	0.996000	0.52242	0.117000	0.20001	7.475000	0.81041	2.426000	0.82243	0.650000	0.86243	GAT		PASS	0.448	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		56	168	56	168	---	---	---	---
SLC17A8	246213	broad.mit.edu	37	12	100797919	100797919	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:100797919C>T	ENST00000323346.5	+	9	1470	c.1157C>T	c.(1156-1158)aCt>aTt	p.T386I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.T336I|snoU13_ENST00000459038.1_RNA	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	386					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.T386I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTAACCACAACTGCTGTCAGA	0.403																																						uc010svi.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1156-1158)ACT>ATT		solute carrier family 17 (sodium-dependent							103.0	100.0	101.0					12																	100797919		2203	4300	6503	SO:0001583	missense	246213				neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	g.chr12:100797919C>T	AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.1157C>T	12.37:g.100797919C>T	ENSP00000316909:p.Thr386Ile					SLC17A8_uc009ztx.2_Missense_Mutation_p.T336I	p.T386I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN			9	1470	+			386			Cytoplasmic (Potential).		B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	c.1157C>T	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027113	0.93518	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.74315	0.4;-0.83	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.87422	0.6173	M	0.79693	2.465	0.80722	D	1	D;P	0.71674	0.998;0.925	D;P	0.79784	0.993;0.799	D	0.87691	0.2554	10	0.56958	D	0.05	.	19.6772	0.95941	0.0:1.0:0.0:0.0	.	386;336	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	I	386;336	ENSP00000316909:T386I;ENSP00000376715:T336I	ENSP00000316909:T386I	T	+	2	0	SLC17A8	99322050	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.762000	0.85270	2.653000	0.90120	0.557000	0.71058	ACT		PASS	0.403	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319		20	66	20	66	---	---	---	---
HCFC2	29915	broad.mit.edu	37	12	104476606	104476606	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:104476606G>T	ENST00000229330.4	+	7	1094	c.990G>T	c.(988-990)tgG>tgT	p.W330C		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	330					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)	p.W330C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TGTATTTTTGGAGTGGAAGAG	0.393																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)	uc001tkj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(988-990)TGG>TGT		host cell factor C2							80.0	81.0	81.0					12																	104476606		2203	4300	6503	SO:0001583	missense	29915				regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity	g.chr12:104476606G>T	AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.990G>T	12.37:g.104476606G>T	ENSP00000229330:p.Trp330Cys					HCFC2_uc009zul.2_RNA	p.W330C	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN			7	1093	+			330					B2R8Q5|C0H5X3	Missense_Mutation	SNP	ENST00000229330.4	37	c.990G>T	CCDS9097.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295383	0.81025	.	.	ENSG00000111727	ENST00000229330	T	0.30182	1.54	5.14	5.14	0.70334	Kelch-type beta propeller (1);	0.063338	0.64402	D	0.000002	T	0.66674	0.2813	M	0.92738	3.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76321	-0.3002	10	0.72032	D	0.01	-6.3794	18.5857	0.91188	0.0:0.0:1.0:0.0	.	330	Q9Y5Z7	HCFC2_HUMAN	C	330	ENSP00000229330:W330C	ENSP00000229330:W330C	W	+	3	0	HCFC2	103000736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.724000	0.98775	2.375000	0.81037	0.557000	0.71058	TGG		PASS	0.393	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407780.1	NM_013320		51	107	51	107	---	---	---	---
ASCL4	121549	broad.mit.edu	37	12	108169133	108169133	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:108169133C>A	ENST00000342331.4	+	1	972	c.141C>A	c.(139-141)tgC>tgA	p.C47*		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	46					regulation of transcription from RNA polymerase II promoter (GO:0006357)|skin development (GO:0043588)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.C46*(1)		breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						ACGCCGCGTGCTGGGAGTGGG	0.746																																					GBM(170;776 3695 11650)	uc001tmr.2																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(139-141)TGC>TGA		achaete-scute complex-like 4							10.0	13.0	12.0					12																	108169133		2118	4155	6273	SO:0001587	stop_gained	121549				regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:108169133C>A	AY238895	CCDS31894.2	12q24.11	2013-10-17	2013-10-17		ENSG00000187855	ENSG00000187855		"""Basic helix-loop-helix proteins"""	24311	protein-coding gene	gene with protein product		609155	"""achaete-scute complex-like 4 (Drosophila)"", ""achaete-scute complex homolog 4 (Drosophila)"""				Standard	NM_203436		Approved	HASH4, bHLHa44	uc001tmr.3	Q6XD76	OTTHUMG00000156964	ENST00000342331.4:c.141C>A	12.37:g.108169133C>A	ENSP00000345420:p.Cys47*						p.C47*	NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN			1	972	+			46					Q7RTS2	Nonsense_Mutation	SNP	ENST00000342331.4	37	c.141C>A	CCDS31894.2	.	.	.	.	.	.	.	.	.	.	C	40	8.128269	0.98667	.	.	ENSG00000187855	ENST00000342331	.	.	.	4.6	4.6	0.57074	.	1.203490	0.05976	U	0.643226	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-26.5075	12.2998	0.54868	0.0:0.9172:0.0:0.0828	.	.	.	.	X	47	.	ENSP00000345420:C47X	C	+	3	2	ASCL4	106693263	0.974000	0.33945	0.065000	0.19835	0.015000	0.08874	1.092000	0.30927	2.263000	0.75096	0.484000	0.47621	TGC		PASS	0.746	ASCL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346845.1	NM_203436		10	19	10	19	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113546027	113546027	+	Splice_Site	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:113546027C>G	ENST00000261729.5	-	15	1690	c.1375G>C	c.(1375-1377)Gat>Cat	p.D459H	RASAL1_ENST00000548055.1_Splice_Site_p.D459H|RASAL1_ENST00000546530.1_Missense_Mutation_p.D460H|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Splice_Site_p.D459H			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	459	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.D459H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TACTTCACATCCTGCTGGGAG	0.532																																						uc001tum.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1375-1377)GAT>CAT		RAS protein activator like 1							48.0	41.0	43.0					12																	113546027		2203	4300	6503	SO:0001630	splice_region_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113546027C>G	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1375-1G>C	12.37:g.113546027C>G						RASAL1_uc010syp.1_Missense_Mutation_p.D459H|RASAL1_uc001tul.2_Missense_Mutation_p.D459H|RASAL1_uc001tun.1_Missense_Mutation_p.D460H|RASAL1_uc010syq.1_Missense_Mutation_p.D459H|RASAL1_uc001tuo.3_Missense_Mutation_p.D459H|RASAL1_uc010syr.1_Missense_Mutation_p.D459H	p.D459H	NM_004658	NP_004649	O95294	RASL1_HUMAN			15	1668	-			459			Ras-GAP.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1375G>C	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345417	0.61073	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.79845	2.07;-1.31;-1.31;-1.31	5.0	4.1	0.47936	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.309004	0.17925	U	0.157374	D	0.86058	0.5842	L	0.58669	1.825	0.58432	D	0.999991	D;D;D;D;B;B;D	0.71674	0.994;0.99;0.993;0.998;0.1;0.122;0.997	D;D;P;D;B;B;D	0.70227	0.92;0.917;0.869;0.968;0.073;0.158;0.914	D	0.85499	0.1190	10	0.51188	T	0.08	.	11.6948	0.51538	0.0:0.9099:0.0:0.0901	.	459;459;459;472;460;459;459	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	H	460;459;459;459	ENSP00000450244:D460H;ENSP00000261729:D459H;ENSP00000395920:D459H;ENSP00000448510:D459H	ENSP00000261729:D459H	D	-	1	0	RASAL1	112030410	1.000000	0.71417	0.998000	0.56505	0.753000	0.42808	4.525000	0.60559	2.323000	0.78572	0.555000	0.69702	GAT		PASS	0.532	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658	Missense_Mutation	3	20	3	20	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113557020	113557020	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:113557020C>A	ENST00000261729.5	-	8	870	c.555G>T	c.(553-555)gaG>gaT	p.E185D	RASAL1_ENST00000548055.1_Missense_Mutation_p.E185D|RASAL1_ENST00000546530.1_Missense_Mutation_p.E185D|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.E185D			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	185	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.E185D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TCTCCCGCAGCTCCAGCACTT	0.612																																						uc001tum.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(553-555)GAG>GAT		RAS protein activator like 1							67.0	58.0	61.0					12																	113557020		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113557020C>A	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.555G>T	12.37:g.113557020C>A	ENSP00000261729:p.Glu185Asp					RASAL1_uc010syp.1_Missense_Mutation_p.E185D|RASAL1_uc001tul.2_Missense_Mutation_p.E185D|RASAL1_uc001tun.1_Missense_Mutation_p.E185D|RASAL1_uc010syq.1_Missense_Mutation_p.E185D|RASAL1_uc001tuo.3_Missense_Mutation_p.E185D|RASAL1_uc010syr.1_Missense_Mutation_p.E185D	p.E185D	NM_004658	NP_004649	O95294	RASL1_HUMAN			8	848	-			185			C2 2.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.555G>T	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562429	0.45694	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.46	2.63	0.31362	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.056424	0.64402	D	0.000002	T	0.59459	0.2195	L	0.43152	1.355	0.32040	N	0.598389	B;B;B;B;B;B;B	0.32876	0.383;0.196;0.332;0.383;0.023;0.388;0.332	B;B;B;B;B;B;B	0.40375	0.327;0.209;0.219;0.327;0.046;0.258;0.148	T	0.60969	-0.7157	10	0.33141	T	0.24	.	8.5799	0.33621	0.0:0.6913:0.0:0.3087	.	185;185;185;197;185;185;185	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	D	185	ENSP00000450244:E185D;ENSP00000261729:E185D;ENSP00000395920:E185D;ENSP00000448510:E185D	ENSP00000261729:E185D	E	-	3	2	RASAL1	112041403	1.000000	0.71417	0.999000	0.59377	0.981000	0.71138	2.455000	0.44988	0.274000	0.22072	0.491000	0.48974	GAG		PASS	0.612	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		24	65	24	65	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129563197	129563197	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:129563197G>A	ENST00000422113.2	-	8	2323	c.1997C>T	c.(1996-1998)aCa>aTa	p.T666I	TMEM132D_ENST00000389441.4_Missense_Mutation_p.T204I	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	666					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.T666I(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCGAGGTCTGTGATGGTCAC	0.572																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(1996-1998)ACA>ATA		transmembrane protein 132D precursor							160.0	134.0	143.0					12																	129563197		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129563197G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1997C>T	12.37:g.129563197G>A	ENSP00000408581:p.Thr666Ile					TMEM132D_uc001uia.2_Missense_Mutation_p.T204I	p.T666I	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	2325	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	666			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.1997C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335127	0.60853	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.58210	0.35;0.35	5.06	4.17	0.49024	.	0.200423	0.39615	N	0.001319	T	0.75027	0.3794	M	0.88105	2.93	0.50467	D	0.999875	P;D	0.69078	0.589;0.997	B;D	0.72625	0.2;0.978	T	0.79560	-0.1753	9	.	.	.	-7.0459	13.4067	0.60917	0.0763:0.0:0.9237:0.0	.	666;204	Q14C87;Q14C87-2	T132D_HUMAN;.	I	204;666	ENSP00000374092:T204I;ENSP00000408581:T666I	.	T	-	2	0	TMEM132D	128129150	1.000000	0.71417	0.960000	0.40013	0.987000	0.75469	7.577000	0.82486	1.123000	0.41961	0.563000	0.77884	ACA		PASS	0.572	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		33	90	33	90	---	---	---	---
MMP17	4326	broad.mit.edu	37	12	132335568	132335568	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr12:132335568C>A	ENST00000360564.1	+	10	1663	c.1561C>A	c.(1561-1563)Ctg>Atg	p.L521M	MMP17_ENST00000535004.1_Missense_Mutation_p.L61M|MMP17_ENST00000535291.1_Missense_Mutation_p.L437M	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	521					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L521M(1)|p.R521R(1)		endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	CCGGGACTGGCTGGTGTGTGG	0.672																																						uc001ujc.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)		0						c.(1561-1563)CTG>ATG		matrix metalloproteinase 17 preproprotein							32.0	32.0	32.0					12																	132335568		2203	4300	6503	SO:0001583	missense	4326				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr12:132335568C>A	X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.1561C>A	12.37:g.132335568C>A	ENSP00000353767:p.Leu521Met					MMP17_uc001ujd.1_Missense_Mutation_p.L437M	p.L521M	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	10	1660	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		521			Hemopexin-like 4.		Q14850	Missense_Mutation	SNP	ENST00000360564.1	37	c.1561C>A	CCDS31927.1	.	.	.	.	.	.	.	.	.	.	C	9.765	1.171199	0.21621	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000535004	T;T;T	0.04156	3.69;3.69;3.69	4.91	3.8	0.43715	Hemopexin/matrixin (2);	0.110612	0.44285	D	0.000464	T	0.06371	0.0164	N	0.14661	0.345	0.44175	D	0.99698	D	0.55605	0.972	D	0.64144	0.922	T	0.31392	-0.9945	10	0.02654	T	1	.	12.0261	0.53371	0.0:0.8502:0.0:0.1498	.	521	Q9ULZ9	MMP17_HUMAN	M	521;437;61	ENSP00000353767:L521M;ENSP00000441106:L437M;ENSP00000445620:L61M	ENSP00000353767:L521M	L	+	1	2	MMP17	130901521	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	4.694000	0.61760	2.282000	0.76494	0.491000	0.48974	CTG		PASS	0.672	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397757.1	NM_016155		3	15	3	15	---	---	---	---
TUBA3C	7278	broad.mit.edu	37	13	19751540	19751540	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:19751540G>T	ENST00000400113.3	-	4	687	c.583C>A	c.(583-585)Ctg>Atg	p.L195M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	195					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L195M(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAATGTTCCAGGGTCGTGTGG	0.557																																						uc009zzj.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(2)	5						c.(583-585)CTG>ATG		tubulin, alpha 3c							150.0	147.0	148.0					13																	19751540		2203	4298	6501	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751540G>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.583C>A	13.37:g.19751540G>T	ENSP00000382982:p.Leu195Met						p.L195M	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	632	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	195					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.583C>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	g	9.209	1.030459	0.19512	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.70399	-0.48	1.21	1.21	0.21127	.	0.000000	0.37857	U	0.001911	T	0.73946	0.3652	.	.	.	0.39790	D	0.97241	.	.	.	.	.	.	T	0.76011	-0.3115	7	0.87932	D	0	.	8.3447	0.32266	0.0:0.0:1.0:0.0	.	.	.	.	M	195	ENSP00000382982:L195M	ENSP00000354037:L195M	L	-	1	2	TUBA3C	18649540	1.000000	0.71417	0.992000	0.48379	0.482000	0.33219	4.137000	0.58010	0.976000	0.38417	0.184000	0.17185	CTG		PASS	0.557	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001		76	111	76	111	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23929996	23929996	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:23929996C>A	ENST00000382292.3	-	7	1028	c.755G>T	c.(754-756)gGc>gTc	p.G252V	SACS_ENST00000382298.3_Missense_Mutation_p.G252V|SACS_ENST00000402364.1_5'UTR|SACS_ENST00000476776.1_5'Flank			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	252					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.G105V(1)|p.G252V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCCAAAAATGCCAACAAATGG	0.398																																						uc001uon.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(754-756)GGC>GTC		sacsin							110.0	104.0	106.0					13																	23929996		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23929996C>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.755G>T	13.37:g.23929996C>A	ENSP00000371729:p.Gly252Val					SACS_uc001uoo.2_Missense_Mutation_p.G105V|SACS_uc001uop.1_Missense_Mutation_p.G39V|SACS_uc001uoq.1_Missense_Mutation_p.G105V	p.G252V	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	8	1344	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	252					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.755G>T	CCDS9300.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.3|22.3	4.265007|4.265007	0.80358|0.80358	.|.	.|.	ENSG00000151835|ENSG00000151835	ENST00000382292;ENST00000382298|ENST00000455470	D;D|.	0.82619|.	-1.63;-1.63|.	5.94|5.94	5.94|5.94	0.96194|0.96194	ATPase-like, ATP-binding domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71753|0.71753	0.3377|0.3377	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;P|.	0.76494|.	0.998;0.999;0.803|.	D;D;P|.	0.78314|.	0.966;0.991;0.725|.	T|T	0.65804|0.65804	-0.6079|-0.6079	10|5	0.59425|.	D|.	0.04|.	.|.	20.3736|20.3736	0.98901|0.98901	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	151;39;252|.	B2REB1;E9PAL4;Q9NZJ4|.	.;.;SACS_HUMAN|.	V|C	252|151	ENSP00000371729:G252V;ENSP00000371735:G252V|.	ENSP00000371729:G252V|.	G|W	-|-	2|3	0|0	SACS|SACS	22827996|22827996	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.952000|0.952000	0.60782|0.60782	4.964000|4.964000	0.63701|0.63701	2.820000|2.820000	0.97059|0.97059	0.650000|0.650000	0.86243|0.86243	GGC|TGG		PASS	0.398	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		47	97	47	97	---	---	---	---
MIPEP	4285	broad.mit.edu	37	13	24304513	24304513	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:24304513C>T	ENST00000382172.3	-	19	2214	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	706					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E706K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AGGAAAGTTTCGAAGTCCAGA	0.413																																						uc001uox.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2116-2118)GAA>AAA		mitochondrial intermediate peptidase precursor							111.0	96.0	101.0					13																	24304513		2203	4300	6503	SO:0001583	missense	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24304513C>T		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.2116G>A	13.37:g.24304513C>T	ENSP00000371607:p.Glu706Lys						p.E706K	NM_005932	NP_005923	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	19	2216	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	706					Q5JV15|Q5T9Q9|Q96G65	Missense_Mutation	SNP	ENST00000382172.3	37	c.2116G>A	CCDS9303.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905682	0.92107	.	.	ENSG00000027001	ENST00000382172	T	0.10288	2.89	5.42	5.42	0.78866	.	0.047191	0.85682	D	0.000000	T	0.21674	0.0522	M	0.70595	2.14	0.48452	D	0.999651	D	0.58268	0.982	P	0.47299	0.543	T	0.00970	-1.1496	10	0.56958	D	0.05	.	17.9931	0.89175	0.0:1.0:0.0:0.0	.	706	Q99797	MIPEP_HUMAN	K	706	ENSP00000371607:E706K	ENSP00000371607:E706K	E	-	1	0	MIPEP	23202513	1.000000	0.71417	0.991000	0.47740	0.963000	0.63663	6.116000	0.71571	2.541000	0.85698	0.655000	0.94253	GAA		PASS	0.413	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1			18	37	18	37	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25264605	25264605	+	Missense_Mutation	SNP	T	T	G	rs200826692		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:25264605T>G	ENST00000381946.3	+	6	843	c.676T>G	c.(676-678)Tgt>Ggt	p.C226G	ATP12A_ENST00000218548.6_Missense_Mutation_p.C226G			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	226				Missing (in Ref. 7; CAA49477). {ECO:0000305}.	ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.C226G(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		TTCTCAGGGGTGTCGGGTAAG	0.572																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(676-678)TGT>GGT		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						84.0	82.0	83.0					13																	25264605		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25264605T>G	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.676T>G	13.37:g.25264605T>G	ENSP00000371372:p.Cys226Gly					ATP12A_uc010aaa.2_Missense_Mutation_p.C226G	p.C226G	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	6	863	+		Lung SC(185;0.0225)|Breast(139;0.077)	226	Missing (in Ref. 7; CAA49477).		Cytoplasmic (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.676T>G	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736805	0.49045	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.90324	-2.65;-2.65	4.75	4.75	0.60458	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95382	0.8501	M	0.86953	2.85	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.87578	0.998;0.995	D	0.95862	0.8884	10	0.87932	D	0	.	12.291	0.54819	0.0:0.0:0.0:1.0	.	226;226	P54707-2;P54707	.;AT12A_HUMAN	G	226	ENSP00000218548:C226G;ENSP00000371372:C226G	ENSP00000218548:C226G	C	+	1	0	ATP12A	24162605	1.000000	0.71417	0.447000	0.26932	0.121000	0.20230	7.504000	0.81646	1.988000	0.58038	0.533000	0.62120	TGT		PASS	0.572	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		70	85	70	85	---	---	---	---
ATP12A	479	broad.mit.edu	37	13	25284659	25284659	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:25284659T>C	ENST00000381946.3	+	20	2992	c.2825T>C	c.(2824-2826)cTa>cCa	p.L942P	ATP12A_ENST00000218548.6_Missense_Mutation_p.L948P			P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	942					ATP biosynthetic process (GO:0006754)|ion transmembrane transport (GO:0034220)|potassium ion homeostasis (GO:0055075)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|hydrogen:potassium-exchanging ATPase complex (GO:0005889)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|metal ion binding (GO:0046872)	p.L942P(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)		gttggcatcctagtccagcaa	0.527																																					Pancreas(156;1582 1935 18898 22665 26498)	uc001upp.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1)	6						c.(2824-2826)CTA>CCA		hydrogen/potassium-exchanging ATPase 12A	Esomeprazole(DB00736)|Pantoprazole(DB00213)						109.0	108.0	108.0					13																	25284659		2203	4300	6503	SO:0001583	missense	479				ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	g.chr13:25284659T>C	L42558	CCDS31948.1, CCDS53858.1	13q11-q12.1	2010-04-20	2002-02-25		ENSG00000075673	ENSG00000075673	3.6.3.10	"""ATPases / P-type"""	13816	protein-coding gene	gene with protein product	"""ATPase, Na+K+ transporting, alpha-1 polypeptide-like"", ""potassium-transporting ATPase alpha chain 2"", ""proton pump"", ""non-gastric H(+)/K(+) ATPase alpha subunit"", ""sodium/potassium ATPase, alpha polypeptide-like"""	182360	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 1"""	ATP1AL1		8838794, 2842249	Standard	NM_001676		Approved		uc010aaa.3	P54707	OTTHUMG00000016588	ENST00000381946.3:c.2825T>C	13.37:g.25284659T>C	ENSP00000371372:p.Leu942Pro					ATP12A_uc010aaa.2_Missense_Mutation_p.L948P	p.L942P	NM_001676	NP_001667	P54707	AT12A_HUMAN		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	20	3012	+		Lung SC(185;0.0225)|Breast(139;0.077)	942			Helical; (Potential).		Q13816|Q13817|Q16734|Q5W035|Q8N5U2	Missense_Mutation	SNP	ENST00000381946.3	37	c.2825T>C	CCDS31948.1	.	.	.	.	.	.	.	.	.	.	T	16.96	3.266206	0.59540	.	.	ENSG00000075673	ENST00000218548;ENST00000381946	D;D	0.96041	-3.89;-3.89	5.49	5.49	0.81192	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.298004	0.37623	N	0.002020	D	0.90954	0.7156	N	0.14661	0.345	0.58432	D	0.999996	B;B	0.32071	0.244;0.355	B;B	0.35859	0.212;0.185	D	0.90871	0.4746	10	0.87932	D	0	.	13.5653	0.61815	0.0:0.0:0.0:1.0	.	948;942	P54707-2;P54707	.;AT12A_HUMAN	P	948;942	ENSP00000218548:L948P;ENSP00000371372:L942P	ENSP00000218548:L948P	L	+	2	0	ATP12A	24182659	1.000000	0.71417	0.966000	0.40874	0.816000	0.46133	3.113000	0.50376	2.076000	0.62316	0.533000	0.62120	CTA		PASS	0.527	ATP12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044199.1	NM_001676		80	121	80	121	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32752551	32752551	+	Missense_Mutation	SNP	G	G	T	rs200488673		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:32752551G>T	ENST00000380250.3	+	21	3155	c.2659G>T	c.(2659-2661)Gtg>Ttg	p.V887L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	887						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.V887L(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCTCCAGTCGGTGATGCCTCT	0.507																																						uc001utx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(2659-2661)GTG>TTG		furry homolog							108.0	120.0	116.0					13																	32752551		2182	4286	6468	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32752551G>T	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2659G>T	13.37:g.32752551G>T	ENSP00000369600:p.Val887Leu					FRY_uc010tdw.1_RNA	p.V887L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	21	3155	+		Lung SC(185;0.0271)	887					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.2659G>T	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	5.108	0.205625	0.09704	.	.	ENSG00000073910	ENST00000380250	T	0.18016	2.24	5.5	4.66	0.58398	.	0.217302	0.40908	D	0.000985	T	0.02767	0.0083	N	0.00159	-1.955	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30060	-0.9991	10	0.02654	T	1	.	7.0286	0.24954	0.1612:0.1436:0.6952:0.0	.	887	Q5TBA9	FRY_HUMAN	L	887	ENSP00000369600:V887L	ENSP00000369600:V887L	V	+	1	0	FRY	31650551	0.988000	0.35896	0.814000	0.32528	0.987000	0.75469	2.427000	0.44740	1.327000	0.45338	0.650000	0.86243	GTG		PASS	0.507	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		69	215	69	215	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32798403	32798403	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:32798403G>C	ENST00000380250.3	+	37	5293	c.4797G>C	c.(4795-4797)ttG>ttC	p.L1599F		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1599						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.L1599F(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGGGCTGGTTGCTGACTATTA	0.512																																						uc001utx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(4795-4797)TTG>TTC		furry homolog							70.0	71.0	71.0					13																	32798403		1872	4105	5977	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32798403G>C	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.4797G>C	13.37:g.32798403G>C	ENSP00000369600:p.Leu1599Phe					FRY_uc010tdw.1_RNA	p.L1599F	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	37	5293	+		Lung SC(185;0.0271)	1599					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.4797G>C	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.050224	0.36181	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.24151	1.87	5.44	-1.36	0.09085	.	0.000000	0.64402	D	0.000003	T	0.13970	0.0338	L	0.51422	1.61	0.80722	D	1	P	0.36465	0.554	B	0.35182	0.197	T	0.22068	-1.0227	10	0.09843	T	0.71	.	1.7193	0.02908	0.4251:0.1338:0.3067:0.1344	.	1599	Q5TBA9	FRY_HUMAN	F	1599;436	ENSP00000369600:L1599F	ENSP00000369600:L1599F	L	+	3	2	FRY	31696403	0.751000	0.28327	0.087000	0.20705	0.988000	0.76386	0.489000	0.22387	-0.181000	0.10619	0.411000	0.27672	TTG		PASS	0.512	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		66	80	66	80	---	---	---	---
FRY	10129	broad.mit.edu	37	13	32813445	32813445	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:32813445C>A	ENST00000380250.3	+	45	6971	c.6475C>A	c.(6475-6477)Ccc>Acc	p.P2159T		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2159						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.P2159T(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TTTTGAAAATCCCAATCAGTT	0.443																																						uc001utx.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(1)|skin(1)	7						c.(6475-6477)CCC>ACC		furry homolog							134.0	122.0	125.0					13																	32813445		1885	4119	6004	SO:0001583	missense	10129				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		g.chr13:32813445C>A	AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.6475C>A	13.37:g.32813445C>A	ENSP00000369600:p.Pro2159Thr					FRY_uc010tdw.1_RNA	p.P2159T	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)	45	6971	+		Lung SC(185;0.0271)	2159					Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	c.6475C>A	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083453	0.94050	.	.	ENSG00000073910	ENST00000380250;ENST00000380257	T	0.26957	1.7	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.54224	0.1845	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.48822	-0.9001	10	0.45353	T	0.12	.	20.0572	0.97657	0.0:1.0:0.0:0.0	.	2159	Q5TBA9	FRY_HUMAN	T	2159;996	ENSP00000369600:P2159T	ENSP00000369600:P2159T	P	+	1	0	FRY	31711445	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.635000	0.83286	2.826000	0.97356	0.655000	0.94253	CCC		PASS	0.443	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1	NM_023037		45	165	45	165	---	---	---	---
BRCA2	675	broad.mit.edu	37	13	32912926	32912926	+	Silent	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:32912926A>G	ENST00000380152.3	+	11	4667	c.4434A>G	c.(4432-4434)ctA>ctG	p.L1478L	BRCA2_ENST00000544455.1_Silent_p.L1478L			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1478	Interaction with POLH.|Required for stimulation of POLH DNA polymerization activity.				brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.L1478L(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGGACATTCTAAGTTATGAGG	0.338			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	uc001uub.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	D|Mis|N|F|S	familial breast/ovarian cancer gene 2			"""L, E"""		breast|ovarian|pancreatic|leukemia  (FANCB|FANCD1)	breast|ovarian|pancreatic		2	Substitution - coding silent(2)		lung(2)	ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1)	64						c.(4432-4434)CTA>CTG	Direct_reversal_of_damage|Homologous_recombination	breast cancer 2, early onset							51.0	56.0	54.0					13																	32912926		2202	4295	6497	SO:0001819	synonymous_variant	675	Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912926A>G	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.4434A>G	13.37:g.32912926A>G		TCGA Ovarian(8;0.087)					p.L1478L	NM_000059	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	4661	+		Lung SC(185;0.0262)	1478					O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	c.4434A>G	CCDS9344.1																																																																																				PASS	0.338	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		95	106	95	106	---	---	---	---
NBEA	26960	broad.mit.edu	37	13	35770090	35770090	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:35770090A>G	ENST00000400445.3	+	31	5551	c.5017A>G	c.(5017-5019)Aca>Gca	p.T1673A	NBEA_ENST00000310336.4_Missense_Mutation_p.T1673A|NBEA_ENST00000379939.2_Missense_Mutation_p.T1670A|NBEA_ENST00000540320.1_Missense_Mutation_p.T1673A	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1673					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.T1673A(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AATTCCCCATACAGATTCAGG	0.428																																						uc001uvb.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|large_intestine(2)	11						c.(5017-5019)ACA>GCA		neurobeachin							66.0	66.0	66.0					13																	35770090		1857	4103	5960	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35770090A>G	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5017A>G	13.37:g.35770090A>G	ENSP00000383295:p.Thr1673Ala					NBEA_uc010abi.2_Missense_Mutation_p.T329A	p.T1673A	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	31	5223	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1673					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.5017A>G	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	12.16	1.855946	0.32791	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.50813	0.74;0.73;0.73;0.74	6.07	6.07	0.98685	.	0.055357	0.64402	D	0.000001	T	0.39600	0.1084	L	0.29908	0.895	0.80722	D	1	B;B	0.21688	0.015;0.059	B;B	0.24155	0.017;0.051	T	0.14200	-1.0481	10	0.29301	T	0.29	.	16.635	0.85050	1.0:0.0:0.0:0.0	.	1673;1670	Q8NFP9;Q5T321	NBEA_HUMAN;.	A	1673;1673;1670;1673;300	ENSP00000440951:T1673A;ENSP00000383295:T1673A;ENSP00000369271:T1670A;ENSP00000308534:T1673A	ENSP00000308534:T1673A	T	+	1	0	NBEA	34668090	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.587000	0.67510	2.330000	0.79161	0.477000	0.44152	ACA		PASS	0.428	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678		35	68	35	68	---	---	---	---
PROSER1	80209	broad.mit.edu	37	13	39603500	39603500	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:39603500C>G	ENST00000352251.3	-	4	1026	c.193G>C	c.(193-195)Gtc>Ctc	p.V65L	PROSER1_ENST00000350125.3_Missense_Mutation_p.V43L	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	65								p.V65L(1)									GTTGGCTGGACAGCCACCATT	0.318																																						uc001uwy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)	5						c.(193-195)GTC>CTC		hypothetical protein LOC80209 isoform 1							73.0	71.0	72.0					13																	39603500		1801	4071	5872	SO:0001583	missense	80209							g.chr13:39603500C>G	AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.193G>C	13.37:g.39603500C>G	ENSP00000332034:p.Val65Leu					C13orf23_uc001uwz.2_Missense_Mutation_p.V43L	p.V65L	NM_025138	NP_079414	Q86XN7	CM023_HUMAN		all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146)	4	1066	-		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)	65					A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	ENST00000352251.3	37	c.193G>C	CCDS9368.2	.	.	.	.	.	.	.	.	.	.	C	14.30	2.493684	0.44352	.	.	ENSG00000120685	ENST00000352251;ENST00000350125;ENST00000436678;ENST00000418503	T;T	0.36340	1.38;1.26	5.19	5.19	0.71726	.	.	.	.	.	T	0.38401	0.1039	N	0.14661	0.345	0.41275	D	0.986875	P;D	0.67145	0.936;0.996	P;D	0.76071	0.64;0.987	T	0.19192	-1.0313	8	.	.	.	-21.139	9.7764	0.40621	0.0:0.906:0.0:0.094	.	43;65	A6NJ97;Q86XN7	.;PRSR1_HUMAN	L	65;43;44;43	ENSP00000332034:V65L;ENSP00000339123:V43L	.	V	-	1	0	PROSER1	38501500	1.000000	0.71417	1.000000	0.80357	0.669000	0.39330	3.303000	0.51858	2.402000	0.81655	0.491000	0.48974	GTC		PASS	0.318	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044607.5	NM_025138		14	106	14	106	---	---	---	---
NEK5	341676	broad.mit.edu	37	13	52657401	52657401	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:52657401C>A	ENST00000355568.4	-	17	1706	c.1567G>T	c.(1567-1569)Gtg>Ttg	p.V523L		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	523					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.V580L(1)|p.V523L(1)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATTACCTGCACAGGTGCTTCT	0.458																																						uc001vge.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)	1						c.(1567-1569)GTG>TTG		NIMA-related kinase 5							206.0	163.0	178.0					13																	52657401		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52657401C>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1567G>T	13.37:g.52657401C>A	ENSP00000347767:p.Val523Leu						p.V523L	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	17	1707	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	523					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1567G>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	8.453	0.853607	0.17106	.	.	ENSG00000197168	ENST00000355568	T	0.28895	1.59	5.5	3.74	0.42951	.	0.138436	0.29638	N	0.011585	T	0.18759	0.0450	L	0.51422	1.61	0.09310	N	1	P	0.34977	0.478	B	0.27608	0.081	T	0.16630	-1.0396	10	0.06365	T	0.9	.	6.8918	0.24234	0.0:0.7932:0.0:0.2068	.	523	Q6P3R8	NEK5_HUMAN	L	523	ENSP00000347767:V523L	ENSP00000347767:V523L	V	-	1	0	NEK5	51555402	0.000000	0.05858	0.435000	0.26784	0.442000	0.32017	0.507000	0.22675	1.307000	0.44944	0.305000	0.20034	GTG		PASS	0.458	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		11	78	11	78	---	---	---	---
OLFM4	10562	broad.mit.edu	37	13	53603017	53603017	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:53603017G>T	ENST00000219022.2	+	1	124	c.46G>T	c.(46-48)Ggc>Tgc	p.G16C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	16					cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)	p.G16C(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GTTCTTCCTTGGCCAAGCTGC	0.587																																						uc001vhl.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(46-48)GGC>TGC		olfactomedin 4 precursor							117.0	120.0	119.0					13																	53603017		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53603017G>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.46G>T	13.37:g.53603017G>T	ENSP00000219022:p.Gly16Cys					OLFM4_uc001vhk.1_Missense_Mutation_p.G16C	p.G16C	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	1	46	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	16					O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.46G>T	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781229	0.31502	.	.	ENSG00000102837	ENST00000219022	D	0.92397	-3.03	4.03	-1.77	0.07982	.	1.111320	0.06809	N	0.790113	D	0.84192	0.5418	L	0.29908	0.895	0.09310	N	1	B	0.14805	0.011	B	0.14023	0.01	T	0.69960	-0.5003	10	0.87932	D	0	.	1.9236	0.03313	0.1188:0.164:0.4203:0.2969	.	16	Q6UX06	OLFM4_HUMAN	C	16	ENSP00000219022:G16C	ENSP00000219022:G16C	G	+	1	0	OLFM4	52501018	0.000000	0.05858	0.000000	0.03702	0.237000	0.25408	-0.435000	0.06931	-0.385000	0.07833	0.655000	0.94253	GGC		PASS	0.587	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		83	159	83	159	---	---	---	---
PCDH9	5101	broad.mit.edu	37	13	67477735	67477735	+	Silent	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:67477735A>G	ENST00000377865.2	-	2	3173	c.3039T>C	c.(3037-3039)tgT>tgC	p.C1013C	PCDH9_ENST00000456367.1_Intron|PCDH9-AS2_ENST00000419371.2_RNA|PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000544246.1_Silent_p.C1013C			Q9HC56	PCDH9_HUMAN	protocadherin 9	1013					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C1013C(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TGTGTGAGTTACACTGAAAGA	0.418																																						uc001vik.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)|skin(1)	6						c.(3037-3039)TGT>TGC		protocadherin 9 isoform 1 precursor							98.0	90.0	93.0					13																	67477735		2203	4300	6503	SO:0001819	synonymous_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67477735A>G	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3039T>C	13.37:g.67477735A>G						PCDH9_uc010aei.2_RNA|PCDH9_uc001vil.2_Intron|PCDH9_uc010thl.1_Silent_p.C1013C	p.C1013C	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	3	3731	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1013			Cytoplasmic (Potential).		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	c.3039T>C	CCDS9444.1																																																																																				PASS	0.418	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		32	29	32	29	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100637597	100637597	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:100637597G>A	ENST00000376335.3	+	3	1553	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	420					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q420Q(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTCCCCGCAGGGCTCTGAAT	0.706																																					Pancreas(97;119 1522 31925 44771 48764)	uc001von.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1258-1260)CAG>CAA		zinc finger protein of the cerebellum 2							13.0	17.0	16.0					13																	100637597		1975	4204	6179	SO:0001819	synonymous_variant	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100637597G>A	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.1260G>A	13.37:g.100637597G>A							p.Q420Q	NM_007129	NP_009060	O95409	ZIC2_HUMAN			3	1260	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		420					Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	c.1260G>A	CCDS9495.1																																																																																				PASS	0.706	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		9	25	9	25	---	---	---	---
COL4A2	1284	broad.mit.edu	37	13	111117775	111117775	+	Silent	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:111117775A>G	ENST00000360467.5	+	25	2106	c.1800A>G	c.(1798-1800)ccA>ccG	p.P600P	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	600	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.P600P(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGGCCCTCCAGGGGACCCAG	0.512																																						uc001vqx.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|central_nervous_system(2)|ovary(1)	6						c.(1798-1800)CCA>CCG		alpha 2 type IV collagen preproprotein							43.0	48.0	47.0					13																	111117775		1813	4075	5888	SO:0001819	synonymous_variant	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111117775A>G	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1800A>G	13.37:g.111117775A>G							p.P600P	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		25	2089	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	600			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	c.1800A>G	CCDS41907.1																																																																																				PASS	0.512	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		52	80	52	80	---	---	---	---
TFDP1	7027	broad.mit.edu	37	13	114287509	114287509	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr13:114287509A>C	ENST00000375370.5	+	6	595	c.383A>C	c.(382-384)cAg>cCg	p.Q128P	TFDP1_ENST00000465174.1_3'UTR|TFDP1_ENST00000538138.1_Missense_Mutation_p.Q33P|TFDP1_ENST00000544902.1_Missense_Mutation_p.Q33P	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	128					anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.Q128P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GAGAAGGTGCAGAGGAAAGGG	0.502										TSP Lung(29;0.18)																												uc001vtw.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(2)|skin(1)	7						c.(382-384)CAG>CCG		transcription factor Dp-1							74.0	66.0	69.0					13																	114287509		2203	4300	6503	SO:0001583	missense	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114287509A>C	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.383A>C	13.37:g.114287509A>C	ENSP00000364519:p.Gln128Pro	TSP Lung(29;0.18)				TFDP1_uc010tkd.1_Missense_Mutation_p.Q33P|TFDP1_uc010tke.1_Missense_Mutation_p.Q33P|TFDP1_uc001vty.3_Missense_Mutation_p.Q128P|TFDP1_uc001vtx.2_Missense_Mutation_p.Q8P|TFDP1_uc010agx.2_Missense_Mutation_p.Q128P	p.Q128P	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		6	595	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	128			Potential.		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	c.383A>C	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946691	0.73672	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902;ENST00000408980;ENST00000453989	T;T;T;T;T	0.50001	0.76;1.72;0.81;1.37;1.3	4.12	4.12	0.48240	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	M	0.86573	2.825	0.80722	D	1	D;D;D;D;D;D	0.71674	0.997;0.985;0.991;0.998;0.997;0.992	P;P;P;P;D;P	0.66351	0.905;0.905;0.834;0.897;0.943;0.9	T	0.76578	-0.2908	10	0.87932	D	0	.	13.1425	0.59442	1.0:0.0:0.0:0.0	.	33;33;128;128;33;128	F5H452;B4DLQ9;Q5JSB5;Q5JSB6;B7Z569;Q14186	.;.;.;.;.;TFDP1_HUMAN	P	33;128;33;128;128	ENSP00000443878:Q33P;ENSP00000364519:Q128P;ENSP00000438450:Q33P;ENSP00000386145:Q128P;ENSP00000401389:Q128P	ENSP00000364519:Q128P	Q	+	2	0	TFDP1	113335510	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.022000	0.76431	1.505000	0.48720	0.402000	0.26972	CAG		PASS	0.502	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		11	57	11	57	---	---	---	---
OR4K15	81127	broad.mit.edu	37	14	20444091	20444091	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:20444091C>T	ENST00000305051.5	+	1	489	c.414C>T	c.(412-414)ctC>ctT	p.L138L		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	138						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L138L(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AAATGGTGCTCCTAGTTTCCA	0.458																																						uc010tkx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(412-414)CTC>CTT		olfactory receptor, family 4, subfamily K,							135.0	135.0	135.0					14																	20444091		2203	4296	6499	SO:0001819	synonymous_variant	81127				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20444091C>T		CCDS32026.1	14q11.2	2013-09-23			ENSG00000169488	ENSG00000169488		"""GPCR / Class A : Olfactory receptors"""	15353	protein-coding gene	gene with protein product							Standard	NM_001005486		Approved	OR4K15Q	uc010tkx.2	Q8NH41	OTTHUMG00000170635	ENST00000305051.5:c.414C>T	14.37:g.20444091C>T							p.L138L	NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	414	+	all_cancers(95;0.00108)		138			Helical; Name=3; (Potential).		B9EIL3|Q6IEZ4	Silent	SNP	ENST00000305051.5	37	c.414C>T	CCDS32026.1																																																																																				PASS	0.458	OR4K15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409883.1			56	167	56	167	---	---	---	---
TTC5	91875	broad.mit.edu	37	14	20770004	20770004	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:20770004C>G	ENST00000258821.3	-	2	228	c.172G>C	c.(172-174)Gaa>Caa	p.E58Q		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	58					DNA repair (GO:0006281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E58Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ACTACTTCTTCCATCTGCTGT	0.468																																						uc001vwt.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(172-174)GAA>CAA		tetratricopeptide repeat domain 5							251.0	194.0	213.0					14																	20770004		2203	4300	6503	SO:0001583	missense	91875				DNA repair	cytoplasm|nucleus	binding	g.chr14:20770004C>G	BC008647	CCDS9546.1	14q11.2	2013-01-11			ENSG00000136319	ENSG00000136319		"""Tetratricopeptide (TTC) repeat domain containing"""	19274	protein-coding gene	gene with protein product						11511361	Standard	NM_138376		Approved	Strap	uc001vwt.3	Q8N0Z6	OTTHUMG00000029506	ENST00000258821.3:c.172G>C	14.37:g.20770004C>G	ENSP00000258821:p.Glu58Gln					TTC5_uc001vwu.2_5'UTR	p.E58Q	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)	2	229	-	all_cancers(95;0.00092)		58					A8MQ18|Q96HF9	Missense_Mutation	SNP	ENST00000258821.3	37	c.172G>C	CCDS9546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.11|13.11	2.139786|2.139786	0.37728|0.37728	.|.	.|.	ENSG00000136319|ENSG00000136319	ENST00000258821;ENST00000553828|ENST00000423949	T|.	0.33865|.	1.39|.	4.59|4.59	2.69|2.69	0.31865|0.31865	Tetratricopeptide-like helical (1);|.	0.225856|.	0.43747|.	N|.	0.000536|.	T|T	0.46034|0.46034	0.1372|0.1372	L|L	0.35723|0.35723	1.085|1.085	0.38714|0.38714	D|D	0.953293|0.953293	B|.	0.18461|.	0.028|.	B|.	0.13407|.	0.009|.	T|T	0.33523|0.33523	-0.9865|-0.9865	10|5	0.46703|.	T|.	0.11|.	.|.	8.4689|8.4689	0.32973|0.32973	0.0:0.7566:0.1562:0.0872|0.0:0.7566:0.1562:0.0872	.|.	58|.	Q8N0Z6|.	TTC5_HUMAN|.	Q|A	58;9|57	ENSP00000258821:E58Q|.	ENSP00000258821:E58Q|.	E|G	-|-	1|2	0|0	TTC5|TTC5	19839844|19839844	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.900000|0.900000	0.52787|0.52787	2.238000|2.238000	0.43070|0.43070	0.513000|0.513000	0.28278|0.28278	0.650000|0.650000	0.86243|0.86243	GAA|GGA		PASS	0.468	TTC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073529.4	NM_138376		22	88	22	88	---	---	---	---
OR10G3	26533	broad.mit.edu	37	14	22038500	22038500	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:22038500C>T	ENST00000303532.1	-	1	375	c.376G>A	c.(376-378)Gca>Aca	p.A126T		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A126T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		TGACATATTGCCAGGTACCTG	0.552																																						uc010tmb.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(376-378)GCA>ACA		olfactory receptor, family 10, subfamily G,							57.0	55.0	56.0					14																	22038500		2203	4300	6503	SO:0001583	missense	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038500C>T		CCDS32046.1	14q11.2	2013-09-24			ENSG00000169208	ENSG00000169208		"""GPCR / Class A : Olfactory receptors"""	8171	protein-coding gene	gene with protein product						8188290	Standard	NM_001005465		Approved		uc010tmb.2	Q8NGC4	OTTHUMG00000168886	ENST00000303532.1:c.376G>A	14.37:g.22038500C>T	ENSP00000302437:p.Ala126Thr						p.A126T	NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	376	-	all_cancers(95;0.000987)		126			Cytoplasmic (Potential).		Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	c.376G>A	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.782023	0.90282	.	.	ENSG00000169208	ENST00000303532	T	0.01947	4.54	5.11	5.11	0.69529	GPCR, rhodopsin-like superfamily (1);	0.121948	0.36519	N	0.002547	T	0.19287	0.0463	M	0.94063	3.49	0.46356	D	0.999009	D	0.89917	1.0	D	0.97110	1.0	T	0.03095	-1.1073	10	0.87932	D	0	-13.9133	16.3832	0.83489	0.0:1.0:0.0:0.0	.	126	Q8NGC4	O10G3_HUMAN	T	126	ENSP00000302437:A126T	ENSP00000302437:A126T	A	-	1	0	OR10G3	21108340	1.000000	0.71417	0.997000	0.53966	0.885000	0.51271	4.460000	0.60108	2.531000	0.85337	0.585000	0.79938	GCA		PASS	0.552	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			10	45	10	45	---	---	---	---
DHRS2	10202	broad.mit.edu	37	14	24108548	24108548	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:24108548G>A	ENST00000250383.6	+	3	777	c.301G>A	c.(301-303)Gag>Aag	p.E101K	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.E101K	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	101					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)	p.E101K(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		TGAGGACCGGGAGCAGCTGGT	0.657																																						uc001wkt.3																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(301-303)GAG>AAG		dehydrogenase/reductase member 2 isoform 1							24.0	27.0	26.0					14																	24108548		2202	4300	6502	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108548G>A		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.301G>A	14.37:g.24108548G>A	ENSP00000250383:p.Glu101Lys					DHRS2_uc010aku.1_Missense_Mutation_p.E101K|DHRS2_uc001wku.3_Missense_Mutation_p.E101K|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Missense_Mutation_p.E101K	p.E101K	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	3	748	+			79					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.301G>A	CCDS9604.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	9.651|9.651	1.141633|1.141633	0.21205|0.21205	.|.	.|.	ENSG00000100867|ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777;ENST00000553600|ENST00000557535	T;T;T;T|.	0.23147|.	1.92;1.92;1.92;1.92|.	4.91|4.91	2.99|2.99	0.34606|0.34606	NAD(P)-binding domain (1);|.	0.109016|.	0.64402|.	D|.	0.000012|.	T|T	0.29423|0.29423	0.0733|0.0733	N|N	0.04508|0.04508	-0.205|-0.205	0.46798|0.46798	D|D	0.999207|0.999207	B;B;B;B|.	0.12630|.	0.0;0.001;0.006;0.001|.	B;B;B;B|.	0.12156|.	0.004;0.004;0.007;0.004|.	T|T	0.05582|0.05582	-1.0876|-1.0876	10|5	0.10111|.	T|.	0.7|.	.|.	8.4901|8.4901	0.33095|0.33095	0.0905:0.1623:0.7472:0.0|0.0905:0.1623:0.7472:0.0	.|.	79;101;101;79|.	Q13268;C9JZP6;D3DS54;Q13268-2|.	DHRS2_HUMAN;.;.;.|.	K|E	101;101;101;1|16	ENSP00000401213:E101K;ENSP00000250383:E101K;ENSP00000344674:E101K;ENSP00000451485:E1K|.	ENSP00000250383:E101K|.	E|G	+|+	1|2	0|0	DHRS2|DHRS2	23178388|23178388	0.919000|0.919000	0.31177|0.31177	0.849000|0.849000	0.33467|0.33467	0.031000|0.031000	0.12232|0.12232	1.106000|1.106000	0.31098|0.31098	1.253000|1.253000	0.44018|0.44018	0.491000|0.491000	0.48974|0.48974	GAG|GGA		PASS	0.657	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		19	26	19	26	---	---	---	---
DHRS2	10202	broad.mit.edu	37	14	24113371	24113371	+	Splice_Site	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:24113371G>T	ENST00000250383.6	+	6	1016	c.540G>T	c.(538-540)gtG>gtT	p.V180V	DHRS2_ENST00000344777.7_Splice_Site_p.V180V	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	180					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)	p.V180V(2)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ATCCAGTAGTGGTAAGTGCTT	0.498																																						uc001wkt.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(538-540)GTG>GTT		dehydrogenase/reductase member 2 isoform 1							251.0	210.0	224.0					14																	24113371		2203	4300	6503	SO:0001630	splice_region_variant	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24113371G>T		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.540+1G>T	14.37:g.24113371G>T						DHRS2_uc001wku.3_Silent_p.V180V|DHRS2_uc010akv.2_RNA|DHRS2_uc001wkv.3_Silent_p.V180V	p.V180V	NM_182908	NP_878912	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	6	987	+			158					D3DS54|Q53GS4|Q7Z789|Q9H2R2	Silent	SNP	ENST00000250383.6	37	c.540G>T	CCDS9604.1	.	.	.	.	.	.	.	.	.	.	G	5.088	0.201917	0.09652	.	.	ENSG00000100867	ENST00000557535	.	.	.	5.35	-2.75	0.05914	.	.	.	.	.	T	0.18130	0.0435	.	.	.	0.28478	N	0.915096	.	.	.	.	.	.	T	0.28808	-1.0032	4	.	.	.	.	0.6948	0.00897	0.2486:0.1235:0.2198:0.4081	.	.	.	.	C	96	.	.	G	+	1	0	DHRS2	23183211	0.873000	0.30073	0.003000	0.11579	0.130000	0.20726	0.956000	0.29202	-0.362000	0.08113	-0.182000	0.12963	GGC		PASS	0.498	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908	Silent	45	105	45	105	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26917820	26917820	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:26917820C>A	ENST00000539517.2	-	5	1186	c.869G>T	c.(868-870)gGa>gTa	p.G290V	NOVA1_ENST00000267422.7_Missense_Mutation_p.G168V|NOVA1_ENST00000465357.2_Missense_Mutation_p.G266V	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	293	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G290V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GTTAGCATGTCCTAATAGCCC	0.498																																						uc001wpy.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1)	5						c.(868-870)GGA>GTA		neuro-oncological ventral antigen 1 isoform 1							81.0	76.0	78.0					14																	26917820		2203	4300	6503	SO:0001583	missense	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26917820C>A	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.869G>T	14.37:g.26917820C>A	ENSP00000438875:p.Gly290Val					NOVA1_uc001wpz.2_Missense_Mutation_p.G266V|NOVA1_uc001wqa.2_Missense_Mutation_p.G168V	p.G290V	NM_002515	NP_002506	P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	5	1187	-			293			Ala-rich.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	c.869G>T	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968701	0.34754	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.44881	1.33;1.29;1.19;0.91	5.93	5.93	0.95920	.	0.078428	0.53938	D	0.000053	T	0.60547	0.2277	L	0.43152	1.355	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.922;0.996;0.998	T	0.58261	-0.7667	10	0.59425	D	0.04	-7.6256	20.3363	0.98740	0.0:1.0:0.0:0.0	.	293;266;290	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	V	266;290;168;249	ENSP00000447391:G266V;ENSP00000438875:G290V;ENSP00000267422:G168V;ENSP00000408914:G249V	ENSP00000267422:G168V	G	-	2	0	NOVA1	25987660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.814000	0.96858	0.563000	0.77884	GGA		PASS	0.498	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491		14	71	14	71	---	---	---	---
PRKD1	5587	broad.mit.edu	37	14	30194873	30194873	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:30194873T>G	ENST00000331968.5	-	2	501	c.272A>C	c.(271-273)gAa>gCa	p.E91A	PRKD1_ENST00000415220.2_Missense_Mutation_p.E91A	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	91					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)	p.E91A(2)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GAAACCACATTCAGGGAACTG	0.383																																						uc001wqh.2																			2	Substitution - Missense(2)		lung(2)	lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(271-273)GAA>GCA		protein kinase D1							92.0	84.0	86.0					14																	30194873		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30194873T>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.272A>C	14.37:g.30194873T>G	ENSP00000333568:p.Glu91Ala						p.E91A	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	2	453	-	Hepatocellular(127;0.0604)		91					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.272A>C	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548443	0.86127	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	T;T;D	0.94376	-0.58;-0.55;-3.41	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	D	0.94988	0.8378	M	0.77313	2.365	0.80722	D	1	P	0.47604	0.898	P	0.50490	0.642	D	0.95433	0.8518	10	0.72032	D	0.01	-15.0176	15.6775	0.77338	0.0:0.0:0.0:1.0	.	91	Q15139	KPCD1_HUMAN	A	91;91;14	ENSP00000333568:E91A;ENSP00000390535:E91A;ENSP00000446866:E14A	ENSP00000333568:E91A	E	-	2	0	PRKD1	29264624	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.036000	0.88901	2.107000	0.64212	0.459000	0.35465	GAA		PASS	0.383	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		3	86	3	86	---	---	---	---
CLEC14A	161198	broad.mit.edu	37	14	38724223	38724223	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:38724223T>G	ENST00000342213.2	-	1	1351	c.1005A>C	c.(1003-1005)gaA>gaC	p.E335D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	335						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.E335D(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		AATTGTCTTGTTCAGGGACAA	0.562																																						uc001wum.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1003-1005)GAA>GAC		C-type lectin domain family 14, member A							99.0	84.0	89.0					14																	38724223		2203	4300	6503	SO:0001583	missense	161198					integral to membrane	sugar binding	g.chr14:38724223T>G		CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.1005A>C	14.37:g.38724223T>G	ENSP00000353013:p.Glu335Asp						p.E335D	NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)	1	1352	-	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		335			Extracellular (Potential).		Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	ENST00000342213.2	37	c.1005A>C	CCDS9667.1	.	.	.	.	.	.	.	.	.	.	T	10.69	1.421212	0.25639	.	.	ENSG00000176435	ENST00000342213;ENST00000546356	T	0.74526	-0.85	3.93	2.79	0.32731	.	1.349240	0.05795	U	0.611102	T	0.58264	0.2110	N	0.19112	0.55	0.09310	N	1	B	0.24721	0.11	B	0.24155	0.051	T	0.45571	-0.9252	10	0.18276	T	0.48	-0.0712	5.9816	0.19411	0.0:0.1171:0.0:0.8829	.	335	Q86T13	CLC14_HUMAN	D	335;100	ENSP00000353013:E335D	ENSP00000353013:E335D	E	-	3	2	CLEC14A	37793974	0.045000	0.20229	0.045000	0.18777	0.274000	0.26718	3.008000	0.49544	0.870000	0.35726	0.460000	0.39030	GAA		PASS	0.562	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276729.1	NM_175060		20	92	20	92	---	---	---	---
PNN	5411	broad.mit.edu	37	14	39650827	39650827	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:39650827G>T	ENST00000216832.4	+	9	1981	c.1914G>T	c.(1912-1914)cgG>cgT	p.R638R	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	638	Arg-rich.|Necessary for interaction with PPIG.|Ser-rich.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.R638R(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GTAGGGGCCGGGGACATAATA	0.473																																						uc001wuw.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1912-1914)CGG>CGT		pinin, desmosome associated protein							77.0	75.0	75.0					14																	39650827		2203	4300	6503	SO:0001819	synonymous_variant	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39650827G>T	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.1914G>T	14.37:g.39650827G>T							p.R638R	NM_002687	NP_002678	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	9	2011	+	Hepatocellular(127;0.213)		638			Ser-rich.|Arg-rich.|Necessary for interaction with PPIG.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Silent	SNP	ENST00000216832.4	37	c.1914G>T	CCDS9671.1																																																																																				PASS	0.473	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	NM_002687		19	54	19	54	---	---	---	---
KTN1	3895	broad.mit.edu	37	14	56146364	56146364	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:56146364C>A	ENST00000395314.3	+	43	4098	c.4030C>A	c.(4030-4032)Caa>Aaa	p.Q1344K	KTN1_ENST00000438792.2_Missense_Mutation_p.Q1287K|KTN1_ENST00000395309.3_Missense_Mutation_p.Q1344K|KTN1_ENST00000413890.2_Missense_Mutation_p.Q1293K|KTN1_ENST00000395311.1_Missense_Mutation_p.Q1293K|KTN1_ENST00000554507.1_Missense_Mutation_p.Q582K|KTN1_ENST00000416613.1_Missense_Mutation_p.Q1344K|KTN1_ENST00000555573.1_Missense_Mutation_p.Q321K|KTN1_ENST00000395308.1_Missense_Mutation_p.Q1293K	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1344					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.Q1344K(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GGCGGTAAACCAACAGCTCAC	0.408			T	RET	papillary thryoid																																	uc001xcb.2				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(4030-4032)CAA>AAA		kinectin 1 isoform a							136.0	136.0	136.0					14																	56146364		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56146364C>A		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.4030C>A	14.37:g.56146364C>A	ENSP00000378725:p.Gln1344Lys					KTN1_uc001xce.2_Missense_Mutation_p.Q1287K|KTN1_uc001xcc.2_Missense_Mutation_p.Q1344K|KTN1_uc001xcd.2_Missense_Mutation_p.Q1293K|KTN1_uc010trb.1_Missense_Mutation_p.Q1316K|KTN1_uc001xcf.1_Missense_Mutation_p.Q1293K|KTN1_uc010aoq.2_Missense_Mutation_p.Q582K|KTN1_uc010trc.1_Missense_Mutation_p.Q321K|KTN1_uc001xcg.2_Missense_Mutation_p.Q277K	p.Q1344K	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			44	4332	+			1344			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.4030C>A	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.234023	0.39498	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000555573	T;T;T;T;T;T;T;T;T	0.77489	1.49;1.52;1.52;1.52;1.49;1.49;1.52;-1.1;-1.1	6.17	5.27	0.74061	.	0.118903	0.38111	N	0.001814	T	0.68339	0.2990	L	0.29908	0.895	0.34646	D	0.721195	B;B;B;B;B;B	0.28419	0.112;0.037;0.211;0.037;0.063;0.037	B;B;B;B;B;B	0.24006	0.029;0.02;0.05;0.02;0.02;0.02	T	0.74025	-0.3797	10	0.49607	T	0.09	-6.5721	15.6969	0.77506	0.1382:0.8618:0.0:0.0	.	321;1316;582;1287;1293;1344	B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;.;KTN1_HUMAN	K	1293;1344;1287;1344;1293;1293;1344;582;321	ENSP00000394992:Q1293K;ENSP00000378720:Q1344K;ENSP00000391964:Q1287K;ENSP00000378725:Q1344K;ENSP00000378719:Q1293K;ENSP00000378722:Q1293K;ENSP00000388807:Q1344K;ENSP00000452073:Q582K;ENSP00000451698:Q321K	ENSP00000334083:Q139K	Q	+	1	0	KTN1	55216117	1.000000	0.71417	0.999000	0.59377	0.527000	0.34593	2.223000	0.42936	1.584000	0.49913	0.655000	0.94253	CAA		PASS	0.408	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			42	82	42	82	---	---	---	---
ACTR10	55860	broad.mit.edu	37	14	58701178	58701178	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:58701178G>A	ENST00000254286.4	+	13	1243	c.1163G>A	c.(1162-1164)tGt>tAt	p.C388Y		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	388					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)		p.C388Y(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CCTGATTGGTGTTCTCTCAAT	0.408																																						uc001xdf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1162-1164)TGT>TAT		uncharacterized hypothalamus protein HARP11							112.0	108.0	109.0					14																	58701178		2203	4300	6503	SO:0001583	missense	55860					cytoplasm		g.chr14:58701178G>A	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	ENST00000254286.4:c.1163G>A	14.37:g.58701178G>A	ENSP00000254286:p.Cys388Tyr					C14orf37_uc010tro.1_Intron|ACTR10_uc001xdg.2_Missense_Mutation_p.C190Y|ACTR10_uc001xdh.2_Missense_Mutation_p.C190Y|ACTR10_uc010trp.1_RNA|ACTR10_uc010apc.2_Missense_Mutation_p.C178Y	p.C388Y	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN			13	1266	+			388					Q9H9Y5|Q9NWY2	Missense_Mutation	SNP	ENST00000254286.4	37	c.1163G>A	CCDS32090.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830930	0.91036	.	.	ENSG00000131966	ENST00000254286	D	0.95788	-3.81	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.97318	0.9123	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.989	D	0.97501	1.0060	10	0.87932	D	0	-14.7013	19.3545	0.94407	0.0:0.0:1.0:0.0	.	388;388	Q53H79;Q9NZ32	.;ARP10_HUMAN	Y	388	ENSP00000254286:C388Y	ENSP00000254286:C388Y	C	+	2	0	ACTR10	57770931	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.894000	0.99253	0.655000	0.94253	TGT		PASS	0.408	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1			32	133	32	133	---	---	---	---
SIX1	6495	broad.mit.edu	37	14	61113136	61113136	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:61113136G>A	ENST00000247182.6	-	2	992	c.720C>T	c.(718-720)caC>caT	p.H240H	SIX1_ENST00000554986.1_Silent_p.H67H	NM_005982.3	NP_005973.1	Q15475	SIX1_HUMAN	SIX homeobox 1	240					aorta morphogenesis (GO:0035909)|apoptotic process (GO:0006915)|branching involved in ureteric bud morphogenesis (GO:0001658)|cochlea morphogenesis (GO:0090103)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial cell differentiation (GO:0030855)|facial nerve morphogenesis (GO:0021610)|generation of neurons (GO:0048699)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesonephric tubule formation (GO:0072172)|metanephric mesenchyme development (GO:0072075)|middle ear morphogenesis (GO:0042474)|myoblast migration (GO:0051451)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|organ induction (GO:0001759)|otic vesicle development (GO:0071599)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|protein localization to nucleus (GO:0034504)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of neuron differentiation (GO:0045664)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.H240H(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0201)		AGCTCCTGGCGTGGCCCATAT	0.597																																						uc001xfb.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(718-720)CAC>CAT		SIX homeobox 1							95.0	90.0	91.0					14																	61113136		2203	4300	6503	SO:0001819	synonymous_variant	6495				branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development	nucleolus|transcription factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr14:61113136G>A	X91868	CCDS9748.1	14q23.1	2011-06-20	2007-07-13		ENSG00000126778	ENSG00000126778		"""Homeoboxes / SINE class"""	10887	protein-coding gene	gene with protein product		601205	"""sine oculis homeobox (Drosophila) homolog 1"", ""sine oculis homeobox homolog 1 (Drosophila)"", ""deafness, autosomal dominant 23"""	DFNA23		8617500, 15141091	Standard	NM_005982		Approved		uc001xfb.4	Q15475	OTTHUMG00000140334	ENST00000247182.6:c.720C>T	14.37:g.61113136G>A							p.H240H	NM_005982	NP_005973	Q15475	SIX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0201)	2	968	-			240					Q53Y16|Q96H64	Silent	SNP	ENST00000247182.6	37	c.720C>T	CCDS9748.1																																																																																				PASS	0.597	SIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276951.3			38	81	38	81	---	---	---	---
GPHB5	122876	broad.mit.edu	37	14	63779814	63779814	+	RNA	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:63779814G>C	ENST00000539258.1	-	0	276							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)		p.P73R(2)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		AATATAGGGGGGTTCCAGAAT	0.438																																						uc010apu.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(220-222)CCC>GCC		glycoprotein beta 5							68.0	71.0	70.0					14																	63779814		1873	4120	5993			122876					extracellular region	hormone activity	g.chr14:63779814G>C	AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63779814G>C						GPHB5_uc001xgc.2_Missense_Mutation_p.P64A	p.P74A	NM_145171	NP_660154	Q86YW7	GPHB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)	3	220	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6NTD0|Q8NFW2	Missense_Mutation	SNP	ENST00000539258.1	37	c.220C>G																																																																																					PASS	0.438	GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171		5	7	5	7	---	---	---	---
HSPA2	3306	broad.mit.edu	37	14	65008114	65008114	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:65008114G>T	ENST00000394709.1	+	2	623	c.547G>T	c.(547-549)Gcc>Tcc	p.A183S	RP11-973N13.4_ENST00000554918.1_RNA|HSPA2_ENST00000554883.1_3'UTR|HSPA2_ENST00000247207.6_Missense_Mutation_p.A183S			P54652	HSP72_HUMAN	heat shock 70kDa protein 2	183					male meiosis (GO:0007140)|male meiosis I (GO:0007141)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G2/M transition of mitotic cell cycle (GO:0031662)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|spermatid development (GO:0007286)|synaptonemal complex disassembly (GO:0070194)	blood microparticle (GO:0072562)|CatSper complex (GO:0036128)|cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|glycolipid binding (GO:0051861)|unfolded protein binding (GO:0051082)	p.A183S(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		GGCGGCCATCGCCTACGGCCT	0.632																																					Pancreas(136;1211 1835 24894 31984 38227)	uc001xhj.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(547-549)GCC>TCC		heat shock 70kDa protein 2							59.0	66.0	64.0					14																	65008114		2203	4300	6503	SO:0001583	missense	3306				response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding	g.chr14:65008114G>T	L26336, BC001752	CCDS9766.1	14q23	2012-10-02	2002-08-29		ENSG00000126803	ENSG00000126803		"""Heat shock proteins / HSP70"""	5235	protein-coding gene	gene with protein product		140560	"""heat shock 70kD protein 2"""				Standard	NM_021979		Approved		uc001xhk.4	P54652	OTTHUMG00000141311	ENST00000394709.1:c.547G>T	14.37:g.65008114G>T	ENSP00000378199:p.Ala183Ser					HSPA2_uc001xhk.3_Missense_Mutation_p.A183S	p.A183S	NM_021979	NP_068814	P54652	HSP72_HUMAN		all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)	2	623	+			183					Q15508|Q53XM3|Q9UE78	Missense_Mutation	SNP	ENST00000394709.1	37	c.547G>T	CCDS9766.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037081	0.75617	.	.	ENSG00000126803	ENST00000394709;ENST00000247207	T;T	0.01647	4.71;4.71	5.04	5.04	0.67666	.	0.000000	0.52532	U	0.000073	T	0.18173	0.0436	H	0.95816	3.725	0.58432	D	0.999991	D	0.71674	0.998	D	0.76071	0.987	T	0.18147	-1.0346	10	0.87932	D	0	-13.2814	18.3723	0.90411	0.0:0.0:1.0:0.0	.	183	P54652	HSP72_HUMAN	S	183	ENSP00000378199:A183S;ENSP00000247207:A183S	ENSP00000247207:A183S	A	+	1	0	HSPA2	64077867	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	9.869000	0.99810	2.319000	0.78375	0.563000	0.77884	GCC		PASS	0.632	HSPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280651.1			27	52	27	52	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65246617	65246617	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:65246617C>T	ENST00000389721.5	-	20	4331	c.4299G>A	c.(4297-4299)gaG>gaA	p.E1433E	SPTB_ENST00000389722.3_Silent_p.E1433E|SPTB_ENST00000556626.1_Silent_p.E1433E|SPTB_ENST00000542895.1_Silent_p.E1433E|SPTB_ENST00000389720.3_Silent_p.E1433E	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1433					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.E1433E(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCCCCAGCTCCTCTTTTCGCA	0.587																																						uc001xht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(4297-4299)GAG>GAA		spectrin beta isoform b							118.0	115.0	116.0					14																	65246617		2203	4300	6503	SO:0001819	synonymous_variant	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65246617C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4299G>A	14.37:g.65246617C>T						SPTB_uc001xhr.2_Silent_p.E1433E|SPTB_uc001xhs.2_Silent_p.E1433E|SPTB_uc001xhu.2_Silent_p.E1433E|SPTB_uc010aqi.2_Silent_p.E94E	p.E1433E	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	20	4353	-		all_lung(585;4.15e-09)	1433			Spectrin 11.		Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	c.4299G>A	CCDS32100.1																																																																																				PASS	0.587	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			44	148	44	148	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65253222	65253222	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:65253222C>T	ENST00000389721.5	-	15	3493	c.3461G>A	c.(3460-3462)gGc>gAc	p.G1154D	SPTB_ENST00000389722.3_Missense_Mutation_p.G1154D|SPTB_ENST00000556626.1_Missense_Mutation_p.G1154D|SPTB_ENST00000542895.1_Missense_Mutation_p.G1154D|SPTB_ENST00000389720.3_Missense_Mutation_p.G1154D	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1154					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.G1154D(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCACATCCTGCCCAGGGCATT	0.607																																						uc001xht.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(3460-3462)GGC>GAC		spectrin beta isoform b							48.0	49.0	49.0					14																	65253222		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65253222C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.3461G>A	14.37:g.65253222C>T	ENSP00000374371:p.Gly1154Asp					SPTB_uc001xhr.2_Missense_Mutation_p.G1154D|SPTB_uc001xhs.2_Missense_Mutation_p.G1154D|SPTB_uc001xhu.2_Missense_Mutation_p.G1154D	p.G1154D	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	15	3515	-		all_lung(585;4.15e-09)	1154			Spectrin 9.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.3461G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	5.114	0.206728	0.09704	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78	4.78	-6.05	0.02172	.	0.986918	0.08304	N	0.966407	T	0.34978	0.0916	L	0.38175	1.15	0.09310	N	0.999998	B;B	0.25390	0.125;0.011	B;B	0.24269	0.052;0.013	T	0.17715	-1.0360	10	0.33141	T	0.24	.	13.7058	0.62639	0.0:0.3643:0.0:0.6357	.	1154;1158	P11277;Q59FP5	SPTB1_HUMAN;.	D	1158;1154;1154;1154;1154;1154	ENSP00000374372:G1154D;ENSP00000451752:G1154D;ENSP00000374371:G1154D;ENSP00000443882:G1154D;ENSP00000374370:G1154D	ENSP00000374370:G1154D	G	-	2	0	SPTB	64322975	0.000000	0.05858	0.004000	0.12327	0.272000	0.26649	-2.213000	0.01224	-1.699000	0.01416	-1.079000	0.02226	GGC		PASS	0.607	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			6	25	6	25	---	---	---	---
RDH12	145226	broad.mit.edu	37	14	68191292	68191292	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:68191292A>C	ENST00000551171.1	+	4	495	c.171A>C	c.(169-171)agA>agC	p.R57S	RDH12_ENST00000267502.3_Missense_Mutation_p.R57S|RDH12_ENST00000539142.1_Missense_Mutation_p.R57S	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	57					photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	intracellular (GO:0005622)|photoreceptor inner segment membrane (GO:0060342)	retinol dehydrogenase activity (GO:0004745)	p.R57S(1)		large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	AGACGGCCAGAGAGCTCGCTA	0.547																																						uc001xjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(169-171)AGA>AGC		retinol dehydrogenase 12	Vitamin A(DB00162)						171.0	144.0	153.0					14																	68191292		2203	4300	6503	SO:0001583	missense	145226				photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity	g.chr14:68191292A>C	AK054835	CCDS9787.1	14q24.1	2013-02-14	2006-05-09		ENSG00000139988	ENSG00000139988	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	19977	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 7C, member 2"""	608830	"""retinol dehydrogenase 12 (all-trans and 9-cis)"""			12226107, 19027726	Standard	NM_152443		Approved	FLJ30273, SDR7C2, LCA13, RP53	uc001xjz.4	Q96NR8		ENST00000551171.1:c.171A>C	14.37:g.68191292A>C	ENSP00000449079:p.Arg57Ser						p.R57S	NM_152443	NP_689656	Q96NR8	RDH12_HUMAN		all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	4	495	+			57					B2RDA2|Q8TAW6	Missense_Mutation	SNP	ENST00000551171.1	37	c.171A>C	CCDS9787.1	.	.	.	.	.	.	.	.	.	.	A	11.10	1.539429	0.27475	.	.	ENSG00000139988	ENST00000551171;ENST00000267502;ENST00000539142	D;D;D	0.89810	-2.57;-2.57;-2.57	5.32	0.285	0.15705	NAD(P)-binding domain (1);	0.125564	0.56097	D	0.000037	D	0.88440	0.6437	M	0.81497	2.545	0.43390	D	0.995504	P	0.42296	0.775	B	0.43990	0.438	D	0.83678	0.0170	10	0.30854	T	0.27	.	10.7709	0.46321	0.5875:0.0:0.4124:0.0	.	57	Q96NR8	RDH12_HUMAN	S	57	ENSP00000449079:R57S;ENSP00000267502:R57S;ENSP00000438715:R57S	ENSP00000267502:R57S	R	+	3	2	RDH12	67261045	1.000000	0.71417	0.995000	0.50966	0.833000	0.47200	0.870000	0.28010	-0.089000	0.12484	0.533000	0.62120	AGA		PASS	0.547	RDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406918.1			12	50	12	50	---	---	---	---
ZFYVE26	23503	broad.mit.edu	37	14	68241800	68241800	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:68241800G>C	ENST00000347230.4	-	27	5391	c.5253C>G	c.(5251-5253)caC>caG	p.H1751Q	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.H1751Q	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1751					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)	p.H1751Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGCAGCCTGGTGGACAATTT	0.458																																						uc001xka.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(2)	11						c.(5251-5253)CAC>CAG		zinc finger, FYVE domain containing 26							86.0	81.0	82.0					14																	68241800		2203	4300	6503	SO:0001583	missense	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68241800G>C	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5253C>G	14.37:g.68241800G>C	ENSP00000251119:p.His1751Gln					ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Missense_Mutation_p.H1751Q	p.H1751Q	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	27	5392	-			1751					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	c.5253C>G	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	G	10.22	1.288974	0.23478	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.26518	1.88;1.73	6.07	2.25	0.28309	.	0.709103	0.15395	N	0.264632	T	0.15003	0.0362	N	0.22421	0.69	0.29611	N	0.846934	B;B	0.25105	0.118;0.029	B;B	0.28709	0.093;0.026	T	0.26503	-1.0101	10	0.23891	T	0.37	-0.3428	5.6344	0.17528	0.6901:0.1404:0.1695:0.0	.	1751;1751	G3V2D8;Q68DK2	.;ZFY26_HUMAN	Q	1751;1730;1751	ENSP00000251119:H1751Q;ENSP00000450603:H1751Q	ENSP00000251119:H1751Q	H	-	3	2	ZFYVE26	67311553	0.990000	0.36364	0.291000	0.24904	0.966000	0.64601	1.195000	0.32186	0.126000	0.18424	-0.345000	0.07892	CAC		PASS	0.458	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		4	20	4	20	---	---	---	---
SLC8A3	6547	broad.mit.edu	37	14	70522529	70522529	+	Splice_Site	SNP	C	C	A	rs199831193		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:70522529C>A	ENST00000381269.2	-	4	2643	c.1890G>T	c.(1888-1890)gcG>gcT	p.A630A	SLC8A3_ENST00000534137.1_Splice_Site_p.A630A|SLC8A3_ENST00000533541.1_Intron|SLC8A3_ENST00000394330.2_Intron|SLC8A3_ENST00000357887.3_Splice_Site_p.A631A|SLC8A3_ENST00000356921.2_Intron|SLC8A3_ENST00000528359.1_Splice_Site_p.A631A|SLC8A3_ENST00000216568.7_Intron	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	630					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)	p.A630A(1)|p.A631A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATAACAGGAGCGCTGTTTGCA	0.418																																						uc001xly.2																			2	Substitution - coding silent(2)	p.A630E(1)	lung(2)	skin(3)|ovary(2)|breast(2)	7						c.(1888-1890)GCG>GCT		solute carrier family 8 (sodium/calcium							69.0	68.0	68.0					14																	70522529		2203	4300	6503	SO:0001630	splice_region_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70522529C>A	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.1889-1G>T	14.37:g.70522529C>A						SLC8A3_uc001xlu.2_Intron|SLC8A3_uc001xlv.2_Intron|SLC8A3_uc001xlw.2_Silent_p.A630A|SLC8A3_uc001xlx.2_Silent_p.A631A|SLC8A3_uc001xlz.2_Intron|SLC8A3_uc010ara.2_Intron|SLC8A3_uc001xma.2_Intron	p.A630A	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	4	2644	-			630			Cytoplasmic (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.1890G>T	CCDS35498.1																																																																																				PASS	0.418	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1		Silent	8	22	8	22	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71493521	71493521	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:71493521A>T	ENST00000304743.2	+	15	3834	c.3388A>T	c.(3388-3390)Att>Ttt	p.I1130F	PCNX_ENST00000439984.3_Missense_Mutation_p.I1019F|PCNX_ENST00000238570.5_Missense_Mutation_p.I1130F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1130						integral component of membrane (GO:0016021)		p.I1130F(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		AGTGTTTTTCATTGGTCTCCT	0.308																																						uc001xmo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(3388-3390)ATT>TTT		pecanex-like 1							129.0	123.0	125.0					14																	71493521		2202	4298	6500	SO:0001583	missense	22990					integral to membrane		g.chr14:71493521A>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3388A>T	14.37:g.71493521A>T	ENSP00000304192:p.Ile1130Phe					PCNX_uc010are.1_Missense_Mutation_p.I1019F|PCNX_uc010arf.1_5'UTR	p.I1130F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	15	3834	+			1130			Helical; (Potential).		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3388A>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566530	0.45694	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.61274	0.12;0.12;0.12	5.36	2.66	0.31614	.	0.181941	0.49305	D	0.000144	T	0.31040	0.0784	N	0.03154	-0.405	0.58432	D	0.999994	B;B	0.20780	0.048;0.009	B;B	0.17098	0.017;0.005	T	0.07046	-1.0793	10	0.33940	T	0.23	.	10.4142	0.44311	0.8435:0.0:0.1565:0.0	.	1019;1130	B2RTR6;Q96RV3	.;PCX1_HUMAN	F	1130;1130;1019	ENSP00000304192:I1130F;ENSP00000238570:I1130F;ENSP00000396617:I1019F	ENSP00000238570:I1130F	I	+	1	0	PCNX	70563274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.972000	0.40540	0.879000	0.35944	0.533000	0.62120	ATT		PASS	0.308	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		37	110	37	110	---	---	---	---
ZFYVE1	53349	broad.mit.edu	37	14	73491086	73491086	+	Missense_Mutation	SNP	C	C	A	rs200840006		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:73491086C>A	ENST00000556143.1	-	2	851	c.131G>T	c.(130-132)cGc>cTc	p.R44L	ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R44L|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R44L	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	44					negative regulation of phosphatase activity (GO:0010923)	autophagic vacuole (GO:0005776)|endoplasmic reticulum (GO:0005783)|ER-mitochondrion membrane contact site (GO:0044233)|Golgi stack (GO:0005795)|perinuclear region of cytoplasm (GO:0048471)|pre-autophagosomal structure (GO:0000407)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|zinc ion binding (GO:0008270)	p.R44L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		CTCCTCGCAGCGGAGACACTG	0.567																																						uc001xnm.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(130-132)CGC>CTC		zinc finger, FYVE domain containing 1 isoform 1							95.0	89.0	91.0					14																	73491086		2203	4300	6503	SO:0001583	missense	53349					endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	g.chr14:73491086C>A	AF251025	CCDS9811.1, CCDS41969.1, CCDS61498.1	14q24.2	2014-06-13	2003-02-28	2003-03-07		ENSG00000165861		"""Zinc fingers, FYVE domain containing"""	13180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 172"""	605471	"""zinc finger protein, subfamily 2A (FYVE domain containing), 1"""	ZNFN2A1		11024279, 11256955	Standard	NM_021260		Approved	DFCP1, KIAA1589, TAFF1, PPP1R172	uc001xnm.3	Q9HBF4		ENST00000556143.1:c.131G>T	14.37:g.73491086C>A	ENSP00000450742:p.Arg44Leu					ZFYVE1_uc010arj.2_Missense_Mutation_p.R44L	p.R44L	NM_021260	NP_067083	Q9HBF4	ZFYV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)	2	771	-		all_lung(585;1.33e-09)	44					J3KNL9|Q8WYX7|Q96K57|Q9BXP9|Q9HCI3	Missense_Mutation	SNP	ENST00000556143.1	37	c.131G>T	CCDS9811.1	.	.	.	.	.	.	.	.	.	.	C	13.42	2.230457	0.39399	.	.	ENSG00000165861	ENST00000553891;ENST00000318876;ENST00000556143	T;T;T	0.64260	-0.09;-0.08;-0.08	5.66	4.75	0.60458	.	0.118728	0.64402	D	0.000013	T	0.47746	0.1462	L	0.27053	0.805	0.80722	D	1	P;P	0.41748	0.761;0.499	B;B	0.38655	0.278;0.106	T	0.52381	-0.8583	10	0.72032	D	0.01	-18.2863	9.8913	0.41292	0.0:0.7876:0.1403:0.0721	.	44;44	G3V5N8;Q9HBF4	.;ZFYV1_HUMAN	L	44	ENSP00000452442:R44L;ENSP00000326921:R44L;ENSP00000450742:R44L	ENSP00000326921:R44L	R	-	2	0	ZFYVE1	72560839	1.000000	0.71417	0.997000	0.53966	0.029000	0.11900	3.812000	0.55628	1.355000	0.45865	0.585000	0.79938	CGC		PASS	0.567	ZFYVE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413172.1	NM_021260		36	83	36	83	---	---	---	---
UBR7	55148	broad.mit.edu	37	14	93684957	93684957	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:93684957G>T	ENST00000013070.6	+	7	922	c.686G>T	c.(685-687)gGa>gTa	p.G229V	UBR7_ENST00000416753.1_Missense_Mutation_p.G153V	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	229							ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G229V(1)		breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						CCTGAAAATGGAGAGCATCAA	0.443																																						uc001ybm.3																			1	Substitution - Missense(1)		lung(1)		0						c.(685-687)GGA>GTA		ubiquitin protein ligase E3 component n-recognin							116.0	102.0	107.0					14																	93684957		2203	4300	6503	SO:0001583	missense	55148						ubiquitin-protein ligase activity|zinc ion binding	g.chr14:93684957G>T	AK001345	CCDS9909.1	14q32.12	2008-06-23	2008-06-23	2008-06-23		ENSG00000012963		"""Ubiquitin protein ligase E3 component n-recognins"""	20344	protein-coding gene	gene with protein product		613816	"""chromosome 14 open reading frame 130"""	C14orf130		18162545	Standard	NM_175748		Approved		uc001ybm.4	Q8N806		ENST00000013070.6:c.686G>T	14.37:g.93684957G>T	ENSP00000013070:p.Gly229Val					UBR7_uc001ybn.3_Missense_Mutation_p.G153V|UBR7_uc010auq.2_Missense_Mutation_p.G78V	p.G229V	NM_175748	NP_786924	Q8N806	UBR7_HUMAN			7	922	+			229					Q86U21|Q86UA9|Q96BY0|Q9NVV6	Missense_Mutation	SNP	ENST00000013070.6	37	c.686G>T	CCDS9909.1	.	.	.	.	.	.	.	.	.	.	G	13.87	2.366644	0.41902	.	.	ENSG00000012963	ENST00000013070;ENST00000535646;ENST00000416753;ENST00000556871	T;T	0.77098	-1.06;-1.07	6.07	5.17	0.71159	.	0.470447	0.24967	N	0.034174	T	0.74935	0.3782	M	0.67397	2.05	0.54753	D	0.999986	B;B	0.13594	0.008;0.001	B;B	0.12156	0.007;0.003	T	0.68554	-0.5378	10	0.29301	T	0.29	-0.8407	13.9877	0.64345	0.0707:0.0:0.9293:0.0	.	153;229	E9PCJ7;Q8N806	.;UBR7_HUMAN	V	229;153;153;132	ENSP00000013070:G229V;ENSP00000391706:G153V	ENSP00000013070:G229V	G	+	2	0	UBR7	92754710	1.000000	0.71417	0.995000	0.50966	0.475000	0.33008	3.903000	0.56318	2.890000	0.99128	0.650000	0.86243	GGA		PASS	0.443	UBR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412693.1	NM_175748		29	58	29	58	---	---	---	---
SERPINA4	5267	broad.mit.edu	37	14	95030431	95030431	+	Silent	SNP	C	C	T	rs371042106		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:95030431C>T	ENST00000557004.1	+	2	1033	c.612C>T	c.(610-612)gaC>gaT	p.D204D	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.D204D|SERPINA4_ENST00000298841.5_Silent_p.D204D			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	204					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D204D(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TCAAGAAGGACGTCTTGATGG	0.453																																						uc001ydk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(610-612)GAC>GAT		serine (or cysteine) proteinase inhibitor, clade		C		1,4405	2.1+/-5.4	0,1,2202	155.0	146.0	149.0		612	0.2	0.0	14		149	0,8600		0,0,4300	no	coding-synonymous	SERPINA4	NM_006215.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		204/428	95030431	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5267				regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	g.chr14:95030431C>T	L19684	CCDS9927.1	14q32.13	2014-02-18	2005-08-18		ENSG00000100665	ENSG00000100665		"""Serine (or cysteine) peptidase inhibitors"""	8948	protein-coding gene	gene with protein product		147935	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4"""	PI4		8227002, 24172014	Standard	NM_001289032		Approved	KST, KAL, KLST, kallistatin	uc001ydk.3	P29622	OTTHUMG00000170859	ENST00000557004.1:c.612C>T	14.37:g.95030431C>T						SERPINA4_uc010avd.2_Silent_p.D241D|SERPINA4_uc001ydl.2_Silent_p.D204D	p.D204D	NM_006215	NP_006206	P29622	KAIN_HUMAN		COAD - Colon adenocarcinoma(157;0.211)	2	678	+			204					Q53XB5|Q86TR9|Q96BZ5	Silent	SNP	ENST00000557004.1	37	c.612C>T	CCDS9927.1																																																																																				PASS	0.453	SERPINA4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410718.1	NM_006215		59	150	59	150	---	---	---	---
DICER1	23405	broad.mit.edu	37	14	95571462	95571462	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:95571462G>T	ENST00000526495.1	-	22	3506	c.3215C>A	c.(3214-3216)gCc>gAc	p.A1072D	DICER1_ENST00000343455.3_Missense_Mutation_p.A1072D|DICER1_ENST00000393063.1_Missense_Mutation_p.A1072D|DICER1_ENST00000556045.1_5'UTR|DICER1_ENST00000541352.1_Missense_Mutation_p.A1072D|DICER1_ENST00000527414.1_Missense_Mutation_p.A1072D			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1072					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)	p.A1072D(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GGCAGTCTGGGCTCTTAGCTC	0.502			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													uc001ydw.2			yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	Mis F|N	"""dicer 1, ribonuclease type III """			"""E, M, O"""		pleuropulmonary blastoma			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)|lung(1)	5						c.(3214-3216)GCC>GAC		dicer1							119.0	122.0	121.0					14																	95571462		2203	4300	6503	SO:0001583	missense	23405	DICER_1_syndrome_|Familial_Multinodular_Goiter_	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr14:95571462G>T	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.3215C>A	14.37:g.95571462G>T	ENSP00000437256:p.Ala1072Asp					DICER1_uc010avh.1_5'UTR|DICER1_uc001ydv.2_Missense_Mutation_p.A1062D|DICER1_uc001ydx.2_Missense_Mutation_p.A1072D|DICER1_uc001ydy.1_5'Flank	p.A1072D	NM_030621	NP_085124	Q9UPY3	DICER_HUMAN		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)	21	3397	-		all_cancers(154;0.0621)|all_epithelial(191;0.223)	1072					A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Missense_Mutation	SNP	ENST00000526495.1	37	c.3215C>A	CCDS9931.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.467352	0.63625	.	.	ENSG00000100697	ENST00000343455;ENST00000526495;ENST00000393063;ENST00000527414;ENST00000541352	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.62	5.65	5.65	0.86999	.	0.051595	0.85682	D	0.000000	T	0.47838	0.1467	L	0.36672	1.1	0.80722	D	1	B	0.32717	0.381	B	0.29353	0.101	T	0.41270	-0.9518	10	0.12430	T	0.62	-20.7507	19.7233	0.96151	0.0:0.0:1.0:0.0	.	1072	Q9UPY3	DICER_HUMAN	D	1072	ENSP00000343745:A1072D;ENSP00000437256:A1072D;ENSP00000376783:A1072D;ENSP00000435681:A1072D;ENSP00000444719:A1072D	ENSP00000343745:A1072D	A	-	2	0	DICER1	94641215	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.827000	0.99397	2.658000	0.90341	0.462000	0.41574	GCC		PASS	0.502	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1			6	189	6	189	---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99642498	99642498	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:99642498T>C	ENST00000357195.3	-	4	684	c.675A>G	c.(673-675)acA>acG	p.T225T	BCL11B_ENST00000345514.2_Silent_p.T154T|BCL11B_ENST00000443726.2_Silent_p.T31T	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	225					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.T225T(1)		NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCTGCTTGCATGTTGTGCAAA	0.637			T	TLX3	T-ALL																																	uc001yga.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		1	Substitution - coding silent(1)		lung(1)	central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(673-675)ACA>ACG		B-cell CLL/lymphoma 11B isoform 1							38.0	35.0	36.0					14																	99642498		2202	4299	6501	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99642498T>C	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.675A>G	14.37:g.99642498T>C						BCL11B_uc001ygb.2_Silent_p.T154T	p.T225T	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	4	942	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	225			C2H2-type 1.		Q9H162	Silent	SNP	ENST00000357195.3	37	c.675A>G	CCDS9950.1																																																																																				PASS	0.637	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		12	28	12	28	---	---	---	---
WARS	7453	broad.mit.edu	37	14	100828124	100828124	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:100828124T>C	ENST00000355338.2	-	3	852	c.234A>G	c.(232-234)acA>acG	p.T78T	WARS_ENST00000554084.1_5'UTR|WARS_ENST00000358655.4_Silent_p.T37T|WARS_ENST00000556645.1_Silent_p.T37T|WARS_ENST00000392882.2_Silent_p.T78T|WARS_ENST00000344102.5_Silent_p.T37T|WARS_ENST00000557135.1_Silent_p.T78T	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	78					angiogenesis (GO:0001525)|gene expression (GO:0010467)|negative regulation of cell proliferation (GO:0008285)|regulation of angiogenesis (GO:0045765)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.T78T(1)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CTTCAGCTTCTGTGGCATCTG	0.502																																						uc001yhf.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(232-234)ACA>ACG		tryptophanyl-tRNA synthetase isoform a	L-Tryptophan(DB00150)						263.0	243.0	250.0					14																	100828124		2203	4300	6503	SO:0001819	synonymous_variant	7453				angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	g.chr14:100828124T>C	M61715	CCDS9960.1, CCDS9961.1	14q32.2	2014-03-19			ENSG00000140105	ENSG00000140105	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12729	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 1, cytoplasmic"""	191050		IFI53		1537332, 1763065	Standard	NM_004184		Approved	IFP53	uc001yhl.1	P23381	OTTHUMG00000171572	ENST00000355338.2:c.234A>G	14.37:g.100828124T>C						WARS_uc001yhg.1_Silent_p.T78T|WARS_uc001yhh.1_Silent_p.T78T|WARS_uc001yhi.1_Silent_p.T37T|WARS_uc001yhj.1_Silent_p.T37T|WARS_uc001yhk.1_Silent_p.T37T|WARS_uc001yhl.1_Silent_p.T78T|WARS_uc010twz.1_Silent_p.T78T	p.T78T	NM_173701	NP_776049	P23381	SYWC_HUMAN			2	318	-		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)	78					A6NGN1|A6NID3|P78535|Q502Y0|Q53XB6|Q9UDI5|Q9UDL3	Silent	SNP	ENST00000355338.2	37	c.234A>G	CCDS9960.1																																																																																				PASS	0.502	WARS-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414236.1	NM_004184		60	187	60	187	---	---	---	---
WDR20	91833	broad.mit.edu	37	14	102606455	102606455	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:102606455C>A	ENST00000342702.3	+	1	226	c.195C>A	c.(193-195)ctC>ctA	p.L65L	WDR20_ENST00000335263.5_Silent_p.L65L|WDR20_ENST00000424963.2_5'UTR|WDR20_ENST00000557186.1_3'UTR|WDR20_ENST00000556807.1_Silent_p.L65L|WDR20_ENST00000322340.5_Silent_p.L65L|WDR20_ENST00000556511.2_Silent_p.L65L|HSP90AA1_ENST00000334701.7_5'Flank|WDR20_ENST00000299135.6_Silent_p.L65L|WDR20_ENST00000558567.1_Silent_p.L65L|HSP90AA1_ENST00000558600.1_5'Flank|WDR20_ENST00000499851.2_5'UTR|WDR20_ENST00000454394.2_Silent_p.L65L	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	65								p.L65L(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						GCGACCGCCTCTGCTTCAATG	0.637																																						uc001ykz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(193-195)CTC>CTA		WD repeat domain 20 isoform 2							37.0	41.0	39.0					14																	102606455		2203	4300	6503	SO:0001819	synonymous_variant	91833							g.chr14:102606455C>A	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.195C>A	14.37:g.102606455C>A						WDR20_uc001yky.1_Translation_Start_Site|WDR20_uc001yla.2_Translation_Start_Site|WDR20_uc001ylb.2_Silent_p.L65L|WDR20_uc010txu.1_Silent_p.L65L|WDR20_uc001ylc.2_Silent_p.L65L|WDR20_uc001yld.2_Silent_p.L65L|WDR20_uc001yle.2_Silent_p.L65L|WDR20_uc001ylf.2_Silent_p.L65L|HSP90AA1_uc001ykv.3_5'Flank	p.L65L	NM_144574	NP_653175	Q8TBZ3	WDR20_HUMAN			1	244	+			65					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	ENST00000342702.3	37	c.195C>A	CCDS9969.1	.	.	.	.	.	.	.	.	.	.	C	10.54	1.378914	0.24944	.	.	ENSG00000140153	ENST00000556511	.	.	.	5.35	4.44	0.53790	.	0.262357	0.37530	N	0.002054	T	0.70281	0.3206	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69335	-0.5172	5	.	.	.	.	14.6935	0.69103	0.0:0.7242:0.2758:0.0	.	.	.	.	M	57	.	.	L	+	1	2	WDR20	101676208	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.229000	0.58625	1.205000	0.43262	0.557000	0.71058	CTG		PASS	0.637	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1	NM_181291		13	26	13	26	---	---	---	---
ADSSL1	122622	broad.mit.edu	37	14	105201411	105201411	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:105201411C>T	ENST00000330877.2	+	2	332	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	ADSSL1_ENST00000332972.5_Missense_Mutation_p.H126Y	NM_152328.3	NP_689541.1			adenylosuccinate synthase like 1									p.H126Y(1)		central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)		GTACGACTTCCACCTGCTGCC	0.612																																						uc001ypd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(247-249)CAC>TAC		adenylosuccinate synthase like 1 isoform 2	L-Aspartic Acid(DB00128)						74.0	59.0	64.0					14																	105201411		2203	4300	6503	SO:0001583	missense	122622				AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding	g.chr14:105201411C>T	AK095921	CCDS9990.1, CCDS9991.1	14q32.33	2010-08-05			ENSG00000185100	ENSG00000185100			20093	protein-coding gene	gene with protein product		612498					Standard	NM_199165		Approved	FLJ38602	uc001ype.3	Q8N142		ENST00000330877.2:c.247C>T	14.37:g.105201411C>T	ENSP00000331260:p.His83Tyr					INF2_uc010tyi.1_Intron|ADSSL1_uc001ype.2_Missense_Mutation_p.H126Y|ADSSL1_uc001ypf.2_RNA	p.H83Y	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	2	321	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	83						Missense_Mutation	SNP	ENST00000330877.2	37	c.247C>T	CCDS9990.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.562961	0.86335	.	.	ENSG00000185100	ENST00000330877;ENST00000332972	T;T	0.50548	0.74;0.74	3.72	3.72	0.42706	.	0.000000	0.85682	D	0.000000	T	0.79281	0.4419	H	0.97732	4.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.994;0.996	D	0.87809	0.2630	10	0.87932	D	0	-25.8804	15.6745	0.77303	0.0:1.0:0.0:0.0	.	126;83	Q8N142-2;Q8N142	.;PURA1_HUMAN	Y	83;126	ENSP00000331260:H83Y;ENSP00000333019:H126Y	ENSP00000331260:H83Y	H	+	1	0	ADSSL1	104272456	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.491000	0.81471	1.914000	0.55421	0.561000	0.74099	CAC		PASS	0.612	ADSSL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410529.1			10	18	10	18	---	---	---	---
IGHV3-15	28448	broad.mit.edu	37	14	106610580	106610580	+	RNA	SNP	C	C	A	rs552110714	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr14:106610580C>A	ENST00000390603.2	-	0	169									immunoglobulin heavy variable 3-15									p.L30F(1)									CAGGCTTTACCAAGCCTCCCC	0.567																																						uc010tyt.1																			1	Substitution - Missense(1)		lung(1)		0								Parts of antibodies, mostly variable regions.							75.0	71.0	72.0					14																	106610580		1835	4080	5915			8755							g.chr14:106610580C>A	X92216		14q32.33	2012-02-10			ENSG00000211943	ENSG00000211943		"""Immunoglobulins / IGH locus"""	5582	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152282		14.37:g.106610580C>A														1167		-									RNA	SNP	ENST00000390603.2	37	c.26251G>T																																																																																					PASS	0.567	IGHV3-15-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325670.1	NG_001019		39	81	39	81	---	---	---	---
OR4N4	283694	broad.mit.edu	37	15	22383085	22383085	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:22383085C>A	ENST00000328795.4	+	1	704	c.613C>A	c.(613-615)Ctg>Atg	p.L205M	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	205						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L205M(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CAACAGTGGCCTGATGACACT	0.517																																						uc001yuc.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(613-615)CTG>ATG		olfactory receptor, family 4, subfamily N,							132.0	107.0	115.0					15																	22383085		2194	4261	6455	SO:0001583	missense	283694				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22383085C>A	AI018459	CCDS32173.1	15q11.2	2012-08-09				ENSG00000183706		"""GPCR / Class A : Olfactory receptors"""	15375	protein-coding gene	gene with protein product							Standard	NM_001005241		Approved		uc010tzv.2	Q8N0Y3		ENST00000328795.4:c.613C>A	15.37:g.22383085C>A	ENSP00000332500:p.Leu205Met					LOC727924_uc001yub.1_Intron|OR4N4_uc010tzv.1_Missense_Mutation_p.L205M	p.L205M	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	7	1594	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	205			Helical; Name=5; (Potential).		Q6IEY3|Q6IF56	Missense_Mutation	SNP	ENST00000328795.4	37	c.613C>A	CCDS32173.1	.	.	.	.	.	.	.	.	.	.	.	10.38	1.333416	0.24167	.	.	ENSG00000183706	ENST00000328795	T	0.44083	0.93	3.37	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38492	N	0.001661	T	0.49983	0.1589	L	0.54965	1.715	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.29822	-0.9999	10	0.26408	T	0.33	-5.9912	5.1221	0.14865	0.0:0.6066:0.0:0.3934	.	205	Q8N0Y3	OR4N4_HUMAN	M	205	ENSP00000332500:L205M	ENSP00000332500:L205M	L	+	1	2	OR4N4	19884449	0.000000	0.05858	0.840000	0.33206	0.958000	0.62258	-1.289000	0.02780	0.596000	0.29794	0.404000	0.27445	CTG		PASS	0.517	OR4N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414922.1			12	199	12	199	---	---	---	---
NPAP1	23742	broad.mit.edu	37	15	24921812	24921812	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:24921812C>T	ENST00000329468.2	+	1	1272	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	266					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A266A(1)									CTGAGCCAGCCGTTGGCTGCT	0.637																																						uc001ywo.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(796-798)GCC>GCT		hypothetical protein LOC23742							33.0	36.0	35.0					15																	24921812		2199	4296	6495	SO:0001819	synonymous_variant	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24921812C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.798C>T	15.37:g.24921812C>T							p.A266A	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	1272	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	266						Silent	SNP	ENST00000329468.2	37	c.798C>T	CCDS10015.1																																																																																				PASS	0.637	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		17	45	17	45	---	---	---	---
FMN1	342184	broad.mit.edu	37	15	33180426	33180426	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:33180426A>C	ENST00000559047.1	-	13	3781	c.3782T>G	c.(3781-3783)gTc>gGc	p.V1261G	FMN1_ENST00000561249.1_Missense_Mutation_p.V1163G|FMN1_ENST00000334528.9_Missense_Mutation_p.V1038G			Q68DA7	FMN1_HUMAN	formin 1	1261	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V1261G(1)|p.V1038G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TTCAAACTTGACTTGGGAGGC	0.373																																						uc001zhf.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3112-3114)GTC>GGC		formin 1							72.0	70.0	71.0					15																	33180426		1811	4069	5880	SO:0001583	missense	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33180426A>C	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.3782T>G	15.37:g.33180426A>C	ENSP00000454047:p.Val1261Gly						p.V1038G	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	12	3113	-		all_lung(180;1.14e-07)	1261			FH2.		Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.3113T>G		.	.	.	.	.	.	.	.	.	.	A	22.2	4.261907	0.80358	.	.	ENSG00000248905	ENST00000334528	T	0.23348	1.91	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.52853	0.1760	M	0.78049	2.395	.	.	.	D	0.76494	0.999	D	0.78314	0.991	T	0.63625	-0.6595	9	0.87932	D	0	.	15.5561	0.76196	1.0:0.0:0.0:0.0	.	1038	Q68DA7-5	.	G	1038	ENSP00000333950:V1038G	ENSP00000333950:V1038G	V	-	2	0	FMN1	30967718	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.229000	0.95273	2.135000	0.66039	0.528000	0.53228	GTC		PASS	0.373	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1	NM_001103184		26	40	26	40	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34047380	34047380	+	Splice_Site	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:34047380A>T	ENST00000389232.4	+	58	8584	c.8514A>T	c.(8512-8514)ttA>ttT	p.L2838F	RYR3_ENST00000415757.3_Splice_Site_p.L2838F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2838					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.L2838F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCCCATTTAGGTAAGTATC	0.348																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(8512-8514)TTA>TTT		ryanodine receptor 3							57.0	55.0	56.0					15																	34047380		1842	4090	5932	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34047380A>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8515+1A>T	15.37:g.34047380A>T						RYR3_uc010bar.2_Missense_Mutation_p.L2838F	p.L2838F	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	58	8584	+		all_lung(180;7.18e-09)	2838			Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.8514A>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.961400	0.34565	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;D	0.97256	-0.86;-4.31	5.61	-0.715	0.11215	.	0.000000	0.64402	D	0.000005	D	0.95172	0.8435	L	0.28192	0.835	0.41786	D	0.989844	D;B	0.59357	0.985;0.188	P;B	0.58210	0.835;0.062	D	0.92046	0.5644	10	0.39692	T	0.17	.	11.288	0.49232	0.465:0.0:0.5349:0.0	.	2838;2838	Q15413-2;Q15413	.;RYR3_HUMAN	F	2838	ENSP00000373884:L2838F;ENSP00000399610:L2838F	ENSP00000354735:L2838F	L	+	3	2	RYR3	31834672	0.998000	0.40836	0.994000	0.49952	0.301000	0.27625	0.360000	0.20250	-0.069000	0.12931	-0.375000	0.07067	TTA		PASS	0.348	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation	17	22	17	22	---	---	---	---
TMCO5A	145942	broad.mit.edu	37	15	38235579	38235579	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:38235579C>G	ENST00000319669.4	+	9	709	c.607C>G	c.(607-609)Cat>Gat	p.H203D	TMCO5A_ENST00000540944.1_Missense_Mutation_p.H203D|TMCO5A_ENST00000558158.1_3'UTR|TMCO5A_ENST00000559502.1_Missense_Mutation_p.H203D	NM_152453.2	NP_689666.2	Q8N6Q1	TMC5A_HUMAN	transmembrane and coiled-coil domains 5A	203						integral component of membrane (GO:0016021)		p.H203D(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GGAAAAAGAGCATACCAGCCA	0.408																																						uc001zjw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(607-609)CAT>GAT		transmembrane and coiled-coil domains 5A							175.0	148.0	157.0					15																	38235579		2200	4297	6497	SO:0001583	missense	145942					integral to membrane		g.chr15:38235579C>G	BC029221	CCDS10046.1	15q14	2008-06-10	2008-06-10	2008-06-10	ENSG00000166069	ENSG00000166069			28558	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 5"""	TMCO5		12477932	Standard	NM_152453		Approved	MGC35118	uc001zjw.3	Q8N6Q1	OTTHUMG00000129787	ENST00000319669.4:c.607C>G	15.37:g.38235579C>G	ENSP00000327234:p.His203Asp					TMCO5A_uc001zjv.1_Missense_Mutation_p.H203D	p.H203D	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN			9	710	+			203					Q8NA63	Missense_Mutation	SNP	ENST00000319669.4	37	c.607C>G	CCDS10046.1	.	.	.	.	.	.	.	.	.	.	C	6.688	0.495624	0.12762	.	.	ENSG00000166069	ENST00000540944;ENST00000319669	.	.	.	4.95	-6.59	0.01830	.	3.779480	0.00424	N	0.000070	T	0.25419	0.0618	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.14227	-1.0480	9	0.13108	T	0.6	-4.0501	1.1015	0.01685	0.4282:0.2525:0.116:0.2033	.	203;203	Q8N6Q1;Q8N6Q1-2	TMC5A_HUMAN;.	D	203	.	ENSP00000327234:H203D	H	+	1	0	TMCO5A	36022871	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.463000	0.06696	-1.421000	0.02007	-1.710000	0.00715	CAT		PASS	0.408	TMCO5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252012.1	NM_152453		23	57	23	57	---	---	---	---
RPAP1	26015	broad.mit.edu	37	15	41821753	41821753	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:41821753C>A	ENST00000304330.4	-	9	1189	c.1073G>T	c.(1072-1074)cGa>cTa	p.R358L	RPAP1_ENST00000561603.1_Missense_Mutation_p.R358L|RPAP1_ENST00000568413.1_5'UTR	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	358						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)	p.R358L(1)		NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AAGACTGAATCGAGCCTGCAT	0.592																																						uc001zod.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1072-1074)CGA>CTA		RNA polymerase II associated protein 1							47.0	43.0	44.0					15																	41821753		2203	4300	6503	SO:0001583	missense	26015					nucleus	DNA binding|DNA-directed RNA polymerase activity	g.chr15:41821753C>A	BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1073G>T	15.37:g.41821753C>A	ENSP00000306123:p.Arg358Leu						p.R358L	NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)	9	1197	-		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	358					Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	ENST00000304330.4	37	c.1073G>T	CCDS10079.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197591	0.94997	.	.	ENSG00000103932	ENST00000304330	T	0.39592	1.07	4.97	4.97	0.65823	RNA polymerase II-associated protein 1, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81577	-0.0869	10	0.87932	D	0	-23.7584	17.1442	0.86762	0.0:1.0:0.0:0.0	.	358	Q9BWH6	RPAP1_HUMAN	L	358	ENSP00000306123:R358L	ENSP00000306123:R358L	R	-	2	0	RPAP1	39609045	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	6.887000	0.75616	2.578000	0.87016	0.655000	0.94253	CGA		PASS	0.592	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252694.2	NM_015540		16	33	16	33	---	---	---	---
PLA2G4D	283748	broad.mit.edu	37	15	42379558	42379558	+	Silent	SNP	G	G	A	rs140617872	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:42379558G>A	ENST00000290472.3	-	3	289	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	65	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)	p.T65T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GACTGGTGTCGGTGAGCGTCT	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		20448	0.0		0.002	False		,,,				2504	0.0					uc001zox.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(193-195)ACC>ACT		phospholipase A2, group IVD		G		3,4403	6.2+/-15.9	0,3,2200	248.0	215.0	226.0		195	2.2	0.5	15	dbSNP_134	226	15,8583	11.2+/-40.8	0,15,4284	no	coding-synonymous	PLA2G4D	NM_178034.3		0,18,6484	AA,AG,GG		0.1745,0.0681,0.1384		65/819	42379558	18,12986	2203	4299	6502	SO:0001819	synonymous_variant	283748				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	g.chr15:42379558G>A	AB090876	CCDS32203.1	15q14	2008-09-19				ENSG00000159337	3.1.1.4		30038	protein-coding gene	gene with protein product		612864				14709560	Standard	NM_178034		Approved	cPLA2delta	uc001zox.3	Q86XP0		ENST00000290472.3:c.195C>T	15.37:g.42379558G>A							p.T65T	NM_178034	NP_828848	Q86XP0	PA24D_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)	3	290	-		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)	65			C2.		Q8N176	Silent	SNP	ENST00000290472.3	37	c.195C>T	CCDS32203.1																																																																																				PASS	0.552	PLA2G4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419317.1	NM_178034		81	197	81	197	---	---	---	---
CEP152	22995	broad.mit.edu	37	15	49048574	49048574	+	Silent	SNP	C	C	G	rs548769785		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:49048574C>G	ENST00000380950.2	-	20	3058	c.2871G>C	c.(2869-2871)cgG>cgC	p.R957R	CEP152_ENST00000325747.5_Silent_p.R864R|CEP152_ENST00000399334.3_Silent_p.R957R	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	957					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)	p.R957R(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TCCATTCACTCCGAGCCTTAG	0.388																																						uc001zwy.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)	2						c.(2869-2871)CGG>CGC		centrosomal protein 152kDa							147.0	136.0	139.0					15																	49048574		1841	4096	5937	SO:0001819	synonymous_variant	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49048574C>G	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2871G>C	15.37:g.49048574C>G						CEP152_uc001zwz.2_Silent_p.R957R|CEP152_uc001zxa.1_Silent_p.R864R	p.R957R	NM_014985	NP_055800	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	20	2905	-		all_lung(180;0.0428)	957			Potential.		E7ER66|Q17RV1|Q6NTA0	Silent	SNP	ENST00000380950.2	37	c.2871G>C	CCDS58361.1																																																																																				PASS	0.388	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		34	103	34	103	---	---	---	---
CYP19A1	1588	broad.mit.edu	37	15	51514634	51514634	+	Missense_Mutation	SNP	A	A	T	rs34896264		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:51514634A>T	ENST00000396402.1	-	5	693	c.540T>A	c.(538-540)aaT>aaA	p.N180K	CYP19A1_ENST00000396404.4_Missense_Mutation_p.N180K|CYP19A1_ENST00000405913.3_Missense_Mutation_p.N180K|CYP19A1_ENST00000557858.1_Missense_Mutation_p.N180K|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.N180K|CYP19A1_ENST00000559878.1_Missense_Mutation_p.N180K	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	180					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)	p.N180K(1)		endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	AGCCCGATTCATTGGTCACCT	0.522																																					Melanoma(142;1016 1807 39614 48966 51721)	uc001zyz.3																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(538-540)AAT>AAA		cytochrome P450, family 19	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						166.0	124.0	138.0					15																	51514634		2196	4293	6489	SO:0001583	missense	1588				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51514634A>T	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.540T>A	15.37:g.51514634A>T	ENSP00000379683:p.Asn180Lys					CYP19A1_uc001zza.3_Missense_Mutation_p.N180K|CYP19A1_uc001zzb.2_Missense_Mutation_p.N180K|CYP19A1_uc001zzd.2_Missense_Mutation_p.N180K|CYP19A1_uc010bey.1_Missense_Mutation_p.N180K	p.N180K	NM_031226	NP_112503	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	6	791	-			180					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.540T>A	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	A	13.70	2.314750	0.40996	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807	T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.85	-8.65	0.00870	.	0.429385	0.27591	N	0.018695	T	0.54870	0.1885	L	0.56769	1.78	0.09310	N	1	P;B	0.52316	0.952;0.013	B;B	0.39904	0.313;0.034	T	0.64084	-0.6490	10	0.62326	D	0.03	-4.7719	16.6201	0.84928	0.2929:0.089:0.6181:0.0	.	180;180	Q8IYJ7;P11511	.;CP19A_HUMAN	K	180	ENSP00000379683:N180K;ENSP00000260433:N180K;ENSP00000379685:N180K;ENSP00000390614:N180K;ENSP00000383930:N180K;ENSP00000391139:N180K	ENSP00000260433:N180K	N	-	3	2	CYP19A1	49301926	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.621000	0.05559	-2.203000	0.00744	-0.290000	0.09829	AAT		PASS	0.522	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			23	63	23	63	---	---	---	---
DMXL2	23312	broad.mit.edu	37	15	51755631	51755631	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:51755631A>G	ENST00000251076.5	-	33	8155	c.7868T>C	c.(7867-7869)gTc>gCc	p.V2623A	RP11-707P17.2_ENST00000559977.1_RNA|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.V1987A|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.V2624A	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2623						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)	p.V2623A(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTCTTGAAGGACCTCTTGTTT	0.299																																						uc002abf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)	9						c.(7867-7869)GTC>GCC		Dmx-like 2							59.0	67.0	64.0					15																	51755631		2196	4288	6484	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51755631A>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.7868T>C	15.37:g.51755631A>G	ENSP00000251076:p.Val2623Ala					DMXL2_uc002abd.2_Missense_Mutation_p.V694A|DMXL2_uc010ufy.1_Missense_Mutation_p.V2624A|DMXL2_uc010bfa.2_Missense_Mutation_p.V1987A	p.V2623A	NM_015263	NP_056078	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	33	8093	-			2623					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.7868T>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779074	0.31502	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909;ENST00000436119	T;T;T	0.22743	2.08;2.08;1.94	5.26	5.26	0.73747	.	0.257186	0.39210	N	0.001439	T	0.14743	0.0356	L	0.28274	0.84	0.38960	D	0.958529	B;B;B;B	0.34015	0.338;0.435;0.229;0.069	B;B;B;B	0.30401	0.107;0.115;0.05;0.088	T	0.12708	-1.0537	10	0.16420	T	0.52	.	15.3444	0.74324	1.0:0.0:0.0:0.0	.	2624;1987;2623;2624	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	A	2623;2624;1987;168	ENSP00000251076:V2623A;ENSP00000441858:V2624A;ENSP00000400855:V1987A	ENSP00000251076:V2623A	V	-	2	0	DMXL2	49542923	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.628000	0.90979	2.205000	0.71048	0.455000	0.32223	GTC		PASS	0.299	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		62	150	62	150	---	---	---	---
MYO5A	4644	broad.mit.edu	37	15	52720734	52720734	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:52720734C>T	ENST00000399231.3	-	3	414	c.171G>A	c.(169-171)aaG>aaA	p.K57K	MYO5A_ENST00000553916.1_Silent_p.K57K|MYO5A_ENST00000399233.2_Silent_p.K57K|MYO5A_ENST00000356338.6_Silent_p.K57K|MYO5A_ENST00000358212.6_Silent_p.K57K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	57					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.K57K(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GAGGCAGCTCCTTGGTCTTTG	0.458																																						uc002aby.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(169-171)AAG>AAA		myosin VA isoform 1							168.0	153.0	158.0					15																	52720734		1976	4160	6136	SO:0001819	synonymous_variant	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52720734C>T		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.171G>A	15.37:g.52720734C>T						MYO5A_uc002abx.3_Silent_p.K57K|MYO5A_uc010uge.1_Intron	p.K57K	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	3	415	-			57			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Silent	SNP	ENST00000399231.3	37	c.171G>A	CCDS42037.1																																																																																				PASS	0.458	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	NM_000259		51	132	51	132	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62221838	62221838	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:62221838C>A	ENST00000261517.5	-	51	6221	c.6148G>T	c.(6148-6150)Gta>Tta	p.V2050L	VPS13C_ENST00000249837.3_Missense_Mutation_p.V2007L|VPS13C_ENST00000395896.4_Missense_Mutation_p.V2050L|VPS13C_ENST00000395898.3_Missense_Mutation_p.V2007L	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)									p.V2050L(2)		NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CTGGCACATACATACAGCTTG	0.368																																						uc002agz.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(6148-6150)GTA>TTA		vacuolar protein sorting 13C protein isoform 2A							188.0	158.0	168.0					15																	62221838		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62221838C>A	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6148G>T	15.37:g.62221838C>A	ENSP00000261517:p.Val2050Leu					VPS13C_uc002aha.2_Missense_Mutation_p.V2007L|VPS13C_uc002ahb.1_Missense_Mutation_p.V2050L|VPS13C_uc002ahc.1_Missense_Mutation_p.V2007L	p.V2050L	NM_020821	NP_065872	Q709C8	VP13C_HUMAN			51	6222	-			2050						Missense_Mutation	SNP	ENST00000261517.5	37	c.6148G>T	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	5.525	0.281727	0.10458	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.38887	1.11;1.11;1.28	5.26	3.37	0.38596	.	0.221552	0.38111	N	0.001818	T	0.25195	0.0612	L	0.33668	1.02	0.48087	D	0.999587	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.001;0.001	T	0.05500	-1.0881	10	0.07482	T	0.82	.	7.5999	0.28069	0.0:0.6725:0.1202:0.2074	.	2007;2050;2007;2050	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	L	2007;2050;2050;2050	ENSP00000249837:V2007L;ENSP00000261517:V2050L;ENSP00000379233:V2050L	ENSP00000249837:V2007L	V	-	1	0	VPS13C	60009130	0.605000	0.26941	0.991000	0.47740	0.992000	0.81027	0.570000	0.23653	1.211000	0.43351	0.655000	0.94253	GTA		PASS	0.368	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		30	77	30	77	---	---	---	---
SNX1	6642	broad.mit.edu	37	15	64422221	64422221	+	Nonsense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:64422221C>G	ENST00000559844.1	+	9	928	c.914C>G	c.(913-915)tCa>tGa	p.S305*	SNX1_ENST00000353874.4_Nonsense_Mutation_p.S305*|SNX1_ENST00000560829.1_Nonsense_Mutation_p.S87*|SNX1_ENST00000561026.1_Nonsense_Mutation_p.S240*|SNX1_ENST00000261889.5_Nonsense_Mutation_p.S305*			Q13596	SNX1_HUMAN	sorting nexin 1	305	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)	p.S305*(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ATGAATGAATCAGACATTGTG	0.483																																						uc002amv.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(913-915)TCA>TGA		sorting nexin 1 isoform a							121.0	93.0	103.0					15																	64422221		2203	4300	6503	SO:0001587	stop_gained	6642				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity	g.chr15:64422221C>G	BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.914C>G	15.37:g.64422221C>G	ENSP00000453785:p.Ser305*					SNX1_uc010bgv.2_Nonsense_Mutation_p.S19*|SNX1_uc010uio.1_Nonsense_Mutation_p.S305*|SNX1_uc002amw.2_Nonsense_Mutation_p.S305*|SNX1_uc002amx.2_Nonsense_Mutation_p.S240*|SNX1_uc002amy.2_Nonsense_Mutation_p.S234*|SNX1_uc010bgw.2_Nonsense_Mutation_p.S207*	p.S305*	NM_003099	NP_003090	Q13596	SNX1_HUMAN			9	950	+			305			BAR.		A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Nonsense_Mutation	SNP	ENST00000559844.1	37	c.914C>G	CCDS32266.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808221	0.90707	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	.	.	.	4.76	4.76	0.60689	.	0.141858	0.50627	D	0.000117	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-16.5558	16.5119	0.84288	0.0:1.0:0.0:0.0	.	.	.	.	X	305;305;240	.	ENSP00000261889:S240X	S	+	2	0	SNX1	62209274	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	4.690000	0.61731	2.461000	0.83175	0.561000	0.74099	TCA		PASS	0.483	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418559.1	NM_003099		3	93	3	93	---	---	---	---
IGDCC4	57722	broad.mit.edu	37	15	65678235	65678235	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:65678235G>T	ENST00000352385.2	-	18	3323	c.3114C>A	c.(3112-3114)gaC>gaA	p.D1038E	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1038						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D1038E(1)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CTTCAGCCCTGTCCTCCACGT	0.612											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002aou.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3112-3114)GAC>GAA		immunoglobulin superfamily, DCC subclass, member							38.0	42.0	41.0					15																	65678235		2201	4297	6498	SO:0001583	missense	57722					integral to membrane|plasma membrane		g.chr15:65678235G>T		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3114C>A	15.37:g.65678235G>T	ENSP00000319623:p.Asp1038Glu		OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086	IGDCC4_uc002aot.1_Missense_Mutation_p.D626E	p.D1038E	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN			18	3324	-			1038			Cytoplasmic (Potential).		Q9HCE4	Missense_Mutation	SNP	ENST00000352385.2	37	c.3114C>A	CCDS10206.1	.	.	.	.	.	.	.	.	.	.	G	8.544	0.873891	0.17395	.	.	ENSG00000103742	ENST00000352385;ENST00000356152	T	0.55930	0.49	4.71	3.75	0.43078	.	0.105461	0.42294	D	0.000728	T	0.26268	0.0641	N	0.05441	-0.05	0.24611	N	0.993721	B	0.06786	0.001	B	0.04013	0.001	T	0.10823	-1.0613	10	0.14252	T	0.57	-30.5888	7.6377	0.28276	0.0:0.3139:0.5397:0.1465	.	1038	Q8TDY8	IGDC4_HUMAN	E	1038;767	ENSP00000319623:D1038E	ENSP00000319623:D1038E	D	-	3	2	IGDCC4	63465288	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	1.269000	0.33074	2.449000	0.82847	0.462000	0.41574	GAC		PASS	0.612	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	NM_020962		16	80	16	80	---	---	---	---
LCTL	197021	broad.mit.edu	37	15	66844498	66844498	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:66844498C>T	ENST00000341509.5	-	10	1338	c.1207G>A	c.(1207-1209)Ggt>Agt	p.G403S	LCTL_ENST00000537670.1_Missense_Mutation_p.G230S	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	403					carbohydrate metabolic process (GO:0005975)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)	p.G403S(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGAGGATCACCGTATTGAGTC	0.363																																						uc002aqc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1207-1209)GGT>AGT		lactase-like precursor							124.0	115.0	118.0					15																	66844498		2201	4299	6500	SO:0001583	missense	197021				carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr15:66844498C>T	AY358729	CCDS10220.1, CCDS61678.1	15q21.3	2008-02-05			ENSG00000188501	ENSG00000188501			15583	protein-coding gene	gene with protein product	"""klotho gamma"", ""KL lactase phlorizin hydrolase"""					12084582	Standard	NM_207338		Approved	KLPH, FLJ33279, KLG	uc002aqc.3	Q6UWM7	OTTHUMG00000133207	ENST00000341509.5:c.1207G>A	15.37:g.66844498C>T	ENSP00000343490:p.Gly403Ser					LCTL_uc002aqd.3_Missense_Mutation_p.G230S|LCTL_uc010bhw.2_Missense_Mutation_p.G101S	p.G403S	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN			10	1339	-			403			Extracellular (Potential).		B3KQY0	Missense_Mutation	SNP	ENST00000341509.5	37	c.1207G>A	CCDS10220.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073767	0.76415	.	.	ENSG00000188501	ENST00000537670;ENST00000341509	T;T	0.55234	0.53;1.38	5.77	4.83	0.62350	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.046980	0.85682	D	0.000000	T	0.73369	0.3578	M	0.83012	2.62	0.58432	D	0.999998	P;D	0.89917	0.59;1.0	B;D	0.68765	0.224;0.96	T	0.77429	-0.2591	10	0.52906	T	0.07	-7.1502	15.3693	0.74551	0.1404:0.8596:0.0:0.0	.	230;403	B3KQY0;Q6UWM7	.;LCTL_HUMAN	S	230;403	ENSP00000445419:G230S;ENSP00000343490:G403S	ENSP00000343490:G403S	G	-	1	0	LCTL	64631552	1.000000	0.71417	0.380000	0.26093	0.670000	0.39368	7.117000	0.77129	1.513000	0.48852	0.655000	0.94253	GGT		PASS	0.363	LCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256921.2	NM_207338		35	101	35	101	---	---	---	---
SKOR1	390598	broad.mit.edu	37	15	68122622	68122622	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:68122622C>A	ENST00000380035.2	+	4	2559	c.2501C>A	c.(2500-2502)gCa>gAa	p.A834E	SKOR1_ENST00000389002.1_Missense_Mutation_p.A790E|SKOR1_ENST00000554240.1_Missense_Mutation_p.A795E|RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000341418.5_Missense_Mutation_p.A737E|SKOR1_ENST00000554054.1_Missense_Mutation_p.A806E			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	834					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)	p.A790E(1)|p.A834E(1)		endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCAAGTCCTGCAAATACAGAC	0.557																																						uc002aqy.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2368-2370)GCA>GAA		transcriptional corepressor Corl1							85.0	70.0	75.0					15																	68122622		2200	4298	6498	SO:0001583	missense	390598				negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	nucleotide binding|SMAD binding|transcription repressor activity	g.chr15:68122622C>A		CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.2501C>A	15.37:g.68122622C>A	ENSP00000369374:p.Ala834Glu						p.A790E	NM_001031807	NP_001026977	P84550	SKOR1_HUMAN			5	2369	+			834					A6NIP4|A6NJY0|Q2VWA5	Missense_Mutation	SNP	ENST00000380035.2	37	c.2369C>A		.	.	.	.	.	.	.	.	.	.	C	15.41	2.824125	0.50739	.	.	ENSG00000188779	ENST00000341418;ENST00000554240;ENST00000554054;ENST00000380035;ENST00000389002	D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63	5.65	4.63	0.57726	.	0.470656	0.22495	N	0.059304	T	0.81489	0.4833	N	0.19112	0.55	0.31680	N	0.643194	B	0.20261	0.043	B	0.29785	0.107	T	0.73978	-0.3812	10	0.28530	T	0.3	-2.1661	4.5062	0.11889	0.0:0.7203:0.0:0.2797	.	790	P84550-3	.	E	737;795;806;834;790	ENSP00000343200:A737E;ENSP00000451193:A795E;ENSP00000452361:A806E;ENSP00000369374:A834E;ENSP00000373654:A790E	ENSP00000343200:A737E	A	+	2	0	SKOR1	65909676	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	1.223000	0.32527	2.648000	0.89879	0.655000	0.94253	GCA		PASS	0.557	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000410832.1	NM_001031807		27	46	27	46	---	---	---	---
CYP1A1	1543	broad.mit.edu	37	15	75014673	75014673	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:75014673C>A	ENST00000379727.3	-	2	964	c.766G>T	c.(766-768)Gag>Tag	p.E256*	CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000395049.4_Nonsense_Mutation_p.E256*|CYP1A1_ENST00000395048.2_Nonsense_Mutation_p.E256*|CYP1A1_ENST00000567032.1_Nonsense_Mutation_p.E256*			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	256					9-cis-retinoic acid biosynthetic process (GO:0042904)|aging (GO:0007568)|amine metabolic process (GO:0009308)|arachidonic acid metabolic process (GO:0019369)|camera-type eye development (GO:0043010)|cell proliferation (GO:0008283)|cellular lipid metabolic process (GO:0044255)|cellular response to organic cyclic compound (GO:0071407)|coumarin metabolic process (GO:0009804)|dibenzo-p-dioxin catabolic process (GO:0019341)|digestive tract development (GO:0048565)|drug metabolic process (GO:0017144)|embryo development ending in birth or egg hatching (GO:0009792)|epoxygenase P450 pathway (GO:0019373)|flavonoid metabolic process (GO:0009812)|hepatocyte differentiation (GO:0070365)|hydrogen peroxide biosynthetic process (GO:0050665)|insecticide metabolic process (GO:0017143)|maternal process involved in parturition (GO:0060137)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound metabolic process (GO:0006778)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|response to antibiotic (GO:0046677)|response to arsenic-containing substance (GO:0046685)|response to drug (GO:0042493)|response to food (GO:0032094)|response to herbicide (GO:0009635)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to iron(III) ion (GO:0010041)|response to lipopolysaccharide (GO:0032496)|response to nematode (GO:0009624)|response to virus (GO:0009615)|response to vitamin A (GO:0033189)|response to wounding (GO:0009611)|small molecule metabolic process (GO:0044281)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|demethylase activity (GO:0032451)|flavonoid 3'-monooxygenase activity (GO:0016711)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on diphenols and related substances as donors (GO:0016679)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)|vitamin D 24-hydroxylase activity (GO:0070576)	p.E256*(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Acetaminophen(DB00316)|Albendazole(DB00518)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Arsenic trioxide(DB01169)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Caffeine(DB00201)|Carvedilol(DB01136)|Chloroquine(DB00608)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Clenbuterol(DB01407)|Clobetasol propionate(DB01013)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonidine(DB00575)|Clozapine(DB00363)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Dexamethasone(DB01234)|Dexmedetomidine(DB00633)|Diclofenac(DB00586)|Dicyclomine(DB00804)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Ethanol(DB00898)|Flunarizine(DB04841)|Fluorescein(DB00693)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Granisetron(DB00889)|Haloperidol(DB00502)|Isoprenaline(DB01064)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lorcaserin(DB04871)|Mebendazole(DB00643)|Melatonin(DB01065)|Menadione(DB00170)|Methoxsalen(DB00553)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitroprusside(DB00325)|Norfloxacin(DB01059)|Omeprazole(DB00338)|Ouabain(DB01092)|Oxaliplatin(DB00526)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Prazosin(DB00457)|Primaquine(DB01087)|Progesterone(DB00396)|Propofol(DB00818)|Propranolol(DB00571)|Pyridoxine(DB00165)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Riluzole(DB00740)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiabendazole(DB00730)|Ticlopidine(DB00208)|Toremifene(DB00539)|Tretinoin(DB00755)|Vitamin A(DB00162)|Warfarin(DB00682)	TAGAACTTCTCATTCAGGTCC	0.502									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia																													uc002ayp.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)	5						c.(766-768)GAG>TAG		cytochrome P450, family 1, subfamily A,	Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)						93.0	86.0	88.0					15																	75014673		2197	4296	6493	SO:0001587	stop_gained	1543	Endometrial_Cancer_Familial_Clustering_of|ACTH-independent_macronodular_adrenal_hyperplasia	Familial Cancer Database	;AIMAH, Cushing disease, Adrenal, Familial	cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity	g.chr15:75014673C>A	BC023019	CCDS10268.1	15q24.1	2007-12-14	2003-01-14		ENSG00000140465	ENSG00000140465	1.14.14.1	"""Cytochrome P450s"""	2595	protein-coding gene	gene with protein product		108330	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 1"""	CYP1		15128046	Standard	NM_000499		Approved	P450DX, P1-450, P450-C, CP11	uc002ayp.4	P04798	OTTHUMG00000142812	ENST00000379727.3:c.766G>T	15.37:g.75014673C>A	ENSP00000369050:p.Glu256*					CYP1A1_uc010bjv.2_RNA|CYP1A1_uc010bjw.2_RNA|CYP1A1_uc010bju.2_5'UTR|CYP1A1_uc010bjx.2_5'UTR|CYP1A1_uc002ayq.3_Nonsense_Mutation_p.E256*|CYP1A1_uc010bjy.2_Nonsense_Mutation_p.E256*|CYP1A1_uc010bjz.1_5'UTR	p.E256*	NM_000499	NP_000490	P04798	CP1A1_HUMAN			2	888	-			256					A4F3V9|A4F3W0|Q53G18	Nonsense_Mutation	SNP	ENST00000379727.3	37	c.766G>T	CCDS10268.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869416	0.32977	.	.	ENSG00000140465	ENST00000379727;ENST00000395048;ENST00000395049;ENST00000268062	.	.	.	5.0	-8.42	0.00957	.	1.574860	0.03055	N	0.155177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	11.3379	0.49516	0.0:0.5345:0.2836:0.182	.	.	.	.	X	256;256;256;228	.	ENSP00000268062:E228X	E	-	1	0	CYP1A1	72801726	0.000000	0.05858	0.003000	0.11579	0.148000	0.21650	-1.373000	0.02568	-1.766000	0.01302	-0.377000	0.06932	GAG		PASS	0.502	CYP1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286396.1	NM_000499		30	48	30	48	---	---	---	---
CEMIP	57214	broad.mit.edu	37	15	81212548	81212548	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:81212548C>A	ENST00000394685.3	+	15	2330	c.1911C>A	c.(1909-1911)acC>acA	p.T637T	KIAA1199_ENST00000220244.3_Silent_p.T637T|KIAA1199_ENST00000356249.5_Silent_p.T637T|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		637					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.T637T(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AGTCTGGAACCCTCCTCCCCT	0.557																																						uc002bfw.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(1909-1911)ACC>ACA		KIAA1199 precursor							163.0	109.0	127.0					15																	81212548		2203	4300	6503	SO:0001819	synonymous_variant	57214							g.chr15:81212548C>A																												ENST00000394685.3:c.1911C>A	15.37:g.81212548C>A						KIAA1199_uc010unn.1_Silent_p.T637T	p.T637T	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN			14	2171	+			637					Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Silent	SNP	ENST00000394685.3	37	c.1911C>A	CCDS10315.1																																																																																				PASS	0.557	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291389.1			28	93	28	93	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84592672	84592672	+	Silent	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:84592672A>T	ENST00000286744.5	+	17	2228	c.2004A>T	c.(2002-2004)atA>atT	p.I668I	ADAMTSL3_ENST00000567476.1_Silent_p.I668I	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	668						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.I668I(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)			AAGAAGCCATAGCAGTGTGCT	0.443																																						uc002bjz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2002-2004)ATA>ATT		ADAMTS-like 3 precursor							121.0	101.0	108.0					15																	84592672		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84592672A>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.2004A>T	15.37:g.84592672A>T						ADAMTSL3_uc010bmt.1_Silent_p.I668I|ADAMTSL3_uc010bmu.1_Silent_p.I668I	p.I668I	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		17	2228	+			668					A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.2004A>T	CCDS10326.1																																																																																				PASS	0.443	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		26	57	26	57	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346675	102346675	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:102346675T>A	ENST00000328882.4	+	1	774	c.753T>A	c.(751-753)ttT>ttA	p.F251L		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F251L(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTTTGGTCTTTGGGCCATTAA	0.373																																						uc010utr.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(751-753)TTT>TTA		olfactory receptor, family 4, subfamily F,							165.0	155.0	158.0					15																	102346675		2202	4300	6502	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346675T>A	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.753T>A	15.37:g.102346675T>A	ENSP00000327525:p.Phe251Leu						p.F251L	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	753	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		251			Helical; Name=6; (Potential).		B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.753T>A	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	18.56	3.650451	0.67472	.	.	ENSG00000184140	ENST00000328882	T	0.56611	0.45	4.9	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000043	T	0.67822	0.2934	M	0.78344	2.41	0.32969	D	0.522018	D	0.69078	0.997	D	0.67900	0.954	T	0.75709	-0.3223	9	.	.	.	.	8.8454	0.35168	0.0:0.0901:0.0:0.9099	.	251	Q8NGB9	OR4F6_HUMAN	L	251	ENSP00000327525:F251L	.	F	+	3	2	OR4F6	100164198	0.004000	0.15560	1.000000	0.80357	0.935000	0.57460	-0.069000	0.11542	0.998000	0.38996	0.482000	0.46254	TTT		PASS	0.373	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			84	333	84	333	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1262139	1262139	+	Splice_Site	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:1262139G>A	ENST00000348261.5	+	25	5007		c.e25+1		CACNA1H_ENST00000358590.4_Splice_Site|CACNA1H_ENST00000565831.1_Splice_Site	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit						aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)	p.?(2)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	AGGCGCAGGAGTAAGGCGCTC	0.731																																						uc002cks.2																			2	Unknown(2)		lung(2)	breast(2)	2						c.e25+1		calcium channel, voltage-dependent, T type,	Flunarizine(DB04841)|Mibefradil(DB01388)						38.0	40.0	39.0					16																	1262139		2074	4178	6252	SO:0001630	splice_region_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1262139G>A	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.4759+1G>A	16.37:g.1262139G>A						CACNA1H_uc002ckt.2_Splice_Site_p.K1587_splice|CACNA1H_uc002cku.2_Splice_Site_p.S293_splice|CACNA1H_uc010brj.2_Missense_Mutation_p.S293N|CACNA1H_uc002ckv.2_Splice_Site_p.K293_splice	p.S1587_splice	NM_021098	NP_066921	O95180	CAC1H_HUMAN			25	5007	+		Hepatocellular(780;0.00369)						B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Splice_Site	SNP	ENST00000348261.5	37	c.4759_splice	CCDS45375.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.517131	0.85495	.	.	ENSG00000196557	ENST00000348261;ENST00000358590	.	.	.	4.13	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9029	0.79397	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1H	1202140	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.239000	0.95389	2.285000	0.76669	0.467000	0.42956	.		PASS	0.731	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407	Intron	4	7	4	7	---	---	---	---
ABCA3	21	broad.mit.edu	37	16	2369699	2369699	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:2369699T>C	ENST00000301732.5	-	8	1456	c.756A>G	c.(754-756)gcA>gcG	p.A252A	ABCA3_ENST00000382381.3_Silent_p.A252A	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	252					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.A252A(1)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGAAGGGGTCTGCGATGAACG	0.627																																						uc002cpy.1																			1	Substitution - coding silent(1)		lung(1)	breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(754-756)GCA>GCG		ATP-binding cassette, sub-family A member 3							125.0	103.0	111.0					16																	2369699		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2369699T>C	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.756A>G	16.37:g.2369699T>C						ABCA3_uc010bsk.1_Silent_p.A252A|ABCA3_uc010bsl.1_Silent_p.A252A	p.A252A	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			8	1468	-		Ovarian(90;0.17)	252					B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.756A>G	CCDS10466.1																																																																																				PASS	0.627	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		9	52	9	52	---	---	---	---
ABAT	18	broad.mit.edu	37	16	8870208	8870208	+	Missense_Mutation	SNP	G	G	T	rs370489933		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:8870208G>T	ENST00000396600.2	+	14	2068	c.1130G>T	c.(1129-1131)cGg>cTg	p.R377L	ABAT_ENST00000268251.8_Missense_Mutation_p.R377L|ABAT_ENST00000567812.1_Missense_Mutation_p.R392L|ABAT_ENST00000425191.2_Missense_Mutation_p.R377L|ABAT_ENST00000569156.1_Missense_Mutation_p.R377L	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	377					behavioral response to cocaine (GO:0048148)|copulation (GO:0007620)|gamma-aminobutyric acid catabolic process (GO:0009450)|locomotory behavior (GO:0007626)|negative regulation of blood pressure (GO:0045776)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	4-aminobutyrate transaminase complex (GO:0032144)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	(S)-3-amino-2-methylpropionate transaminase activity (GO:0047298)|4-aminobutyrate transaminase activity (GO:0003867)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|succinate-semialdehyde dehydrogenase binding (GO:0032145)	p.R377L(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					L-Alanine(DB00160)|Phenelzine(DB00780)|Pyruvic acid(DB00119)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAGCCCTACCGGATCTTCAAC	0.572																																						uc002czc.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(1129-1131)CGG>CTG		4-aminobutyrate aminotransferase precursor	Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)						79.0	74.0	76.0					16																	8870208		2197	4300	6497	SO:0001583	missense	18				behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	g.chr16:8870208G>T	L32961	CCDS10534.1	16p13.2	2011-01-10			ENSG00000183044	ENSG00000183044	2.6.1.19		23	protein-coding gene	gene with protein product	"""4-aminobutyrate transaminase"""	137150				7721088	Standard	NM_020686		Approved	GABAT	uc002czc.4	P80404	OTTHUMG00000048201	ENST00000396600.2:c.1130G>T	16.37:g.8870208G>T	ENSP00000379845:p.Arg377Leu					ABAT_uc002czd.3_Missense_Mutation_p.R377L|ABAT_uc010buh.2_Missense_Mutation_p.R319L|ABAT_uc010bui.2_Missense_Mutation_p.R377L	p.R377L	NM_020686	NP_065737	P80404	GABT_HUMAN			14	1296	+			377					A8K386|Q16260|Q8N5W2|Q96BG2|Q99800	Missense_Mutation	SNP	ENST00000396600.2	37	c.1130G>T	CCDS10534.1	.	.	.	.	.	.	.	.	.	.	G	29.8	5.037104	0.93630	.	.	ENSG00000183044	ENST00000268251;ENST00000396600;ENST00000425191	D;D;D	0.86230	-2.09;-2.09;-2.09	5.32	5.32	0.75619	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.121280	0.56097	D	0.000031	D	0.95001	0.8382	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.95901	0.8915	10	0.87932	D	0	-1.8186	17.9735	0.89120	0.0:0.0:1.0:0.0	.	377	P80404	GABT_HUMAN	L	377	ENSP00000268251:R377L;ENSP00000379845:R377L;ENSP00000411916:R377L	ENSP00000268251:R377L	R	+	2	0	ABAT	8777709	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.550000	0.98110	2.485000	0.83878	0.655000	0.94253	CGG		PASS	0.572	ABAT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433620.2	NM_020686		25	54	25	54	---	---	---	---
GRIN2A	2903	broad.mit.edu	37	16	9862871	9862871	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:9862871T>A	ENST00000396573.2	-	13	2741	c.2432A>T	c.(2431-2433)cAg>cTg	p.Q811L	GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q811L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q811L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q811L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q654L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q811L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	811					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.Q811L(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AATGTCCAGCTGGCTGCTCAT	0.557																																						uc002czo.3																			1	Substitution - Missense(1)		lung(1)	skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(2431-2433)CAG>CTG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						131.0	105.0	114.0					16																	9862871		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9862871T>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2432A>T	16.37:g.9862871T>A	ENSP00000379818:p.Gln811Leu					GRIN2A_uc010uym.1_Missense_Mutation_p.Q811L|GRIN2A_uc010uyn.1_Missense_Mutation_p.Q654L|GRIN2A_uc002czr.3_Missense_Mutation_p.Q811L	p.Q811L	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			12	2980	-			811			Extracellular (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2432A>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	T	25.3	4.625528	0.87560	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	4.45	4.45	0.53987	Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.55226	0.1907	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.982	D;D;P	0.80764	0.986;0.994;0.87	T	0.53215	-0.8470	9	.	.	.	.	13.2061	0.59798	0.0:0.0:0.0:1.0	.	654;811;811	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	L	811;811;654;811;811	ENSP00000379818:Q811L;ENSP00000385872:Q811L;ENSP00000441572:Q654L;ENSP00000332549:Q811L;ENSP00000379820:Q811L	.	Q	-	2	0	GRIN2A	9770372	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.903000	0.87398	1.757000	0.51966	0.460000	0.39030	CAG		PASS	0.557	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			30	53	30	53	---	---	---	---
GP2	2813	broad.mit.edu	37	16	20331649	20331649	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:20331649C>G	ENST00000381362.4	-	6	878	c.802G>C	c.(802-804)Gag>Cag	p.E268Q	GP2_ENST00000381360.5_Missense_Mutation_p.E121Q|GP2_ENST00000341642.5_Missense_Mutation_p.E118Q|GP2_ENST00000302555.5_Missense_Mutation_p.E265Q|GP2_ENST00000573897.1_5'UTR	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	268	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.E265Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTCCTCTCCTCTGTCTGCAAG	0.562																																						uc002dgv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(802-804)GAG>CAG		zymogen granule membrane glycoprotein 2 isoform							129.0	108.0	115.0					16																	20331649		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331649C>G	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.802G>C	16.37:g.20331649C>G	ENSP00000370767:p.Glu268Gln					GP2_uc002dgw.2_Missense_Mutation_p.E265Q|GP2_uc002dgx.2_Missense_Mutation_p.E121Q|GP2_uc002dgy.2_Missense_Mutation_p.E118Q	p.E268Q	NM_001007240	NP_001007241	P55259	GP2_HUMAN			6	885	-			268			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.802G>C	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.446966	0.25987	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.82255	-1.59;-1.59;-1.59;-1.59	5.44	1.33	0.21861	Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.71617	0.3361	L	0.41824	1.3	0.09310	N	1	B;B;B;B	0.21452	0.001;0.056;0.001;0.001	B;B;B;B	0.25405	0.005;0.06;0.004;0.008	T	0.53697	-0.8402	9	0.15066	T	0.55	-3.3928	5.3389	0.15973	0.0:0.5031:0.3231:0.1738	.	118;246;265;268	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	Q	265;268;121;118;246	ENSP00000304044:E265Q;ENSP00000370767:E268Q;ENSP00000370765:E121Q;ENSP00000343861:E118Q	ENSP00000304044:E265Q	E	-	1	0	GP2	20239150	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.343000	0.07791	0.282000	0.22254	-0.127000	0.14921	GAG		PASS	0.562	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		14	116	14	116	---	---	---	---
ACSM5	54988	broad.mit.edu	37	16	20441012	20441012	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:20441012G>C	ENST00000331849.4	+	8	1161	c.1014G>C	c.(1012-1014)caG>caC	p.Q338H		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	338					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.Q338H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCAGTTTCAGAGCCTGAGGC	0.562																																						uc002dhe.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1012-1014)CAG>CAC		acyl-CoA synthetase medium-chain family member 5							105.0	103.0	103.0					16																	20441012		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20441012G>C		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1014G>C	16.37:g.20441012G>C	ENSP00000327916:p.Gln338His						p.Q338H	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			8	1161	+			338					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1014G>C	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687611	0.29962	.	.	ENSG00000183549	ENST00000331849	T	0.49139	0.79	3.88	-1.08	0.09936	AMP-dependent synthetase/ligase (1);	0.811324	0.10713	N	0.642691	T	0.36580	0.0972	L	0.40543	1.245	0.22737	N	0.998798	B	0.09022	0.002	B	0.10450	0.005	T	0.33727	-0.9857	10	0.54805	T	0.06	-0.4618	9.2934	0.37800	0.0829:0.4019:0.5152:0.0	.	338	Q6NUN0	ACSM5_HUMAN	H	338	ENSP00000327916:Q338H	ENSP00000327916:Q338H	Q	+	3	2	ACSM5	20348513	0.008000	0.16893	0.745000	0.31077	0.769000	0.43574	0.231000	0.17872	-0.241000	0.09681	0.551000	0.68910	CAG		PASS	0.562	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888		23	46	23	46	---	---	---	---
ACSM2A	123876	broad.mit.edu	37	16	20494478	20494478	+	Silent	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:20494478C>G	ENST00000573854.1	+	13	1722	c.1608C>G	c.(1606-1608)gcC>gcG	p.A536A	ACSM2A_ENST00000575690.1_Silent_p.A536A|ACSM2A_ENST00000396104.2_Silent_p.A536A|ACSM2A_ENST00000417235.2_Silent_p.A457A|ACSM2A_ENST00000219054.6_Silent_p.A536A|ACSM2A_ENST00000536134.1_Silent_p.A308A	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	536					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.A536A(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CAGTGACAGCCCCATACAAGT	0.483																																						uc010bwe.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|breast(1)	3						c.(1606-1608)GCC>GCG		acyl-CoA synthetase medium-chain family member							136.0	125.0	129.0					16																	20494478		2203	4297	6500	SO:0001819	synonymous_variant	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20494478C>G	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.1608C>G	16.37:g.20494478C>G						ACSM2A_uc002dhf.3_Silent_p.A536A|ACSM2A_uc002dhg.3_Silent_p.A536A|ACSM2A_uc010vay.1_Silent_p.A457A|ACSM2A_uc002dhh.3_Silent_p.A166A	p.A536A	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			14	1847	+			536					B3KTT9|O75202	Silent	SNP	ENST00000573854.1	37	c.1608C>G	CCDS32401.1																																																																																				PASS	0.483	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		8	125	8	125	---	---	---	---
ITGAM	3684	broad.mit.edu	37	16	31332938	31332938	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:31332938G>T	ENST00000287497.8	+	16	2067	c.1992G>T	c.(1990-1992)cgG>cgT	p.R664R	ITGAM_ENST00000544665.3_Silent_p.R665R			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	664					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)	p.R664R(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CACGGGATCGGCTAAGAGAAG	0.532																																						uc002ebq.2																			1	Substitution - coding silent(1)		lung(1)	kidney(1)	1						c.(1990-1992)CGG>CGT		integrin alpha M isoform 2 precursor							98.0	103.0	101.0					16																	31332938		2152	4268	6420	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31332938G>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1992G>T	16.37:g.31332938G>T						ITGAM_uc002ebr.2_Silent_p.R665R|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.2_Silent_p.R70R|ITGAM_uc002ebs.1_Silent_p.R70R	p.R664R	NM_000632	NP_000623	P11215	ITAM_HUMAN			16	2090	+			664			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1992G>T	CCDS45470.1																																																																																				PASS	0.532	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		35	75	35	75	---	---	---	---
ITGAD	3681	broad.mit.edu	37	16	31429860	31429860	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:31429860T>C	ENST00000389202.2	+	23	2804	c.2755T>C	c.(2755-2757)Tat>Cat	p.Y919H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	919					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.Y919H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCGGTGAAGTATGCAGTCTA	0.567																																						uc002ebv.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(2755-2757)TAT>CAT		integrin, alpha D precursor							136.0	125.0	128.0					16																	31429860		2197	4300	6497	SO:0001583	missense	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31429860T>C	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.2755T>C	16.37:g.31429860T>C	ENSP00000373854:p.Tyr919His					ITGAD_uc010cap.1_Missense_Mutation_p.Y920H	p.Y919H	NM_005353	NP_005344	Q13349	ITAD_HUMAN			23	2804	+			919			Extracellular (Potential).		Q15575|Q15576	Missense_Mutation	SNP	ENST00000389202.2	37	c.2755T>C	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.119291	0.37436	.	.	ENSG00000156886	ENST00000444228;ENST00000389202	T	0.50548	0.74	5.06	3.96	0.45880	Integrin alpha-2 (1);	.	.	.	.	T	0.68063	0.2960	M	0.84948	2.725	0.33112	D	0.540598	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75548	-0.3279	9	0.87932	D	0	.	7.5329	0.27693	0.0:0.0989:0.0:0.9011	.	935;919	Q59H14;Q13349	.;ITAD_HUMAN	H	935;919	ENSP00000373854:Y919H	ENSP00000373854:Y919H	Y	+	1	0	ITGAD	31337361	0.961000	0.32948	0.566000	0.28421	0.164000	0.22412	2.740000	0.47418	0.767000	0.33267	0.533000	0.62120	TAT		PASS	0.567	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		40	94	40	94	---	---	---	---
GPT2	84706	broad.mit.edu	37	16	46952628	46952628	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:46952628G>C	ENST00000340124.4	+	8	1108	c.996G>C	c.(994-996)gaG>gaC	p.E332D	GPT2_ENST00000440783.2_Missense_Mutation_p.E232D	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	332					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)	p.E332D(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GCAACGTGGAGCTCGCCTCCT	0.612																																						uc002eel.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(994-996)GAG>GAC		glutamic pyruvate transaminase 2 isoform 1	L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						137.0	117.0	124.0					16																	46952628		2203	4300	6503	SO:0001583	missense	84706				2-oxoglutarate metabolic process|cellular amino acid biosynthetic process|L-alanine metabolic process	mitochondrial matrix	L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr16:46952628G>C		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.996G>C	16.37:g.46952628G>C	ENSP00000345282:p.Glu332Asp					GPT2_uc002eem.2_Missense_Mutation_p.E232D	p.E332D	NM_133443	NP_597700	Q8TD30	ALAT2_HUMAN			8	1090	+		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)	332					Q8N9E2	Missense_Mutation	SNP	ENST00000340124.4	37	c.996G>C	CCDS10725.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186789	0.57909	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.21932	1.98;2.0	4.43	2.44	0.29823	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.54382	0.1855	H	0.95917	3.74	0.80722	D	1	D	0.71674	0.998	D	0.74348	0.983	T	0.61700	-0.7009	10	0.62326	D	0.03	.	9.2881	0.37769	0.2381:0.0:0.7619:0.0	.	332	Q8TD30	ALAT2_HUMAN	D	332;232	ENSP00000345282:E332D;ENSP00000413804:E232D	ENSP00000345282:E332D	E	+	3	2	GPT2	45510129	1.000000	0.71417	0.999000	0.59377	0.342000	0.28953	1.063000	0.30567	0.599000	0.29845	0.655000	0.94253	GAG		PASS	0.612	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255741.2			23	123	23	123	---	---	---	---
ZNF423	23090	broad.mit.edu	37	16	49671670	49671670	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:49671670T>C	ENST00000561648.1	-	4	1446	c.1393A>G	c.(1393-1395)Aag>Gag	p.K465E	ZNF423_ENST00000562520.1_Missense_Mutation_p.K405E|ZNF423_ENST00000535559.1_Missense_Mutation_p.K348E|ZNF423_ENST00000262383.2_Missense_Mutation_p.K465E|ZNF423_ENST00000567169.1_Missense_Mutation_p.K348E|ZNF423_ENST00000562871.1_Missense_Mutation_p.K405E|ZNF423_ENST00000563137.2_Missense_Mutation_p.K405E	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	465					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K465E(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCATGGTTCTTGTGCAGCTTG	0.567																																						uc002efs.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)|kidney(1)|pancreas(1)	4						c.(1393-1395)AAG>GAG		zinc finger protein 423							147.0	124.0	132.0					16																	49671670		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671670T>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1393A>G	16.37:g.49671670T>C	ENSP00000455426:p.Lys465Glu					ZNF423_uc010vgn.1_Missense_Mutation_p.K348E	p.K465E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN			5	1691	-		all_cancers(37;0.0155)	465					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1393A>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	T	0.654	-0.808515	0.02819	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08282	3.11;3.14	5.05	5.05	0.67936	.	0.100381	0.64402	D	0.000005	T	0.04952	0.0133	N	0.08118	0	0.38621	D	0.951137	B	0.09022	0.002	B	0.09377	0.004	T	0.42361	-0.9456	9	.	.	.	.	14.8251	0.70104	0.0:0.0:0.0:1.0	.	465	Q2M1K9	ZN423_HUMAN	E	465;348	ENSP00000262383:K465E;ENSP00000442321:K348E	.	K	-	1	0	ZNF423	48229171	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.884000	0.63135	1.902000	0.55061	0.459000	0.35465	AAG		PASS	0.567	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		37	65	37	65	---	---	---	---
NOD2	64127	broad.mit.edu	37	16	50759418	50759419	+	Nonsense_Mutation	DNP	CC	CC	AT			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:50759418_50759419CC>AT	ENST00000300589.2	+	10	3006_3007	c.2901_2902CC>AT	c.(2899-2904)ctCCag>ctATag	p.Q968*		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	968					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.Q968*(2)|p.L967L(2)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGAACCATCTCCAGGATGAAGG	0.411																																						uc002egm.1																			4	Substitution - Nonsense(2)|Substitution - coding silent(2)		lung(4)	ovary(3)|skin(1)	4						c.(2899-2901)CTC>CTA|c.(2902-2904)CAG>TAG		nucleotide-binding oligomerization domain																																				SO:0001587	stop_gained	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50759418C>A|g.chr16:50759419C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	Exception_encountered	16.37:g.50759418_50759419delinsAT	ENSP00000300589:p.Gln968*					NOD2_uc010vgq.1_Silent_p.L12L|NOD2_uc010vgq.1_Nonsense_Mutation_p.Q13*	p.L967L|p.Q968*	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			10	3006|3007	+		all_cancers(37;0.0156)	967|968			LRR 7.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent|Nonsense_Mutation	SNP	ENST00000300589.2	37	c.2901C>A|c.2902C>T	CCDS10746.1																																																																																				PASS	0.411	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		30|32	107|105	30	105	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175285	51175285	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:51175285G>T	ENST00000251020.4	-	2	881	c.848C>A	c.(847-849)tCc>tAc	p.S283Y	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000440970.1_Missense_Mutation_p.S186Y|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	283					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S283Y(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACTTAGCGTGGACAAGGGGTT	0.493																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(3)	8						c.(847-849)TCC>TAC		sal-like 1 isoform a							91.0	91.0	91.0					16																	51175285		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175285G>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.848C>A	16.37:g.51175285G>T	ENSP00000251020:p.Ser283Tyr					SALL1_uc010vgr.1_Missense_Mutation_p.S186Y|SALL1_uc010cbv.2_Intron	p.S283Y	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	879	-		all_cancers(37;0.0322)	283					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.848C>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520863	0.44866	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07800	3.16;3.18	4.75	4.75	0.60458	.	0.238346	0.41712	D	0.000838	T	0.07503	0.0189	N	0.14661	0.345	0.46044	D	0.998835	P	0.37955	0.612	B	0.41088	0.347	T	0.32587	-0.9901	10	0.66056	D	0.02	.	13.6573	0.62346	0.0:0.1549:0.8451:0.0	.	283	Q9NSC2	SALL1_HUMAN	Y	283;186;247	ENSP00000251020:S283Y;ENSP00000407914:S186Y	ENSP00000251020:S283Y	S	-	2	0	SALL1	49732786	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.663000	0.83820	2.445000	0.82738	0.491000	0.48974	TCC		PASS	0.493	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		57	94	57	94	---	---	---	---
CES5A	221223	broad.mit.edu	37	16	55880745	55880745	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:55880745G>A	ENST00000290567.9	-	12	1552	c.1431C>T	c.(1429-1431)gcC>gcT	p.A477A	CES5A_ENST00000319165.9_Silent_p.A427A|CES5A_ENST00000521992.1_Silent_p.A506A|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000518005.1_Silent_p.A371A|CES5A_ENST00000520435.1_Silent_p.A447A	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	477						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.A506A(1)|p.A427A(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CCTCCTCCGTGGCTCCTTCTG	0.537																																						uc002eip.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1429-1431)GCC>GCT		carboxylesterase 7 isoform 1							147.0	145.0	146.0					16																	55880745		2198	4300	6498	SO:0001819	synonymous_variant	221223					extracellular region	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55880745G>A	AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1431C>T	16.37:g.55880745G>A						CES7_uc002eio.2_Silent_p.A427A|CES7_uc002eiq.2_Silent_p.A238A|CES7_uc002eir.2_Silent_p.A371A	p.A477A	NM_001143685	NP_001137157	Q6NT32	EST5A_HUMAN		all cancers(182;0.229)|Epithelial(162;0.231)	12	1580	-			477					B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	ENST00000290567.9	37	c.1431C>T	CCDS45490.1																																																																																				PASS	0.537	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024		68	188	68	188	---	---	---	---
SLC12A3	6559	broad.mit.edu	37	16	56913034	56913034	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:56913034C>T	ENST00000563236.1	+	10	1255	c.1230C>T	c.(1228-1230)acC>acT	p.T410T	SLC12A3_ENST00000262502.5_Silent_p.T409T|SLC12A3_ENST00000438926.2_Silent_p.T410T|SLC12A3_ENST00000566786.1_Silent_p.T409T			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	410					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.T410T(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	ACACAGTGACCCCTGGCTGGG	0.617																																						uc010ccm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1228-1230)ACC>ACT		solute carrier family 12, member 3 isoform 3	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)						35.0	35.0	35.0					16																	56913034		2198	4300	6498	SO:0001819	synonymous_variant	6559				sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity	g.chr16:56913034C>T		CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.1230C>T	16.37:g.56913034C>T						SLC12A3_uc002ekd.3_Silent_p.T410T|SLC12A3_uc010ccn.2_Silent_p.T409T	p.T410T	NM_001126108	NP_001119580	P55017	S12A3_HUMAN			10	1259	+			410					A8MSJ2|C9JNN9	Silent	SNP	ENST00000563236.1	37	c.1230C>T	CCDS58464.1																																																																																				PASS	0.617	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			15	20	15	20	---	---	---	---
DDX19A	55308	broad.mit.edu	37	16	70404234	70404234	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:70404234C>T	ENST00000302243.7	+	10	1292	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	DDX19A_ENST00000417604.2_Missense_Mutation_p.R346C|DDX19A_ENST00000443119.2_Missense_Mutation_p.R287C	NM_018332.3	NP_060802.1	Q9NUU7	DD19A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A	377	C-terminal lobe. {ECO:0000250}.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA transport (GO:0051028)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|response to zinc ion (GO:0010043)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.R377C(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				GGTGATTGAGCGCTTCCGAGA	0.612																																						uc002eyv.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1129-1131)CGC>TGC		DDX19-like protein							142.0	120.0	128.0					16																	70404234		2198	4300	6498	SO:0001583	missense	55308				mRNA transport|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr16:70404234C>T	AF183422	CCDS10889.1	16q22.1	2012-02-23	2012-02-23	2005-07-13	ENSG00000168872	ENSG00000168872		"""DEAD-boxes"""	25628	protein-coding gene	gene with protein product			"""DEAD (Asp-Glu-Ala-As) box polypeptide 19-like"""	DDX19L		12477932	Standard	NM_018332		Approved	FLJ11126		Q9NUU7	OTTHUMG00000137579	ENST00000302243.7:c.1129C>T	16.37:g.70404234C>T	ENSP00000306117:p.Arg377Cys					DDX19B_uc010vly.1_Missense_Mutation_p.R378C|DDX19A_uc002eys.2_Missense_Mutation_p.R378C|DDX19A_uc010cfq.1_Missense_Mutation_p.R132C|DDX19A_uc010cfr.2_Missense_Mutation_p.R227C|DDX19A_uc010cfs.2_Missense_Mutation_p.R200C|DDX19A_uc010vlz.1_Missense_Mutation_p.R346C|DDX19A_uc010vma.1_Missense_Mutation_p.R287C	p.R377C	NM_018332	NP_060802	Q9NUU7	DD19A_HUMAN			10	1200	+		Ovarian(137;0.221)	377			Helicase C-terminal.		B2RPL0|B4DRZ7|Q53FM0	Missense_Mutation	SNP	ENST00000302243.7	37	c.1129C>T	CCDS10889.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270781	0.59540	.	.	ENSG00000168872	ENST00000302243;ENST00000302227;ENST00000417604;ENST00000443119	T;T;T	0.77229	-1.08;-1.08;-1.08	5.19	4.22	0.49857	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.84960	0.5588	L	0.59436	1.845	0.80722	D	1	P;B;P;D;P	0.89917	0.7;0.426;0.721;1.0;0.91	B;B;B;D;B	0.91635	0.08;0.302;0.14;0.999;0.219	D	0.86028	0.1511	10	0.87932	D	0	.	12.7992	0.57576	0.1651:0.8349:0.0:0.0	.	287;346;212;377;378	B4DRZ7;B4DS24;Q59FQ9;Q9NUU7;Q7Z4W5	.;.;.;DD19A_HUMAN;.	C	377;269;346;287	ENSP00000306117:R377C;ENSP00000410243:R346C;ENSP00000399208:R287C	ENSP00000306209:R269C	R	+	1	0	DDX19A	68961735	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.355000	0.59424	1.164000	0.42652	0.491000	0.48974	CGC		PASS	0.612	DDX19A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268967.2	NM_018332		21	66	21	66	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76486590	76486590	+	Missense_Mutation	SNP	C	C	G	rs151315964		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:76486590C>G	ENST00000476707.1	+	7	1405	c.1266C>G	c.(1264-1266)atC>atG	p.I422M	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.I418M|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.I370M|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.I346M			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	419	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.I394M(1)|p.I346M(1)|p.I418M(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CAGGGGGTATCCTCCTCTTTC	0.458													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16782	0.0		0.0	False		,,,				2504	0.0					uc002feu.1																			3	Substitution - Missense(3)		lung(3)	ovary(1)|pancreas(1)	2						c.(1255-1257)ATC>ATG		cell recognition protein CASPR4 isoform 1		C	MET/ILE,MET/ILE	1,4395	2.1+/-5.4	0,1,2197	73.0	73.0	73.0		1256,1038	4.5	1.0	16	dbSNP_134	73	0,8600		0,0,4300	no	missense,missense	CNTNAP4	NM_033401.3,NM_138994.3	10,10	0,1,6497	GG,GC,CC		0.0,0.0227,0.0077	benign,benign	419/1309,346/1236	76486590	1,12995	2198	4300	6498	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76486590C>G	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1266C>G	16.37:g.76486590C>G	ENSP00000417628:p.Ile422Met					CNTNAP4_uc002fev.1_Missense_Mutation_p.I283M|CNTNAP4_uc010chb.1_Missense_Mutation_p.I346M|CNTNAP4_uc002fex.1_Missense_Mutation_p.I422M|CNTNAP4_uc002few.2_Missense_Mutation_p.I394M	p.I419M	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			10	1642	+			419			Extracellular (Potential).|Laminin G-like 2.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.1257C>G		.	.	.	.	.	.	.	.	.	.	C	12.82	2.052037	0.36181	2.27E-4	0.0	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.79653	-1.29;-1.29;-1.29;-1.29	5.43	4.49	0.54785	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.224065	0.20571	N	0.089723	T	0.77705	0.4170	.	.	.	0.23459	N	0.997631	B;B;B;B	0.23540	0.046;0.087;0.043;0.051	B;B;B;B	0.35073	0.148;0.195;0.148;0.094	T	0.71810	-0.4480	9	0.72032	D	0.01	.	10.4394	0.44455	0.0:0.8526:0.0:0.1474	.	346;422;394;419	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	M	418;370;346;422	ENSP00000306893:I418M;ENSP00000439733:I370M;ENSP00000418741:I346M;ENSP00000417628:I422M	ENSP00000306893:I418M	I	+	3	3	CNTNAP4	75044091	0.002000	0.14202	0.992000	0.48379	0.829000	0.46940	-0.024000	0.12435	1.537000	0.49254	0.655000	0.94253	ATC		PASS	0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		35	82	35	82	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76587757	76587757	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:76587757G>T	ENST00000563764.1	+	2	110	c.110G>T	c.(109-111)aGa>aTa	p.R37I	CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.R1228I|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.R1180I|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.R1156I|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.R1232I														p.R1228I(1)|p.R1156I(1)									ATAGATGACAGAGAGCCCCTT	0.358																																						uc002feu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3685-3687)AGA>ATA		cell recognition protein CASPR4 isoform 1							83.0	77.0	79.0					16																	76587757		1844	4105	5949	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76587757G>T																												ENST00000563764.1:c.110G>T	16.37:g.76587757G>T	ENSP00000455258:p.Arg37Ile					CNTNAP4_uc002fev.1_Missense_Mutation_p.R1093I|CNTNAP4_uc010chb.1_Missense_Mutation_p.R1156I|CNTNAP4_uc002fex.1_Missense_Mutation_p.R1232I	p.R1229I	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			25	4071	+			1229			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000563764.1	37	c.3686G>T		.	.	.	.	.	.	.	.	.	.	G	14.10	2.435784	0.43224	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	D;D;D;D	0.88741	-2.29;-2.37;-2.37;-2.42	5.43	2.2	0.27929	.	0.502303	0.16785	N	0.199601	D	0.88422	0.6432	.	.	.	0.43835	D	0.996418	P;P;B	0.40398	0.7;0.716;0.405	P;B;B	0.45232	0.474;0.299;0.245	D	0.84052	0.0370	9	0.42905	T	0.14	.	12.9662	0.58485	0.1945:0.0:0.8055:0.0	.	1156;1232;1229	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	I	1228;1180;1156;1232	ENSP00000306893:R1228I;ENSP00000439733:R1180I;ENSP00000418741:R1156I;ENSP00000417628:R1232I	ENSP00000306893:R1228I	R	+	2	0	CNTNAP4	75145258	1.000000	0.71417	0.977000	0.42913	0.211000	0.24417	4.263000	0.58853	0.066000	0.16515	-1.884000	0.00543	AGA		PASS	0.358	RP11-58C22.1-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	protein_coding	OTTHUMT00000421971.1			9	27	9	27	---	---	---	---
KCNG4	93107	broad.mit.edu	37	16	84270616	84270616	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr16:84270616C>T	ENST00000308251.4	-	2	544	c.476G>A	c.(475-477)aGg>aAg	p.R159K	KCNG4_ENST00000568181.1_Missense_Mutation_p.R159K	NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	159					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.R159K(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CAGGCAGCACCTCTCCAGGTG	0.667																																						uc010voc.1																			1	Substitution - Missense(1)		lung(1)	breast(3)	3						c.(475-477)AGG>AAG		potassium voltage-gated channel, subfamily G,							36.0	34.0	35.0					16																	84270616		2200	4300	6500	SO:0001583	missense	93107					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:84270616C>T	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.476G>A	16.37:g.84270616C>T	ENSP00000312129:p.Arg159Lys					KCNG4_uc002fhu.1_Missense_Mutation_p.R159K	p.R159K	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN			2	597	-			159					Q96H24	Missense_Mutation	SNP	ENST00000308251.4	37	c.476G>A	CCDS10945.1	.	.	.	.	.	.	.	.	.	.	C	3.889	-0.024412	0.07634	.	.	ENSG00000168418	ENST00000308251	T	0.75367	-0.93	5.11	-10.2	0.00374	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.473598	0.20016	N	0.101008	T	0.49287	0.1548	L	0.47016	1.485	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.12837	0.008;0.001	T	0.55101	-0.8193	10	0.02654	T	1	.	5.4026	0.16305	0.0783:0.4697:0.2541:0.1979	.	159;159	Q8TDN1;Q8TDN1-2	KCNG4_HUMAN;.	K	159	ENSP00000312129:R159K	ENSP00000312129:R159K	R	-	2	0	KCNG4	82828117	0.000000	0.05858	0.000000	0.03702	0.957000	0.61999	-0.460000	0.06720	-2.957000	0.00291	-0.275000	0.10095	AGG		PASS	0.667	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269079.2	NM_172347		14	41	14	41	---	---	---	---
OR1A1	8383	broad.mit.edu	37	17	3119289	3119289	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:3119289C>A	ENST00000304094.1	+	1	375	c.375C>A	c.(373-375)gcC>gcA	p.A125A		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	125						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A125A(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GAGCTGTGGCCATCAGCCGCC	0.488																																						uc010vrc.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(373-375)GCC>GCA		olfactory receptor, family 1, subfamily A,							144.0	126.0	132.0					17																	3119289		2203	4300	6503	SO:0001819	synonymous_variant	8383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3119289C>A	AF087918	CCDS11022.1	17p13.3	2012-08-09			ENSG00000172146	ENSG00000172146		"""GPCR / Class A : Olfactory receptors"""	8179	protein-coding gene	gene with protein product						10673334	Standard	NM_014565		Approved	OR17-7	uc010vrc.2	Q9P1Q5	OTTHUMG00000090637	ENST00000304094.1:c.375C>A	17.37:g.3119289C>A							p.A125A	NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN			1	375	+			125			Cytoplasmic (Potential).		A5D914|Q6IFM1|Q6NTA9|Q96R87	Silent	SNP	ENST00000304094.1	37	c.375C>A	CCDS11022.1																																																																																				PASS	0.488	OR1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207292.1	NM_014565		47	61	47	61	---	---	---	---
ZBTB4	57659	broad.mit.edu	37	17	7365586	7365586	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:7365586G>T	ENST00000311403.4	-	4	3054	c.2715C>A	c.(2713-2715)gaC>gaA	p.D905E	ZBTB4_ENST00000380599.4_Missense_Mutation_p.D905E	NM_020899.3	NP_065950.2	Q9P1Z0	ZBTB4_HUMAN	zinc finger and BTB domain containing 4	905					cellular response to DNA damage stimulus (GO:0006974)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|methyl-CpNpG binding (GO:0010428)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)	p.D905E(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		CCTCCATCCGGTCCCCCTCAC	0.627																																						uc002ghc.3																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(2713-2715)GAC>GAA		zinc finger and BTB domain containing 4							48.0	56.0	53.0					17																	7365586		2203	4298	6501	SO:0001583	missense	57659				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:7365586G>T	AB040971	CCDS11107.1	17p13.2	2013-01-09			ENSG00000174282	ENSG00000174282		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	23847	protein-coding gene	gene with protein product		612308				12477932	Standard	NM_020899		Approved	KIAA1538, KAISO-L1, ZNF903	uc002ghd.4	Q9P1Z0	OTTHUMG00000108137	ENST00000311403.4:c.2715C>A	17.37:g.7365586G>T	ENSP00000307858:p.Asp905Glu					ZBTB4_uc002ghd.3_Missense_Mutation_p.D905E	p.D905E	NM_001128833	NP_001122305	Q9P1Z0	ZBTB4_HUMAN		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)	4	2965	-		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)	905					B3KVL6|Q7Z697|Q86XJ4|Q8N4V8	Missense_Mutation	SNP	ENST00000311403.4	37	c.2715C>A	CCDS11107.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.137549	0.37728	.	.	ENSG00000174282	ENST00000311403;ENST00000380599	T;T	0.03635	3.86;3.86	4.65	2.46	0.29980	.	0.222340	0.36703	N	0.002443	T	0.02727	0.0082	N	0.19112	0.55	0.28296	N	0.923342	B	0.19817	0.039	B	0.17433	0.018	T	0.30001	-0.9993	10	0.72032	D	0.01	-18.1755	7.523	0.27639	0.0954:0.1688:0.7358:0.0	.	905	Q9P1Z0	ZBTB4_HUMAN	E	905	ENSP00000307858:D905E;ENSP00000369973:D905E	ENSP00000307858:D905E	D	-	3	2	ZBTB4	7306310	0.999000	0.42202	1.000000	0.80357	0.886000	0.51366	1.241000	0.32743	1.277000	0.44412	0.655000	0.94253	GAC		PASS	0.627	ZBTB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226940.2	NM_020899		15	51	15	51	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:7577574T>C	ENST00000269305.4	-	7	896	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C	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	236	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)	GTTACACATGTAGTTGTAGTG	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		94	Substitution - Missense(69)|Deletion - In frame(9)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.Y236C(46)|p.Y236N(12)|p.Y236*(9)|p.Y236H(9)|p.0?(7)|p.Y236D(6)|p.Y236del(4)|p.Y236S(3)|p.Y236Y(2)|p.Y236fs*4(2)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.Y236fs*5(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)	breast(13)|ovary(13)|lung(9)|haematopoietic_and_lymphoid_tissue(7)|biliary_tract(6)|stomach(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|urinary_tract(5)|pancreas(5)|prostate(4)|bone(4)|liver(2)|large_intestine(2)|soft_tissue(1)|endometrium(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	CM004907	TP53	M		c.(706-708)TAC>TGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							126.0	100.0	109.0					17																	7577574		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.chr17:7577574T>C	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.707A>G	17.37:g.7577574T>C	ENSP00000269305:p.Tyr236Cys	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.Y236C|TP53_uc002gih.2_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C	p.Y236C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	901	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	236		Y -> S (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|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.707A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.62	3.173261	0.57584	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99801	-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81;-6.81	4.09	0.528	0.17089	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.335105	0.32884	N	0.005532	D	0.99582	0.9849	M	0.74258	2.255	0.44570	D	0.997534	D;D;D;D;D;D	0.89917	0.998;0.982;1.0;0.998;0.999;1.0	D;P;D;D;D;D	0.81914	0.974;0.898;0.99;0.985;0.992;0.995	D	0.99253	1.0888	10	0.87932	D	0	-12.7522	10.2884	0.43581	0.222:0.0:0.0:0.778	.	236;236;143;236;236;236	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	C	236;236;236;236;236;236;225;143;104;143	ENSP00000410739:Y236C;ENSP00000352610:Y236C;ENSP00000269305:Y236C;ENSP00000398846:Y236C;ENSP00000391127:Y236C;ENSP00000391478:Y236C;ENSP00000425104:Y104C;ENSP00000423862:Y143C	ENSP00000269305:Y236C	Y	-	2	0	TP53	7518299	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	1.502000	0.35704	0.034000	0.15491	0.379000	0.24179	TAC		PASS	0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	33	27	33	---	---	---	---
GLP2R	9340	broad.mit.edu	37	17	9763275	9763275	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:9763275G>C	ENST00000262441.5	+	7	1295	c.782G>C	c.(781-783)cGc>cCc	p.R261P	GLP2R_ENST00000574745.1_Missense_Mutation_p.R81P	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	261					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|positive regulation of cell proliferation (GO:0008284)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|glucagon receptor activity (GO:0004967)	p.R261P(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)|Teduglutide(DB08900)	ACCTCCTGCCGCTCAGTCCAG	0.572																																						uc002gmd.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)	3						c.(781-783)CGC>CCC		glucagon-like peptide 2 receptor precursor	Glucagon recombinant(DB00040)						101.0	85.0	90.0					17																	9763275		2203	4300	6503	SO:0001583	missense	9340				G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		g.chr17:9763275G>C	AF105367	CCDS11150.1	17p13.3	2012-08-10			ENSG00000065325	ENSG00000065325		"""GPCR / Class B : Glucagon receptors"""	4325	protein-coding gene	gene with protein product		603659				9990065	Standard	NM_004246		Approved		uc002gmd.1	O95838	OTTHUMG00000130269	ENST00000262441.5:c.782G>C	17.37:g.9763275G>C	ENSP00000262441:p.Arg261Pro						p.R261P	NM_004246	NP_004237	O95838	GLP2R_HUMAN			7	782	+			261			Extracellular (Potential).		Q4VAT3	Missense_Mutation	SNP	ENST00000262441.5	37	c.782G>C	CCDS11150.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.79|14.79	2.642030|2.642030	0.47153|0.47153	.|.	.|.	ENSG00000065325|ENSG00000065325	ENST00000458005|ENST00000396206;ENST00000304773;ENST00000262441	.|T	.|0.47528	.|0.84	5.34|5.34	5.34|5.34	0.76211|0.76211	.|GPCR, family 2-like (1);	.|0.000000	.|0.38217	.|N	.|0.001761	T|T	0.72277|0.72277	0.3440|0.3440	M|M	0.83774|0.83774	2.66|2.66	0.49915|0.49915	D|D	0.999837|0.999837	.|D	.|0.60575	.|0.988	.|D	.|0.76071	.|0.987	T|T	0.75838|0.75838	-0.3176|-0.3176	5|10	.|0.66056	.|D	.|0.02	.|.	18.1812|18.1812	0.89779|0.89779	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|261	.|O95838	.|GLP2R_HUMAN	P|P	114|261;236;261	.|ENSP00000262441:R261P	.|ENSP00000262441:R261P	A|R	+|+	1|2	0|0	GLP2R|GLP2R	9704000|9704000	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.914000|0.914000	0.54420|0.54420	6.729000|6.729000	0.74775|0.74775	2.643000|2.643000	0.89663|0.89663	0.655000|0.655000	0.94253|0.94253	GCT|CGC		PASS	0.572	GLP2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252601.4			26	47	26	47	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10356534	10356534	+	Missense_Mutation	SNP	T	T	C	rs558061741		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:10356534T>C	ENST00000255381.2	-	24	3156	c.3046A>G	c.(3046-3048)Atg>Gtg	p.M1016V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1016					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.M1016V(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCTCCTCCATCTGCAGGTCA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		19333	0.0		0.0	False		,,,				2504	0.001					uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(3046-3048)ATG>GTG		myosin, heavy polypeptide 4, skeletal muscle							294.0	269.0	277.0					17																	10356534		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356534T>C		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3046A>G	17.37:g.10356534T>C	ENSP00000255381:p.Met1016Val					uc002gml.1_Intron	p.M1016V	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			24	3157	-			1016			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.3046A>G	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.490228	0.26686	.	.	ENSG00000141048	ENST00000255381	D	0.82433	-1.61	5.28	4.31	0.51392	.	0.203527	0.23524	N	0.047257	T	0.55545	0.1927	N	0.00392	-1.555	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.53542	-0.8424	10	0.48119	T	0.1	.	12.1471	0.54029	0.0:0.8605:0.0:0.1395	.	1016	Q9Y623	MYH4_HUMAN	V	1016	ENSP00000255381:M1016V	ENSP00000255381:M1016V	M	-	1	0	MYH4	10297259	0.996000	0.38824	1.000000	0.80357	0.886000	0.51366	1.505000	0.35736	0.739000	0.32628	-0.119000	0.15052	ATG		PASS	0.493	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		57	219	57	219	---	---	---	---
CCDC144A	9720	broad.mit.edu	37	17	16593972	16593972	+	Silent	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:16593972A>G	ENST00000360524.8	+	1	334	c.258A>G	c.(256-258)agA>agG	p.R86R	RP11-219A15.1_ENST00000448331.3_Silent_p.R86R|CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000340621.5_Silent_p.R86R|RNU6-405P_ENST00000516637.1_RNA|CCDC144A_ENST00000456009.1_Silent_p.R86R|CCDC144A_ENST00000399273.1_Silent_p.R86R|CCDC144A_ENST00000443444.2_Silent_p.R86R	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	86								p.R86R(1)									AGCTCCACAGAGCTGCCCGGT	0.632																																						uc002gqk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(256-258)AGA>AGG		coiled-coil domain containing 144A							92.0	103.0	99.0					17																	16593972		2203	4298	6501	SO:0001819	synonymous_variant	9720							g.chr17:16593972A>G	BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.258A>G	17.37:g.16593972A>G							p.R86R	NM_014695	NP_055510	A2RUR9	C144A_HUMAN			1	334	+			86					O60311|Q6ZU57	Silent	SNP	ENST00000360524.8	37	c.258A>G	CCDS45621.1																																																																																				PASS	0.632	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444093.1			45	183	45	183	---	---	---	---
PIGS	94005	broad.mit.edu	37	17	26883210	26883210	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:26883210C>T	ENST00000308360.7	-	10	1530	c.1155G>A	c.(1153-1155)gtG>gtA	p.V385V	PIGS_ENST00000465444.1_5'Flank|PIGS_ENST00000395346.2_Silent_p.V377V|PIGS_ENST00000543734.1_Silent_p.V324V	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	385					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|membrane (GO:0016020)	GPI-anchor transamidase activity (GO:0003923)	p.V385V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					ACACCTCCATCACTCGCACCA	0.507																																						uc002hbo.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|urinary_tract(1)|kidney(1)	4						c.(1153-1155)GTG>GTA		phosphatidylinositol glycan anchor biosynthesis,							238.0	171.0	194.0					17																	26883210		2203	4300	6503	SO:0001819	synonymous_variant	94005				attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding	g.chr17:26883210C>T		CCDS11235.1	17p13.2	2013-02-26	2006-06-28		ENSG00000087111	ENSG00000087111		"""Phosphatidylinositol glycan anchor biosynthesis"""	14937	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	610271	"""phosphatidylinositol glycan, class S"""				Standard	NM_033198		Approved		uc002hbo.2	Q96S52	OTTHUMG00000132604	ENST00000308360.7:c.1155G>A	17.37:g.26883210C>T						PIGS_uc002hbn.2_Silent_p.V377V|PIGS_uc010wap.1_Silent_p.V324V	p.V385V	NM_033198	NP_149975	Q96S52	PIGS_HUMAN			10	1528	-	Lung NSC(42;0.00431)		385			Lumenal (Potential).		Q6UVX6	Silent	SNP	ENST00000308360.7	37	c.1155G>A	CCDS11235.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.301658	0.23736	.	.	ENSG00000087111	ENST00000268758	.	.	.	5.63	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4352	0.75140	0.1404:0.8596:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIGS	23907337	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.062000	0.41413	1.348000	0.45733	0.563000	0.77884	.		PASS	0.507	PIGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255833.3	NM_033198		89	65	89	65	---	---	---	---
CPD	1362	broad.mit.edu	37	17	28706695	28706695	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:28706695G>T	ENST00000225719.4	+	1	773	c.697G>T	c.(697-699)Gac>Tac	p.D233Y	CPD_ENST00000543464.2_5'Flank	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	233	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)	p.D233Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CCCCGCCCTGGACGAGGTGCC	0.706																																						uc002hfb.1																			1	Substitution - Missense(1)		lung(1)	liver(1)|skin(1)	2						c.(697-699)GAC>TAC		carboxypeptidase D precursor							8.0	8.0	8.0					17																	28706695		1563	2923	4486	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28706695G>T	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.697G>T	17.37:g.28706695G>T	ENSP00000225719:p.Asp233Tyr					CPD_uc010wbo.1_5'Flank|CPD_uc010wbp.1_5'Flank	p.D233Y	NM_001304	NP_001295	O75976	CBPD_HUMAN			1	712	+			233			Extracellular (Potential).|Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.697G>T	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428345	0.83667	.	.	ENSG00000108582	ENST00000225719	T	0.11385	2.78	3.7	3.7	0.42460	Peptidase M14, carboxypeptidase A (2);	1.290760	0.04959	N	0.461678	T	0.22551	0.0544	N	0.25485	0.75	0.80722	D	1	D	0.57571	0.98	P	0.60345	0.873	T	0.03717	-1.1010	10	0.72032	D	0.01	.	14.6645	0.68896	0.0:0.0:1.0:0.0	.	233	O75976	CBPD_HUMAN	Y	233	ENSP00000225719:D233Y	ENSP00000225719:D233Y	D	+	1	0	CPD	25730821	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.820000	0.75267	1.905000	0.55150	0.454000	0.30748	GAC		PASS	0.706	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		10	1	10	1	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29556345	29556345	+	Nonsense_Mutation	SNP	T	T	A	rs372963561		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:29556345T>A	ENST00000358273.4	+	21	3095	c.2712T>A	c.(2710-2712)tgT>tgA	p.C904*	NF1_ENST00000356175.3_Nonsense_Mutation_p.C904*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	904					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.?(4)|p.C904*(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)		TAATGGTGTGTAACCATGAGA	0.418			"""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		14	Whole gene deletion(8)|Unknown(4)|Substitution - Nonsense(2)	p.?(2)	soft_tissue(7)|lung(3)|autonomic_ganglia(2)|central_nervous_system(2)	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.(2710-2712)TGT>TGA		neurofibromin isoform 1							101.0	98.0	99.0					17																	29556345		2203	4300	6503	SO:0001587	stop_gained	4763	Neurofibromatosis_type_1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29556345T>A		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.2712T>A	17.37:g.29556345T>A	ENSP00000351015:p.Cys904*	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.2_Nonsense_Mutation_p.C904*|NF1_uc010csn.1_Nonsense_Mutation_p.C764*|NF1_uc002hgi.1_5'UTR	p.C904*	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)	21	3045	+		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)	904					O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	c.2712T>A	CCDS42292.1	.	.	.	.	.	.	.	.	.	.	.	44	10.776652	0.99465	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.5	4.43	0.53597	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.7042	0.23242	0.0:0.2606:0.0:0.7394	.	.	.	.	X	904;904;570	.	ENSP00000348498:C904X	C	+	3	2	NF1	26580471	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.515000	0.22801	2.095000	0.63458	0.454000	0.30748	TGT		PASS	0.418	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		88	55	88	55	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32955603	32955603	+	Silent	SNP	G	G	C	rs571632537		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:32955603G>C	ENST00000321639.5	+	4	1078	c.750G>C	c.(748-750)gtG>gtC	p.V250V		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	250						integral component of membrane (GO:0016021)		p.V250V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		AGAAGGGTGTGACCCTTTTAG	0.597																																						uc002hif.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(748-750)GTG>GTC		transmembrane protein 132E precursor							68.0	58.0	61.0					17																	32955603		2203	4300	6503	SO:0001819	synonymous_variant	124842					integral to membrane		g.chr17:32955603G>C	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.750G>C	17.37:g.32955603G>C							p.V250V	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	4	1078	+			250			Extracellular (Potential).		Q8WUF4|Q8WVA5	Silent	SNP	ENST00000321639.5	37	c.750G>C	CCDS11283.1																																																																																				PASS	0.597	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		42	60	42	60	---	---	---	---
MMP28	79148	broad.mit.edu	37	17	34106035	34106035	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:34106035T>A	ENST00000250144.8	-	3	565	c.236A>T	c.(235-237)gAc>gTc	p.D79V		NM_001032278.1	NP_001027449.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 28	79					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D79V(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	Marimastat(DB00786)	GGTGGCGCGGTCCAACACGCC	0.607																																						uc002hjy.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(235-237)GAC>GTC		matrix metalloproteinase 28 isoform 1							40.0	43.0	42.0					17																	34106035		2082	4216	6298	SO:0001583	missense	79148				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr17:34106035T>A	AF315683	CCDS45651.1, CCDS74036.1	17q12	2014-08-12	2005-08-08		ENSG00000271447	ENSG00000271447			14366	protein-coding gene	gene with protein product		608417	"""matrix metalloproteinase 28"""			11121398, 11255011	Standard	NM_024302		Approved	MMP-25, MM28, EPILYSIN, MMP-28	uc002hjy.1	Q9H239	OTTHUMG00000188387	ENST00000250144.8:c.236A>T	17.37:g.34106035T>A	ENSP00000250144:p.Asp79Val					MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.D79V	p.D79V	NM_024302	NP_077278	Q9H239	MMP28_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	495	-		Ovarian(249;0.17)	79					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000250144.8	37	c.236A>T	CCDS45651.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.701742	0.88924	.	.	ENSG00000129270	ENST00000338839;ENST00000538544;ENST00000250144	T	0.57595	0.39	5.47	5.47	0.80525	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.089701	0.85682	D	0.000000	T	0.73768	0.3629	.	.	.	0.51482	D	0.999922	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.78122	-0.2327	9	0.87932	D	0	.	14.7526	0.69536	0.0:0.0:0.0:1.0	.	79;79	Q9H239-2;Q9H239	.;MMP28_HUMAN	V	79	ENSP00000250144:D79V	ENSP00000250144:D79V	D	-	2	0	MMP28	31130148	1.000000	0.71417	0.529000	0.27951	0.934000	0.57294	7.168000	0.77570	2.079000	0.62486	0.533000	0.62120	GAC		PASS	0.607	MMP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449269.1	NM_024302		15	51	15	51	---	---	---	---
AATF	26574	broad.mit.edu	37	17	35311101	35311101	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:35311101C>T	ENST00000225402.5	+	4	977	c.726C>T	c.(724-726)atC>atT	p.I242I		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	242					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I242I(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				AAGGAAGGATCAAACTACAAA	0.468																																					NSCLC(49;901 1159 19183 41572 46244)	uc002hni.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(724-726)ATC>ATT		apoptosis antagonizing transcription factor							87.0	82.0	84.0					17																	35311101		2203	4300	6503	SO:0001819	synonymous_variant	26574				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity	g.chr17:35311101C>T	AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.726C>T	17.37:g.35311101C>T						AATF_uc002hnj.2_RNA	p.I242I	NM_012138	NP_036270	Q9NY61	AATF_HUMAN			4	977	+		Breast(25;0.00607)	242					A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Silent	SNP	ENST00000225402.5	37	c.726C>T	CCDS32632.1																																																																																				PASS	0.468	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		18	176	18	176	---	---	---	---
RAPGEFL1	51195	broad.mit.edu	37	17	38347644	38347644	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:38347644G>A	ENST00000456989.2	+	9	1005	c.959G>A	c.(958-960)cGc>cAc	p.R320H	RAPGEFL1_ENST00000264644.6_Missense_Mutation_p.R265H|RAPGEFL1_ENST00000544503.1_Missense_Mutation_p.R314H|RAPGEFL1_ENST00000436615.3_Missense_Mutation_p.R265H			Q9UHV5	RPGFL_HUMAN	Rap guanine nucleotide exchange factor (GEF)-like 1	471					G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.R265H(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CTGCTGCAGCGCTGCAGCGAG	0.692																																					Esophageal Squamous(28;274 750 6870 14218 42203)	uc010cwu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(793-795)CGC>CAC		Rap guanine nucleotide exchange factor							9.0	12.0	11.0					17																	38347644		2155	4218	6373	SO:0001583	missense	51195				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity	g.chr17:38347644G>A	AF117946	CCDS11363.1	17q21.2	2006-08-01	2004-03-26		ENSG00000108352	ENSG00000108352			17428	protein-coding gene	gene with protein product	"""Link guanine nucleotide exchange factor II"""		"""RAP guanine-nucleotide-exchange factor (GEF)-like 1"""				Standard	NM_016339		Approved	Link-GEFII	uc010cwu.1	Q9UHV5	OTTHUMG00000133325	ENST00000456989.2:c.959G>A	17.37:g.38347644G>A	ENSP00000394530:p.Arg320His					RAPGEFL1_uc010wfd.1_Missense_Mutation_p.R201H	p.R265H	NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN			9	1284	+			471			Ras-GEF.			Missense_Mutation	SNP	ENST00000456989.2	37	c.794G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.551143	0.96501	.	.	ENSG00000108352	ENST00000456989;ENST00000544503;ENST00000537255;ENST00000264644;ENST00000436615	T;T;T	0.33865	1.39;1.39;1.39	4.99	3.99	0.46301	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000001	T	0.53222	0.1783	L	0.55990	1.75	0.58432	D	0.999999	D;P	0.69078	0.997;0.941	D;P	0.69479	0.964;0.582	T	0.57682	-0.7769	10	0.87932	D	0	.	14.0465	0.64708	0.0:0.1528:0.8472:0.0	.	201;471	B4DGK9;Q9UHV5	.;RPGFL_HUMAN	H	320;314;265;470;265	ENSP00000394530:R320H;ENSP00000438631:R314H;ENSP00000408322:R265H	ENSP00000264644:R470H	R	+	2	0	RAPGEFL1	35601170	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.897000	0.92532	1.287000	0.44583	0.511000	0.50034	CGC		PASS	0.692	RAPGEFL1-005	PUTATIVE	non_canonical_conserved|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000397518.1	NM_016339		4	15	4	15	---	---	---	---
KRTAP4-4	84616	broad.mit.edu	37	17	39316871	39316871	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:39316871A>T	ENST00000390661.3	-	1	112	c.73T>A	c.(73-75)Tac>Aac	p.Y25N		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	25	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Y -> C (in dbSNP:rs385055).			keratin filament (GO:0045095)		p.Y25N(1)		kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GTCTGGCAGTAGCTGGGACGG	0.637																																						uc002hwc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)TAC>AAC		keratin associated protein 4.4							50.0	68.0	62.0					17																	39316871		2200	4300	6500	SO:0001583	missense	84616					keratin filament		g.chr17:39316871A>T	AJ406936	CCDS11383.1	17q21.2	2013-06-25			ENSG00000171396	ENSG00000171396		"""Keratin associated proteins"""	16928	protein-coding gene	gene with protein product			"""keratin associated protein 4-13"""	KRTAP4-13		11279113	Standard	NM_032524		Approved	KAP4.4, KAP4.13	uc002hwc.3	Q9BYR3	OTTHUMG00000133428	ENST00000390661.3:c.73T>A	17.37:g.39316871A>T	ENSP00000375076:p.Tyr25Asn						p.Y25N	NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	113	-		Breast(137;0.000496)	25			26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Q9BYU7	Missense_Mutation	SNP	ENST00000390661.3	37	c.73T>A	CCDS11383.1	.	.	.	.	.	.	.	.	.	.	.	9.545	1.114398	0.20795	.	.	ENSG00000171396	ENST00000390661	T	0.00588	6.37	4.62	4.62	0.57501	.	0.157197	0.29868	U	0.010999	T	0.00524	0.0017	N	0.24115	0.695	0.20873	N	0.999833	B	0.33940	0.433	B	0.28991	0.097	T	0.54503	-0.8284	10	0.72032	D	0.01	.	11.9807	0.53119	1.0:0.0:0.0:0.0	.	25	Q9BYR3	KRA44_HUMAN	N	25	ENSP00000375076:Y25N	ENSP00000375076:Y25N	Y	-	1	0	KRTAP4-4	36570397	0.003000	0.15002	0.849000	0.33467	0.359000	0.29487	0.528000	0.23002	1.714000	0.51371	0.454000	0.30748	TAC		PASS	0.637	KRTAP4-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257291.1			27	115	27	115	---	---	---	---
STAT5A	6776	broad.mit.edu	37	17	40447725	40447725	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:40447725C>T	ENST00000345506.4	+	6	1106	c.464C>T	c.(463-465)aCg>aTg	p.T155M	STAT5A_ENST00000546010.2_Missense_Mutation_p.T125M|STAT5A_ENST00000590949.1_Missense_Mutation_p.T155M|STAT5A_ENST00000588868.1_Missense_Mutation_p.T155M|STAT5A_ENST00000452307.2_Missense_Mutation_p.T155M	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	155					2-oxoglutarate metabolic process (GO:0006103)|allantoin metabolic process (GO:0000255)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|luteinization (GO:0001553)|mammary gland epithelium development (GO:0061180)|natural killer cell differentiation (GO:0001779)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of mast cell apoptotic process (GO:0033026)|oxaloacetate metabolic process (GO:0006107)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mast cell differentiation (GO:0060376)|positive regulation of mast cell proliferation (GO:0070668)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin signaling pathway (GO:0038161)|prostate gland epithelium morphogenesis (GO:0060740)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription, DNA-templated (GO:0006351)|valine metabolic process (GO:0006573)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	calcium ion binding (GO:0005509)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.T155M(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CGACTGGTCACGCAGGACACA	0.557																																						uc002hzj.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(463-465)ACG>ATG		signal transducer and activator of transcription							84.0	64.0	71.0					17																	40447725		2203	4300	6503	SO:0001583	missense	6776				2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr17:40447725C>T	U43185	CCDS11424.1, CCDS74066.1, CCDS74067.1	17q11.2	2013-02-14			ENSG00000126561	ENSG00000126561		"""SH2 domain containing"""	11366	protein-coding gene	gene with protein product		601511		STAT5		7719937, 8631883	Standard	NM_003152		Approved	MGF	uc002hzj.2	P42229	OTTHUMG00000150725	ENST00000345506.4:c.464C>T	17.37:g.40447725C>T	ENSP00000341208:p.Thr155Met					STAT5A_uc010cya.1_Missense_Mutation_p.T155M|STAT5A_uc010cyb.1_Missense_Mutation_p.T155M|STAT5A_uc010cyc.1_Missense_Mutation_p.T125M	p.T155M	NM_003152	NP_003143	P42229	STA5A_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	6	1106	+		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)	155					Q1KLZ6	Missense_Mutation	SNP	ENST00000345506.4	37	c.464C>T	CCDS11424.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222409	0.79464	.	.	ENSG00000126561	ENST00000345506;ENST00000546010;ENST00000540577;ENST00000452307	T;T;T	0.60299	0.2;0.2;0.2	5.42	4.39	0.52855	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.000000	0.85682	D	0.000000	T	0.72985	0.3529	M	0.74881	2.28	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.75374	-0.3340	10	0.72032	D	0.01	-8.7038	10.8845	0.46960	0.0:0.7962:0.1312:0.0726	.	125;157;155	Q1KLZ6;Q59GY7;P42229	.;.;STA5A_HUMAN	M	155;125;157;155	ENSP00000341208:T155M;ENSP00000443107:T125M;ENSP00000400320:T155M	ENSP00000341208:T155M	T	+	2	0	STAT5A	37701251	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.834000	0.62774	2.554000	0.86153	0.563000	0.77884	ACG		PASS	0.557	STAT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319804.1	NM_003152		8	38	8	38	---	---	---	---
AOC3	8639	broad.mit.edu	37	17	41004870	41004870	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:41004870A>T	ENST00000308423.2	+	1	1670	c.1510A>T	c.(1510-1512)Act>Tct	p.T504S	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	504					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)	p.T504S(1)		breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CTTTGGTGCTACTGGGAAGTA	0.542																																					NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1510-1512)ACT>TCT		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						94.0	83.0	86.0					17																	41004870		2203	4300	6503	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004870A>T	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.1510A>T	17.37:g.41004870A>T	ENSP00000312326:p.Thr504Ser						p.T504S	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	1670	+		Breast(137;0.000143)	504			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.1510A>T	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	A	5.779	0.328039	0.10956	.	.	ENSG00000131471	ENST00000308423	T	0.03468	3.92	5.26	3.21	0.36854	Copper amine oxidase, C-terminal (3);	0.499872	0.17942	U	0.156813	T	0.01558	0.0050	N	0.02011	-0.69	0.40002	D	0.975171	B	0.02656	0.0	B	0.04013	0.001	T	0.50898	-0.8773	10	0.13470	T	0.59	.	9.6486	0.39883	0.0753:0.0:0.7834:0.1412	.	504	Q16853	AOC3_HUMAN	S	504	ENSP00000312326:T504S	ENSP00000312326:T504S	T	+	1	0	AOC3	38258396	0.999000	0.42202	0.131000	0.22000	0.179000	0.23085	3.751000	0.55165	0.673000	0.31224	-0.242000	0.12053	ACT		PASS	0.542	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		92	46	92	46	---	---	---	---
BRCA1	672	broad.mit.edu	37	17	41219706	41219706	+	Missense_Mutation	SNP	C	C	A	rs80357169		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:41219706C>A	ENST00000357654.3	-	16	5111	c.4993G>T	c.(4993-4995)Gtg>Ttg	p.V1665L	BRCA1_ENST00000471181.2_Missense_Mutation_p.V1686L|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.V1618L|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.V561L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000468300.1_Missense_Mutation_p.V561L|BRCA1_ENST00000591534.1_Missense_Mutation_p.V156L|BRCA1_ENST00000351666.3_Missense_Mutation_p.V482L|BRCA1_ENST00000309486.4_Missense_Mutation_p.V1369L|BRCA1_ENST00000352993.3_Missense_Mutation_p.V523L|BRCA1_ENST00000354071.3_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1665	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.		V -> M. {ECO:0000269|PubMed:15026808}.		androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V1665L(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AACTTGTACACGAGCATCTGA	0.348			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		1	Substitution - Missense(1)		lung(1)	ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(4993-4995)GTG>TTG	Homologous_recombination	breast cancer 1, early onset isoform 1							116.0	113.0	114.0					17																	41219706		2202	4300	6502	SO:0001583	missense	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41219706C>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.4993G>T	17.37:g.41219706C>A	ENSP00000350283:p.Val1665Leu	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Missense_Mutation_p.V514L|BRCA1_uc010whl.1_Missense_Mutation_p.V561L|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.V1594L|BRCA1_uc002icu.2_Missense_Mutation_p.V561L|BRCA1_uc010cyx.2_Missense_Mutation_p.V1618L|BRCA1_uc002ict.2_Missense_Mutation_p.V1686L|BRCA1_uc010whn.1_Missense_Mutation_p.V156L|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.V394L|BRCA1_uc002idc.1_Missense_Mutation_p.V561L|BRCA1_uc010whr.1_Missense_Mutation_p.V515L	p.V1665L	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	16	5225	-		Breast(137;0.000717)	1665		V -> M.	BRCT 1.		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.4993G>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	10.64	1.407512	0.25378	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	D;D;D;D;D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.24	3.24	0.37175	BRCT (4);	0.142304	0.32357	N	0.006206	T	0.79839	0.4515	L	0.56769	1.78	0.38102	D	0.937288	P;B;B;B;B;B;B;B	0.39748	0.686;0.057;0.249;0.238;0.047;0.249;0.009;0.209	B;B;B;B;B;B;B;B	0.41646	0.362;0.032;0.129;0.063;0.129;0.169;0.006;0.067	T	0.80077	-0.1533	10	0.87932	D	0	-4.8417	8.4225	0.32710	0.0:0.8174:0.0:0.1826	.	561;514;560;562;561;1687;1665;1665	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	L	1665;1686;523;482;1369;561;514;1687;1618;560;561;436;515	ENSP00000350283:V1665L;ENSP00000312236:V523L;ENSP00000338007:V482L;ENSP00000310938:V1369L;ENSP00000417148:V561L;ENSP00000377294:V514L;ENSP00000418775:V1618L;ENSP00000420412:V561L;ENSP00000419481:V436L;ENSP00000418819:V515L	ENSP00000310938:V1369L	V	-	1	0	BRCA1	38473232	0.993000	0.37304	0.457000	0.27056	0.213000	0.24496	1.958000	0.40402	0.700000	0.31782	-0.263000	0.10527	GTG		PASS	0.348	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		61	45	61	45	---	---	---	---
MPP3	4356	broad.mit.edu	37	17	41891578	41891578	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:41891578C>A	ENST00000398389.4	-	15	1326	c.1161G>T	c.(1159-1161)ctG>ctT	p.L387L	MPP3_ENST00000398393.1_Silent_p.L412L|MPP3_ENST00000475450.1_5'UTR	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	387	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)	p.L387L(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TCAGAACCACCAGGCGGGGCC	0.627																																						uc002iei.3																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(1159-1161)CTG>CTT		palmitoylated membrane protein 3							108.0	121.0	117.0					17																	41891578		1916	4120	6036	SO:0001819	synonymous_variant	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41891578C>A		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1161G>T	17.37:g.41891578C>A						MPP3_uc002ieh.2_Silent_p.L412L|MPP3_uc002iej.2_RNA	p.L387L	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	15	1327	-		Breast(137;0.00394)	387			Guanylate kinase-like.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Silent	SNP	ENST00000398389.4	37	c.1161G>T	CCDS42344.1																																																																																				PASS	0.627	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932		167	100	167	100	---	---	---	---
ADAM11	4185	broad.mit.edu	37	17	42855529	42855529	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:42855529G>C	ENST00000200557.6	+	25	2364	c.2195G>C	c.(2194-2196)gGc>gCc	p.G732A	ADAM11_ENST00000535346.1_Missense_Mutation_p.G532A	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	732					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G732A(2)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				GGTCCCAGCGGCACCAACATC	0.607																																						uc002ihh.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(2194-2196)GGC>GCC		ADAM metallopeptidase domain 11 preproprotein							66.0	48.0	54.0					17																	42855529		2203	4300	6503	SO:0001583	missense	4185				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr17:42855529G>C	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.2195G>C	17.37:g.42855529G>C	ENSP00000200557:p.Gly732Ala					ADAM11_uc010wjd.1_Missense_Mutation_p.G532A|ADAM11_uc002ihi.2_Missense_Mutation_p.A85P	p.G732A	NM_002390	NP_002381	O75078	ADA11_HUMAN			25	2195	+		Prostate(33;0.0959)	732			Extracellular (Potential).		Q14808|Q14809|Q14810	Missense_Mutation	SNP	ENST00000200557.6	37	c.2195G>C	CCDS11486.1	.	.	.	.	.	.	.	.	.	.	G	11.54	1.669596	0.29693	.	.	ENSG00000073670	ENST00000200557;ENST00000535346	T;T	0.01933	4.55;4.94	4.83	4.83	0.62350	.	0.125811	0.52532	D	0.000062	T	0.04998	0.0134	N	0.21240	0.645	0.80722	D	1	B;D	0.61080	0.047;0.989	B;P	0.60949	0.058;0.881	T	0.65001	-0.6274	10	0.17832	T	0.49	.	17.0504	0.86517	0.0:0.0:1.0:0.0	.	532;732	B4DKD2;O75078	.;ADA11_HUMAN	A	732;532	ENSP00000200557:G732A;ENSP00000443773:G532A	ENSP00000200557:G732A	G	+	2	0	ADAM11	40211055	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.405000	0.66351	2.390000	0.81377	0.561000	0.74099	GGC		PASS	0.607	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444531.1	NM_002390		8	29	8	29	---	---	---	---
WFIKKN2	124857	broad.mit.edu	37	17	48917193	48917193	+	Missense_Mutation	SNP	C	C	A	rs34367279		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:48917193C>A	ENST00000311378.4	+	2	1072	c.544C>A	c.(544-546)Ccc>Acc	p.P182T	RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Missense_Mutation_p.P89T	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	182					muscle fiber development (GO:0048747)|negative regulation of DNA binding (GO:0043392)|negative regulation of protein binding (GO:0032091)|palate development (GO:0060021)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)	metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.P182T(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CTTCACCTGGCCCAACACCAG	0.627																																						uc002isv.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(544-546)CCC>ACC		WFIKKN2 protein							88.0	84.0	85.0					17																	48917193		2203	4300	6503	SO:0001583	missense	124857					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity	g.chr17:48917193C>A	AY358142	CCDS11575.1	17q21.33	2013-01-21			ENSG00000173714	ENSG00000173714		"""Immunoglobulin superfamily / I-set domain containing"", ""WAP four-disulfide core domain containing"""	30916	protein-coding gene	gene with protein product	"""WAP four-disulfide core domain 20B"""	610895				11928817, 12709070	Standard	NM_175575		Approved	WFIKKNRP, WFDC20B	uc002isv.4	Q8TEU8	OTTHUMG00000162274	ENST00000311378.4:c.544C>A	17.37:g.48917193C>A	ENSP00000311184:p.Pro182Thr					WFIKKN2_uc010dbu.2_Missense_Mutation_p.P89T	p.P182T	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.09e-08)		2	1238	+			182					Q6UXZ9	Missense_Mutation	SNP	ENST00000311378.4	37	c.544C>A	CCDS11575.1	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856609	0.71834	.	.	ENSG00000173714	ENST00000426127;ENST00000311378	D;D	0.81996	-1.52;-1.56	5.41	5.41	0.78517	.	0.060585	0.64402	D	0.000002	D	0.90577	0.7046	M	0.73962	2.25	0.58432	D	0.999998	D	0.76494	0.999	D	0.66847	0.947	D	0.89982	0.4101	10	0.44086	T	0.13	.	19.1968	0.93693	0.0:1.0:0.0:0.0	.	182	Q8TEU8	WFKN2_HUMAN	T	89;182	ENSP00000405889:P89T;ENSP00000311184:P182T	ENSP00000311184:P182T	P	+	1	0	WFIKKN2	46272192	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.475000	0.81041	2.517000	0.84864	0.651000	0.88453	CCC		PASS	0.627	WFIKKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368358.1	NM_175575		24	32	24	32	---	---	---	---
CEP95	90799	broad.mit.edu	37	17	62533868	62533868	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:62533868T>G	ENST00000556440.2	+	20	2947	c.2437T>G	c.(2437-2439)Ttt>Gtt	p.F813V	CEP95_ENST00000553412.1_Missense_Mutation_p.F649V	NM_138363.1	NP_612372.1	Q96GE4	CEP95_HUMAN	centrosomal protein 95kDa	813						centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922)		p.F813V(2)		endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)	13						GCTGGCTTCCTTTCAGTACAG	0.478																																						uc002jem.2																			2	Substitution - Missense(2)		lung(2)		0						c.(2437-2439)TTT>GTT		coiled-coil domain containing 45							41.0	40.0	41.0					17																	62533868		1878	4105	5983	SO:0001583	missense	90799					centrosome|spindle pole	protein binding	g.chr17:62533868T>G	AL832822	CCDS45763.1	17q24.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000258890	ENSG00000258890			25141	protein-coding gene	gene with protein product			"""coiled-coil domain containing 45"""	CCDC45		21399614	Standard	NM_138363		Approved	DKFZp667E1824	uc002jem.3	Q96GE4	OTTHUMG00000179174	ENST00000556440.2:c.2437T>G	17.37:g.62533868T>G	ENSP00000450461:p.Phe813Val					CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Missense_Mutation_p.F649V	p.F813V	NM_138363	NP_612372	Q96GE4	CEP95_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		20	2495	+	Breast(5;1.32e-14)		813					B4DMD2|Q96M81	Missense_Mutation	SNP	ENST00000556440.2	37	c.2437T>G	CCDS45763.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.586535	0.86851	.	.	ENSG00000258890	ENST00000553956;ENST00000556440;ENST00000553412	T;T	0.56444	0.46;0.5	5.91	3.69	0.42338	.	0.157249	0.56097	D	0.000021	T	0.57110	0.2031	L	0.56769	1.78	0.41950	D	0.990652	D	0.58620	0.983	P	0.51657	0.676	T	0.61676	-0.7014	10	0.87932	D	0	-10.2928	10.5588	0.45133	0.0:0.1325:0.0:0.8675	.	813	Q96GE4	CEP95_HUMAN	V	748;813;649	ENSP00000450461:F813V;ENSP00000450906:F649V	ENSP00000438458:F748V	F	+	1	0	CEP95	59964330	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	4.754000	0.62191	1.073000	0.40885	0.379000	0.24179	TTT		PASS	0.478	CEP95-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445100.2	NM_138363		6	24	6	24	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65889725	65889725	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:65889725G>T	ENST00000321892.4	+	8	2734	c.2673G>T	c.(2671-2673)tgG>tgT	p.W891C	BPTF_ENST00000335221.5_Missense_Mutation_p.W891C|BPTF_ENST00000424123.3_Missense_Mutation_p.W752C|BPTF_ENST00000306378.6_Missense_Mutation_p.W765C			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	891	Interaction with MAZ.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.W765C(1)|p.W891C(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGTTCAAATGGAACGGTTCTG	0.423																																						uc002jgf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2293-2295)TGG>TGT		bromodomain PHD finger transcription factor							46.0	45.0	45.0					17																	65889725		2202	4278	6480	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65889725G>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2673G>T	17.37:g.65889725G>T	ENSP00000315454:p.Trp891Cys					BPTF_uc002jge.2_Missense_Mutation_p.W891C|BPTF_uc010wqm.1_Missense_Mutation_p.W828C	p.W765C	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	2356	+	all_cancers(12;6e-11)		891			Interaction with MAZ.		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.2295G>T		.	.	.	.	.	.	.	.	.	.	G	16.92	3.255733	0.59321	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	D;D;D	0.85629	-1.92;-2.01;-1.96	5.61	5.61	0.85477	.	.	.	.	.	D	0.93530	0.7935	M	0.85041	2.73	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.964	D	0.93794	0.7095	9	0.87932	D	0	-5.2481	20.0016	0.97412	0.0:0.0:1.0:0.0	.	891;765;891	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	C	796;765;891;891;689	ENSP00000307208:W765C;ENSP00000334351:W891C;ENSP00000315454:W891C	ENSP00000307208:W765C	W	+	3	0	BPTF	63320187	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.777000	0.99008	2.802000	0.96397	0.655000	0.94253	TGG		PASS	0.423	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459		37	116	37	116	---	---	---	---
BPTF	2186	broad.mit.edu	37	17	65925453	65925453	+	Splice_Site	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:65925453C>T	ENST00000321892.4	+	19	6439	c.6378C>T	c.(6376-6378)ggC>ggT	p.G2126G	BPTF_ENST00000335221.5_Splice_Site_p.G2126G|BPTF_ENST00000424123.3_Splice_Site_p.G1987G|BPTF_ENST00000306378.6_Splice_Site_p.G2000G			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2126					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.G2000G(1)|p.G2126G(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTTTAAGGCGTTGTTCAAG	0.428																																						uc002jgf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(2)	4						c.(5998-6000)GGC>GGT		bromodomain PHD finger transcription factor							79.0	78.0	78.0					17																	65925453		2203	4300	6503	SO:0001630	splice_region_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65925453C>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.6377-1C>T	17.37:g.65925453C>T						BPTF_uc002jge.2_Silent_p.G2126G	p.G2000G	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		17	6061	+	all_cancers(12;6e-11)		2126					Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.6000C>T																																																																																					PASS	0.428	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	Silent	70	68	70	68	---	---	---	---
ABCA6	23460	broad.mit.edu	37	17	67081191	67081191	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:67081191C>G	ENST00000284425.2	-	32	4336	c.4162G>C	c.(4162-4164)Gac>Cac	p.D1388H	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1388	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.D1388H(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGCCTCGCGTCCGCTTTCCTG	0.557																																						uc002jhw.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1)	7						c.(4162-4164)GAC>CAC		ATP-binding cassette, sub-family A, member 6							67.0	48.0	54.0					17																	67081191		2203	4300	6503	SO:0001583	missense	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67081191C>G	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4162G>C	17.37:g.67081191C>G	ENSP00000284425:p.Asp1388His						p.D1388H	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			32	4337	-	Breast(10;5.65e-12)		1388			ABC transporter 2.		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	ENST00000284425.2	37	c.4162G>C	CCDS11683.1	.	.	.	.	.	.	.	.	.	.	C	14.80	2.644185	0.47258	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.94497	-3.44	4.77	2.74	0.32292	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.315577	0.22196	N	0.063314	D	0.95481	0.8532	M	0.62723	1.935	0.24338	N	0.994973	B	0.32031	0.352	P	0.53689	0.732	D	0.89542	0.3793	10	0.35671	T	0.21	.	9.1653	0.37048	0.0:0.7703:0.1477:0.082	.	1388	Q8N139	ABCA6_HUMAN	H	1388;248	ENSP00000284425:D1388H	ENSP00000284425:D1388H	D	-	1	0	ABCA6	64592786	0.993000	0.37304	0.007000	0.13788	0.002000	0.02628	6.028000	0.70889	0.708000	0.31955	-0.136000	0.14681	GAC		PASS	0.557	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284		28	29	28	29	---	---	---	---
CD300C	10871	broad.mit.edu	37	17	72539114	72539114	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:72539114G>T	ENST00000330793.1	-	3	773	c.413C>A	c.(412-414)aCa>aAa	p.T138K		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	138	Pro-rich.				cellular defense response (GO:0006968)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.T138K(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGGAGGCTGTGGTCGTCCC	0.597																																					Esophageal Squamous(66;421 1121 20537 25337 27468)	uc002jky.1																			1	Substitution - Missense(1)		lung(1)		0						c.(412-414)ACA>AAA		CD300C antigen precursor							118.0	101.0	107.0					17																	72539114		2203	4300	6503	SO:0001583	missense	10871				cellular defense response	integral to plasma membrane	transmembrane receptor activity	g.chr17:72539114G>T	BC022279	CCDS11701.1	17q25.2	2014-05-15	2006-03-28		ENSG00000167850	ENSG00000167850		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19320	protein-coding gene	gene with protein product		606786	"""CD300c antigen"""			1349532, 10746781	Standard	NM_006678		Approved	CMRF35, LIR, CMRF-35A, CMRF35A, IGSF16	uc002jky.2	Q08708	OTTHUMG00000067608	ENST00000330793.1:c.413C>A	17.37:g.72539114G>T	ENSP00000329507:p.Thr138Lys						p.T138K	NM_006678	NP_006669	Q08708	CLM6_HUMAN			3	774	-			138			Pro-rich.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000330793.1	37	c.413C>A	CCDS11701.1	.	.	.	.	.	.	.	.	.	.	G	4.231	0.041767	0.08196	.	.	ENSG00000167850	ENST00000330793	T	0.03831	3.79	3.0	-2.11	0.07187	.	2.026570	0.02956	N	0.142494	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.29378	0.243	B	0.30029	0.11	T	0.40905	-0.9538	10	0.27785	T	0.31	.	6.0936	0.20008	0.0:0.174:0.2953:0.5308	.	138	Q08708	CLM6_HUMAN	K	138	ENSP00000329507:T138K	ENSP00000329507:T138K	T	-	2	0	CD300C	70050709	0.000000	0.05858	0.000000	0.03702	0.103000	0.19146	-0.797000	0.04570	-0.326000	0.08564	0.297000	0.19635	ACA		PASS	0.597	CD300C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145084.1	NM_006678		5	132	5	132	---	---	---	---
SAP30BP	29115	broad.mit.edu	37	17	73702537	73702537	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:73702537C>T	ENST00000584667.1	+	11	1120	c.863C>T	c.(862-864)gCc>gTc	p.A288V	SAP30BP_ENST00000355423.3_Missense_Mutation_p.A272V	NM_013260.6	NP_037392.1			SAP30 binding protein									p.A288V(1)		kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACCACCAGCGCCAGCGGCTCC	0.607																																						uc002jpe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(862-864)GCC>GTC		transcriptional regulator protein							163.0	136.0	145.0					17																	73702537		2203	4300	6503	SO:0001583	missense	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73702537C>T	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.863C>T	17.37:g.73702537C>T	ENSP00000462116:p.Ala288Val					SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Missense_Mutation_p.A272V	p.A288V	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		11	917	+	all_cancers(13;6.42e-08)		288			Thr-rich.			Missense_Mutation	SNP	ENST00000584667.1	37	c.863C>T	CCDS11726.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304147	0.81136	.	.	ENSG00000161526	ENST00000355423;ENST00000293208	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.50188	0.1601	L	0.33189	0.99	0.80722	D	1	P;P	0.42518	0.782;0.675	B;B	0.38712	0.28;0.145	T	0.50215	-0.8854	9	0.39692	T	0.17	-19.7008	19.586	0.95490	0.0:1.0:0.0:0.0	.	272;288	Q9UHR5-2;Q9UHR5	.;S30BP_HUMAN	V	288;272	.	ENSP00000293208:A272V	A	+	2	0	SAP30BP	71214132	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.487000	0.81328	2.621000	0.88768	0.650000	0.86243	GCC		PASS	0.607	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		113	139	113	139	---	---	---	---
ITGB4	3691	broad.mit.edu	37	17	73747075	73747075	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:73747075C>T	ENST00000200181.3	+	30	3863	c.3676C>T	c.(3676-3678)Ctg>Ttg	p.L1226L	ITGB4_ENST00000450894.3_Silent_p.L1226L|ITGB4_ENST00000339591.3_Silent_p.L1226L|ITGB4_ENST00000579662.1_Silent_p.L1226L|ITGB4_ENST00000449880.2_Silent_p.L1226L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1226	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)	p.L1226L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCAGGGCGTCTGGCCTTCAA	0.632																																						uc002jpg.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)	4						c.(3676-3678)CTG>TTG		integrin beta 4 isoform 1 precursor							107.0	101.0	103.0					17																	73747075		2203	4300	6503	SO:0001819	synonymous_variant	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73747075C>T		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.3676C>T	17.37:g.73747075C>T						ITGB4_uc002jph.2_Silent_p.L1226L|ITGB4_uc002jpi.3_Silent_p.L1226L|ITGB4_uc002jpj.2_Silent_p.L1226L	p.L1226L	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		30	3863	+	all_cancers(13;1.5e-07)		1226			Fibronectin type-III 2.|Cytoplasmic (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Silent	SNP	ENST00000200181.3	37	c.3676C>T	CCDS11727.1																																																																																				PASS	0.632	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1			55	222	55	222	---	---	---	---
MGAT5B	146664	broad.mit.edu	37	17	74944914	74944914	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr17:74944914T>C	ENST00000569840.2	+	18	2947	c.2373T>C	c.(2371-2373)tgT>tgC	p.C791C	MGAT5B_ENST00000428789.2_Silent_p.C800C|MGAT5B_ENST00000301618.4_Silent_p.C789C|RP11-87G24.3_ENST00000564292.1_RNA	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	791					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)	p.C789C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCAGGGCTGTCTGTGAATCC	0.677																																						uc002jti.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2398-2400)TGT>TGC		N-acetylglucosaminyltranferase VB isoform 2							20.0	23.0	22.0					17																	74944914		2202	4296	6498	SO:0001819	synonymous_variant	146664					Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr17:74944914T>C	AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.2373T>C	17.37:g.74944914T>C						MGAT5B_uc002jth.2_Silent_p.C789C|MGAT5B_uc002jtj.2_Silent_p.C196C	p.C800C	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN			16	2503	+			791			Lumenal (Potential).		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	ENST00000569840.2	37	c.2400T>C	CCDS59299.1																																																																																				PASS	0.677	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460624.2	NM_144677		3	15	3	15	---	---	---	---
ANKRD12	23253	broad.mit.edu	37	18	9208692	9208692	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr18:9208692A>T	ENST00000262126.4	+	5	582	c.342A>T	c.(340-342)gaA>gaT	p.E114D	ANKRD12_ENST00000383440.2_Missense_Mutation_p.E91D|ANKRD12_ENST00000400020.3_Missense_Mutation_p.E91D|ANKRD12_ENST00000540578.2_3'UTR	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	114						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E114D(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						CAAAAAAGGAAGCTGGAAATA	0.353																																						uc002knv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(340-342)GAA>GAT		ankyrin repeat domain 12 isoform 1							118.0	106.0	110.0					18																	9208692		2203	4300	6503	SO:0001583	missense	23253					nucleus		g.chr18:9208692A>T	AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.342A>T	18.37:g.9208692A>T	ENSP00000262126:p.Glu114Asp					ANKRD12_uc010wzn.1_Missense_Mutation_p.E114D|ANKRD12_uc002knw.2_Missense_Mutation_p.E91D|ANKRD12_uc002knx.2_Missense_Mutation_p.E91D	p.E114D	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN			5	599	+			114					O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	ENST00000262126.4	37	c.342A>T	CCDS11843.1	.	.	.	.	.	.	.	.	.	.	A	12.63	1.995173	0.35226	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T;T	0.70516	-0.49;0.77;3.31	5.82	1.62	0.23740	.	0.102769	0.64402	N	0.000003	T	0.57577	0.2063	L	0.43152	1.355	0.42822	D	0.993992	B;B;B	0.24043	0.015;0.096;0.022	B;B;B	0.22152	0.01;0.038;0.011	T	0.52351	-0.8587	10	0.49607	T	0.09	-1.3957	6.9699	0.24642	0.5905:0.0:0.0702:0.3394	.	114;91;114	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	D	91;91;114;114	ENSP00000372932:E91D;ENSP00000441510:E91D;ENSP00000262126:E114D	ENSP00000262126:E114D	E	+	3	2	ANKRD12	9198692	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	2.476000	0.45171	0.432000	0.26286	-0.691000	0.03719	GAA		PASS	0.353	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254478.2	NM_015208		61	57	61	57	---	---	---	---
RNMT	8731	broad.mit.edu	37	18	13759960	13759960	+	Silent	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr18:13759960C>G	ENST00000383314.2	+	12	1653	c.1413C>G	c.(1411-1413)gcC>gcG	p.A471A	RNMT_ENST00000592764.1_Intron|RNMT_ENST00000589866.1_Silent_p.A471A|RNMT_ENST00000535051.1_Silent_p.A229A|RNMT_ENST00000543302.2_Silent_p.A471A|RNMT_ENST00000262173.3_Silent_p.A471A			O43148	MCES_HUMAN	RNA (guanine-7-) methyltransferase	471	mRNA cap 0 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00895}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA (guanine-N7)-methylation (GO:0036265)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|receptor complex (GO:0043235)	mRNA (guanine-N7-)-methyltransferase activity (GO:0004482)|RNA binding (GO:0003723)	p.A471A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						TGGTGTTTGCCTTTGAGAAAC	0.353																																					GBM(29;474 594 19092 36647 41529)	uc002ksk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1411-1413)GCC>GCG		RNA (guanine-7-) methyltransferase							116.0	111.0	113.0					18																	13759960		2203	4300	6503	SO:0001819	synonymous_variant	8731				mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	mRNA (guanine-N7-)-methyltransferase activity|RNA binding	g.chr18:13759960C>G	AF067791	CCDS11867.1	18p11.21	2008-05-14			ENSG00000101654	ENSG00000101654	2.1.1.56		10075	protein-coding gene	gene with protein product		603514				9828141, 9705270	Standard	NM_003799		Approved	RG7MT1	uc002ksl.1	O43148	OTTHUMG00000131718	ENST00000383314.2:c.1413C>G	18.37:g.13759960C>G						RNMT_uc002ksl.1_Silent_p.A471A|RNMT_uc002ksm.1_Silent_p.A471A|RNMT_uc010dlk.2_Intron|RNMT_uc010xae.1_RNA	p.A471A	NM_003799	NP_003790	O43148	MCES_HUMAN			11	1480	+			471					B0YJ90|D3DUJ5|O94996|Q9UIJ9	Silent	SNP	ENST00000383314.2	37	c.1413C>G	CCDS11867.1																																																																																				PASS	0.353	RNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254636.1	NM_003799		30	39	30	39	---	---	---	---
ROCK1	6093	broad.mit.edu	37	18	18571141	18571141	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr18:18571141C>T	ENST00000399799.2	-	18	3079	c.2139G>A	c.(2137-2139)atG>atA	p.M713I		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	713	Glu-rich.|Interaction with FHOD1.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M713I(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACTTACCACACATTGCCACAG	0.318																																						uc002kte.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|breast(2)|central_nervous_system(1)	5						c.(2137-2139)ATG>ATA		Rho-associated, coiled-coil containing protein							215.0	201.0	206.0					18																	18571141		2203	4299	6502	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18571141C>T		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.2139G>A	18.37:g.18571141C>T	ENSP00000382697:p.Met713Ile						p.M713I	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			18	3080	-	Melanoma(1;0.165)		713			Glu-rich.|Interaction with FHOD1.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.2139G>A	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480205	0.63849	.	.	ENSG00000067900	ENST00000399799	T	0.63255	-0.03	4.02	4.02	0.46733	.	0.040006	0.85682	D	0.000000	T	0.61185	0.2327	M	0.73962	2.25	0.58432	D	0.999995	B	0.20887	0.049	B	0.16722	0.016	T	0.60337	-0.7283	10	0.16420	T	0.52	.	16.6822	0.85295	0.0:1.0:0.0:0.0	.	713	Q13464	ROCK1_HUMAN	I	713	ENSP00000382697:M713I	ENSP00000382697:M713I	M	-	3	0	ROCK1	16825139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.894000	0.75655	2.213000	0.71641	0.655000	0.94253	ATG		PASS	0.318	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		217	164	217	164	---	---	---	---
MIB1	57534	broad.mit.edu	37	18	19424132	19424132	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr18:19424132A>T	ENST00000261537.6	+	15	2393	c.2129A>T	c.(2128-2130)cAc>cTc	p.H710L	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	710					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H710L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTAAGGCATCACACTTTGTCT	0.468																																						uc002ktq.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(2128-2130)CAC>CTC		mindbomb homolog 1							185.0	157.0	166.0					18																	19424132		2203	4300	6503	SO:0001583	missense	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19424132A>T	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.2129A>T	18.37:g.19424132A>T	ENSP00000261537:p.His710Leu					MIB1_uc002ktp.2_Missense_Mutation_p.H349L	p.H710L	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		15	2129	+			710			ANK 9.		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	ENST00000261537.6	37	c.2129A>T	CCDS11871.1	.	.	.	.	.	.	.	.	.	.	A	28.3	4.905961	0.92107	.	.	ENSG00000101752	ENST00000261537	T	0.15487	2.42	5.48	4.3	0.51218	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.10852	0.0265	N	0.19112	0.55	0.80722	D	1	B	0.34372	0.451	B	0.34991	0.193	T	0.22906	-1.0203	10	0.19147	T	0.46	-12.2074	11.6044	0.51024	0.9289:0.0:0.0711:0.0	.	710	Q86YT6	MIB1_HUMAN	L	710	ENSP00000261537:H710L	ENSP00000261537:H710L	H	+	2	0	MIB1	17678130	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.920000	0.75799	2.081000	0.62600	0.482000	0.46254	CAC		PASS	0.468	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	NM_020774		50	280	50	280	---	---	---	---
CDH2	1000	broad.mit.edu	37	18	25562912	25562912	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr18:25562912T>A	ENST00000269141.3	-	14	2768	c.2345A>T	c.(2344-2346)gAc>gTc	p.D782V	CDH2_ENST00000399380.3_Missense_Mutation_p.D751V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	782					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.D782V(1)		NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCTCACCTGGTCTTCTTCTCC	0.323																																						uc002kwg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)	4						c.(2344-2346)GAC>GTC		cadherin 2, type 1 preproprotein							103.0	103.0	103.0					18																	25562912		2203	4300	6503	SO:0001583	missense	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25562912T>A	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2345A>T	18.37:g.25562912T>A	ENSP00000269141:p.Asp782Val					CDH2_uc010xbn.1_Missense_Mutation_p.D751V	p.D782V	NM_001792	NP_001783	P19022	CADH2_HUMAN			14	2804	-			782			Cytoplasmic (Potential).		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	ENST00000269141.3	37	c.2345A>T	CCDS11891.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.539611	0.85917	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	D;D	0.87179	-2.22;-2.22	5.82	5.82	0.92795	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.95589	0.8566	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.96835	0.9614	10	0.87932	D	0	.	16.1697	0.81793	0.0:0.0:0.0:1.0	.	751;782	A8MWK3;P19022	.;CADH2_HUMAN	V	782;751	ENSP00000269141:D782V;ENSP00000382312:D751V	ENSP00000269141:D782V	D	-	2	0	CDH2	23816910	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.221000	0.72209	0.533000	0.62120	GAC		PASS	0.323	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3	NM_001792		9	350	9	350	---	---	---	---
DSC3	1825	broad.mit.edu	37	18	28612202	28612202	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr18:28612202A>T	ENST00000360428.4	-	2	190	c.110T>A	c.(109-111)cTt>cAt	p.L37H	DSC3_ENST00000434452.1_Missense_Mutation_p.L37H	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	37					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|protein stabilization (GO:0050821)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)	p.L37H(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			AGGTACATTAAGTATCACCTT	0.308																																						uc002kwj.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(109-111)CTT>CAT		desmocollin 3 isoform Dsc3a preproprotein							87.0	84.0	85.0					18																	28612202		2202	4300	6502	SO:0001583	missense	1825				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	g.chr18:28612202A>T	X83929	CCDS32810.1	18q12.1	2014-07-30			ENSG00000134762	ENSG00000134762		"""Cadherins / Major cadherins"""	3037	protein-coding gene	gene with protein product		600271		DSC4		7774948, 8486729	Standard	NM_001941		Approved	CDHF3, DSC, DSC1, DSC2	uc002kwj.4	Q14574	OTTHUMG00000179622	ENST00000360428.4:c.110T>A	18.37:g.28612202A>T	ENSP00000353608:p.Leu37His					DSC3_uc002kwi.3_Missense_Mutation_p.L37H	p.L37H	NM_001941	NP_001932	Q14574	DSC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.125)		2	265	-			37					A6NN35|Q14200|Q9HAZ9	Missense_Mutation	SNP	ENST00000360428.4	37	c.110T>A	CCDS32810.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.879916	0.72294	.	.	ENSG00000134762	ENST00000360428;ENST00000434452	T;T	0.44083	0.93;0.93	5.35	5.35	0.76521	Cadherin prodomain-like (1);Cadherin-like (1);	.	.	.	.	T	0.61098	0.2320	L	0.60067	1.865	0.26846	N	0.968275	D;D	0.89917	0.998;1.0	D;D	0.73708	0.981;0.979	T	0.56306	-0.8001	9	0.87932	D	0	.	14.4501	0.67379	1.0:0.0:0.0:0.0	.	37;37	Q14574;Q14574-2	DSC3_HUMAN;.	H	37	ENSP00000353608:L37H;ENSP00000392068:L37H	ENSP00000353608:L37H	L	-	2	0	DSC3	26866200	0.264000	0.24093	0.427000	0.26684	0.937000	0.57800	5.717000	0.68446	2.243000	0.73865	0.533000	0.62120	CTT		PASS	0.308	DSC3-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447384.1	NM_001941, NM_024423		6	310	6	310	---	---	---	---
DSG4	147409	broad.mit.edu	37	18	28966736	28966736	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr18:28966736C>A	ENST00000308128.4	+	3	305	c.170C>A	c.(169-171)gCc>gAc	p.A57D	DSG4_ENST00000359747.4_Missense_Mutation_p.A57D|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	57	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A57D(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTGCCGCAGCCTGTCGAGAA	0.448																																						uc002kwq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(3)	8						c.(169-171)GCC>GAC		desmoglein 4 isoform 2 preproprotein							108.0	100.0	103.0					18																	28966736		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28966736C>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.170C>A	18.37:g.28966736C>A	ENSP00000311859:p.Ala57Asp					DSG4_uc002kwr.2_Missense_Mutation_p.A57D	p.A57D	NM_177986	NP_817123	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		3	305	+			57			Cadherin 1.|Extracellular (Potential).		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.170C>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313616	0.81358	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.52057	0.68;0.68	5.22	5.22	0.72569	Cadherin (1);	0.000000	0.34603	N	0.003833	T	0.64148	0.2572	L	0.49350	1.555	0.44937	D	0.997952	D;D	0.89917	1.0;0.984	D;D	0.97110	1.0;0.937	T	0.63373	-0.6652	10	0.49607	T	0.09	.	17.3107	0.87208	0.0:1.0:0.0:0.0	.	57;57	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	D	57	ENSP00000311859:A57D;ENSP00000352785:A57D	ENSP00000311859:A57D	A	+	2	0	DSG4	27220734	0.965000	0.33210	0.997000	0.53966	0.965000	0.64279	2.609000	0.46317	2.589000	0.87451	0.650000	0.86243	GCC		PASS	0.448	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		53	314	53	314	---	---	---	---
CCDC178	374864	broad.mit.edu	37	18	30926304	30926304	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr18:30926304G>C	ENST00000383096.3	-	9	711	c.529C>G	c.(529-531)Cta>Gta	p.L177V	CCDC178_ENST00000579947.1_Missense_Mutation_p.L177V|CCDC178_ENST00000583930.1_Missense_Mutation_p.L177V|CCDC178_ENST00000300227.8_Missense_Mutation_p.L177V|CCDC178_ENST00000406524.2_Missense_Mutation_p.L177V|CCDC178_ENST00000403303.1_Missense_Mutation_p.L177V|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000402325.1_Missense_Mutation_p.L177V			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	177								p.L177V(2)									TCAGTTTCTAGACTTTTAATG	0.363																																						uc002kxn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(529-531)CTA>GTA		hypothetical protein LOC374864 isoform 1							100.0	95.0	97.0					18																	30926304		2203	4300	6503	SO:0001583	missense	374864							g.chr18:30926304G>C	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.529C>G	18.37:g.30926304G>C	ENSP00000372576:p.Leu177Val					C18orf34_uc010xbr.1_Missense_Mutation_p.L177V|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.L177V|C18orf34_uc002kxp.2_Missense_Mutation_p.L177V	p.L177V	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN			8	671	-			177			Potential.		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	ENST00000383096.3	37	c.529C>G	CCDS42424.1	.	.	.	.	.	.	.	.	.	.	G	9.753	1.167997	0.21621	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325;ENST00000399177	T;T;T;T;T;T	0.73789	0.4;0.4;0.42;0.44;0.41;-0.78	5.59	5.59	0.84812	.	.	.	.	.	D	0.82655	0.5084	L	0.57536	1.79	0.28684	N	0.90495	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.76567	-0.2912	9	0.56958	D	0.05	-9.8762	10.5887	0.45298	0.0878:0.0:0.9122:0.0	.	177;177;177;177	F8W7A7;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;CR034_HUMAN	V	177	ENSP00000385591:L177V;ENSP00000372576:L177V;ENSP00000300227:L177V;ENSP00000385867:L177V;ENSP00000385234:L177V;ENSP00000382130:L177V	ENSP00000300227:L177V	L	-	1	2	C18orf34	29180302	1.000000	0.71417	0.998000	0.56505	0.723000	0.41478	2.493000	0.45320	2.636000	0.89361	0.557000	0.71058	CTA		PASS	0.363	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		22	331	22	331	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74592249	74592249	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr18:74592249G>T	ENST00000253159.8	+	8	1357	c.1159G>T	c.(1159-1161)Ggc>Tgc	p.G387C	ZNF236_ENST00000320610.9_Missense_Mutation_p.G389C	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	387					cellular response to glucose stimulus (GO:0071333)|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.G387C(2)		NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CATCACAGTGGGCATCAACCA	0.597																																						uc002lmi.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(1159-1161)GGC>TGC		zinc finger protein 236							18.0	22.0	21.0					18																	74592249		2120	4235	6355	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74592249G>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1159G>T	18.37:g.74592249G>T	ENSP00000253159:p.Gly387Cys					ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Missense_Mutation_p.G387C	p.G387C	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	8	1357	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	387					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.1159G>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385425	0.82792	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11063	2.81;2.94	5.36	5.36	0.76844	.	0.064952	0.64402	D	0.000007	T	0.33206	0.0855	M	0.65975	2.015	0.47778	D	0.999519	D;D	0.89917	1.0;1.0	D;D	0.71184	0.972;0.956	T	0.01951	-1.1241	10	0.59425	D	0.04	.	19.0977	0.93260	0.0:0.0:1.0:0.0	.	387;387	Q9NWI2;Q9UL36	.;ZN236_HUMAN	C	387	ENSP00000253159:G387C;ENSP00000444524:G387C	ENSP00000253159:G387C	G	+	1	0	ZNF236	72721237	1.000000	0.71417	0.996000	0.52242	0.914000	0.54420	9.183000	0.94887	2.505000	0.84491	0.557000	0.71058	GGC		PASS	0.597	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			13	19	13	19	---	---	---	---
ZFR2	23217	broad.mit.edu	37	19	3823291	3823291	+	Missense_Mutation	SNP	C	C	G	rs185400185		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:3823291C>G	ENST00000262961.4	-	8	1334	c.1324G>C	c.(1324-1326)Gcg>Ccg	p.A442P		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	442							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A442P(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GAGCAGCCCGCGGGAGCTTCC	0.632																																						uc002lyw.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(1324-1326)GCG>CCG		zinc finger RNA binding protein 2 isoform 1							85.0	90.0	89.0					19																	3823291		1864	4096	5960	SO:0001583	missense	23217					intracellular	nucleic acid binding|zinc ion binding	g.chr19:3823291C>G	AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1324G>C	19.37:g.3823291C>G	ENSP00000262961:p.Ala442Pro					ZFR2_uc010xhx.1_RNA	p.A442P	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)	8	1336	-			442						Missense_Mutation	SNP	ENST00000262961.4	37	c.1324G>C	CCDS45921.1	.	.	.	.	.	.	.	.	.	.	C	7.846	0.723010	0.15439	.	.	ENSG00000105278	ENST00000262961	T	0.07216	3.21	3.4	-1.45	0.08828	.	0.619463	0.14691	U	0.304154	T	0.05410	0.0143	L	0.32530	0.975	0.09310	N	1	B	0.19331	0.035	B	0.24006	0.05	T	0.42783	-0.9431	10	0.20519	T	0.43	-1.0008	5.6453	0.17586	0.0:0.6091:0.1709:0.22	.	442	Q9UPR6	ZFR2_HUMAN	P	442	ENSP00000262961:A442P	ENSP00000262961:A442P	A	-	1	0	ZFR2	3774291	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.331000	0.07914	-0.393000	0.07739	-2.178000	0.00318	GCG		PASS	0.632	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453648.2	NM_015174		7	164	7	164	---	---	---	---
HNRNPM	4670	broad.mit.edu	37	19	8550724	8550724	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:8550724G>C	ENST00000325495.4	+	14	1453	c.1412G>C	c.(1411-1413)cGc>cCc	p.R471P	HNRNPM_ENST00000348943.3_Missense_Mutation_p.R432P	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	471	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)	p.R471P(1)		endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGCATTGAGCGCATGGGCCAG	0.687																																						uc010dwe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1411-1413)CGC>CCC		heterogeneous nuclear ribonucleoprotein M							55.0	58.0	57.0					19																	8550724		2203	4298	6501	SO:0001583	missense	4670				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding	g.chr19:8550724G>C	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.1412G>C	19.37:g.8550724G>C	ENSP00000325376:p.Arg471Pro					HNRNPM_uc010xke.1_Missense_Mutation_p.R417P|HNRNPM_uc010dwd.2_Missense_Mutation_p.R432P|HNRNPM_uc002mka.2_Missense_Mutation_p.R336P|HNRNPM_uc002mkb.1_5'Flank	p.R471P	NM_005968	NP_005959	P52272	HNRPM_HUMAN			14	1492	+			471			10.|27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].		Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Missense_Mutation	SNP	ENST00000325495.4	37	c.1412G>C	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079686	0.55753	.	.	ENSG00000099783	ENST00000325495;ENST00000348943;ENST00000544159;ENST00000539473	T;T	0.26373	1.74;2.07	5.63	5.63	0.86233	.	0.092655	0.64402	D	0.000002	T	0.36853	0.0982	M	0.71036	2.16	0.80722	D	1	P;B;P;P	0.48503	0.911;0.234;0.873;0.911	B;B;B;B	0.44163	0.339;0.039;0.443;0.322	T	0.30880	-0.9963	10	0.72032	D	0.01	.	18.2533	0.90011	0.0:0.0:1.0:0.0	.	311;471;432;356	Q7KYM9;P52272;P52272-2;Q59ES8	.;HNRPM_HUMAN;.;.	P	471;432;356;28	ENSP00000325376:R471P;ENSP00000325732:R432P	ENSP00000325376:R471P	R	+	2	0	HNRNPM	8456724	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.418000	0.80167	2.644000	0.89710	0.591000	0.81541	CGC		PASS	0.687	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1			23	69	23	69	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9058345	9058345	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:9058345C>A	ENST00000397910.4	-	3	29304	c.29101G>T	c.(29101-29103)Gag>Tag	p.E9701*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9703	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.E9701*(1)|p.E5334*(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGGTCATCTCTGAGTGTGAA	0.478																																						uc002mkp.2																			2	Substitution - Nonsense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(29101-29103)GAG>TAG		mucin 16							95.0	88.0	90.0					19																	9058345		1917	4137	6054	SO:0001587	stop_gained	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058345C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29101G>T	19.37:g.9058345C>A	ENSP00000381008:p.Glu9701*						p.E9701*	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	29305	-			9703			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	ENST00000397910.4	37	c.29101G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	60	45.244968	0.99986	.	.	ENSG00000181143	ENST00000397910	.	.	.	3.13	-0.801	0.10893	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.285	0.21029	0.1961:0.4201:0.3838:0.0	.	.	.	.	X	9701	.	ENSP00000381008:E9701X	E	-	1	0	MUC16	8919345	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.532000	0.06164	-0.029000	0.13827	0.585000	0.79938	GAG		PASS	0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		12	56	12	56	---	---	---	---
OR7E24	26648	broad.mit.edu	37	19	9362505	9362505	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:9362505C>A	ENST00000456448.1	+	1	900	c.786C>A	c.(784-786)caC>caA	p.H262Q		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H262Q(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GTGGCTCTCACCTGGCAGTTG	0.458																																						uc002mlb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(784-786)CAC>CAA		olfactory receptor, family 7, subfamily E,							41.0	43.0	42.0					19																	9362505		2106	4254	6360	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362505C>A	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.786C>A	19.37:g.9362505C>A	ENSP00000387523:p.His262Gln						p.H262Q	NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN			1	786	+			262			Helical; Name=6; (Potential).		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.786C>A	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	19.34	3.808228	0.70797	.	.	ENSG00000237521	ENST00000456448	T	0.00307	8.17	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00815	0.0027	H	0.98466	4.24	0.40996	D	0.984893	P	0.44044	0.825	P	0.51079	0.658	T	0.35301	-0.9794	9	0.87932	D	0	.	11.2896	0.49241	0.0:1.0:0.0:0.0	.	262	Q6IFN5	O7E24_HUMAN	Q	262	ENSP00000387523:H262Q	ENSP00000387523:H262Q	H	+	3	2	OR7E24	9223505	0.889000	0.30405	0.897000	0.35233	0.220000	0.24768	0.557000	0.23454	1.241000	0.43820	0.436000	0.28706	CAC		PASS	0.458	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			11	28	11	28	---	---	---	---
FBXW9	84261	broad.mit.edu	37	19	12800594	12800595	+	Missense_Mutation	DNP	CC	CC	AA	rs62108390|rs147127517	byFrequency	TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:12800594_12800595CC>AA	ENST00000380339.3	-	7	1252_1253	c.1216_1217GG>TT	c.(1216-1218)GGc>TTc	p.G406F	FBXW9_ENST00000544494.1_Missense_Mutation_p.G114F|FBXW9_ENST00000393261.3_Missense_Mutation_p.G376F|CTD-2659N19.2_ENST00000585742.1_RNA|FBXW9_ENST00000587955.1_Missense_Mutation_p.G396F|CTD-2192J16.26_ENST00000593554.1_lincRNA			Q5XUX1	FBXW9_HUMAN	F-box and WD repeat domain containing 9	406					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)			p.A61S(2)|p.G376V(1)|p.T60T(1)|p.G376F(1)|p.G376C(1)		cervix(1)|lung(4)|ovary(1)|prostate(1)	7						CTGGAAGCAGCCGTTGCGGTTG	0.658																																						uc010dyx.2																			6	Substitution - Missense(5)|Substitution - coding silent(1)		lung(6)	ovary(1)	1						c.(1186-1188)GGC>GTC|c.(1186-1188)GGC>TGC		F-box and WD-40 domain protein 9																																				SO:0001583	missense	84261						protein binding	g.chr19:12800594C>A|g.chr19:12800595C>A	BC004290	CCDS12278.2	19p13.2	2013-01-09	2007-02-08		ENSG00000132004	ENSG00000132004		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	28136	protein-coding gene	gene with protein product		609074	"""F-box and WD-40 domain protein 9"""			12477932	Standard	NM_032301		Approved	MGC10870, Fbw9	uc002mum.1	Q5XUX1	OTTHUMG00000150152	ENST00000380339.3:c.1216_1217delinsAA	19.37:g.12800594_12800595delinsAA	ENSP00000369696:p.Gly406Phe					FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Missense_Mutation_p.G376V|FBXW9_uc002mun.1_Missense_Mutation_p.G213V|FBXW9_uc010xmp.1_RNA|uc002mul.1_3'UTR|FBXW9_uc002mum.1_Missense_Mutation_p.G376C|FBXW9_uc002mun.1_Missense_Mutation_p.G213C	p.G396V|p.G396C	NM_032301	NP_115677	Q5XUX1	FBXW9_HUMAN			7	1187|1186	-			406			WD 5.		B3KVP7|Q9BT89	Missense_Mutation	SNP	ENST00000380339.3	37	c.1187G>T|c.1186G>T																																																																																					PASS	0.658	FBXW9-201	KNOWN	basic	protein_coding	protein_coding		NM_032301		23	66|64	23	64	---	---	---	---
CC2D1A	54862	broad.mit.edu	37	19	14023230	14023230	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:14023230G>C	ENST00000318003.7	+	3	532	c.291G>C	c.(289-291)ttG>ttC	p.L97F	CC2D1A_ENST00000589606.1_Missense_Mutation_p.L97F	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	97					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	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)|signal transducer activity (GO:0004871)	p.L97F(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGACGACTTGGAGGCTGATG	0.627																																						uc002mxo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)TTG>TTC		coiled-coil and C2 domain containing 1A							69.0	80.0	76.0					19																	14023230		2157	4253	6410	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14023230G>C	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.291G>C	19.37:g.14023230G>C	ENSP00000313601:p.Leu97Phe					CC2D1A_uc002mxn.2_Intron|CC2D1A_uc002mxp.2_Missense_Mutation_p.L97F|CC2D1A_uc010dzh.2_5'Flank	p.L97F	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		3	590	+			97					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.291G>C	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	9.832	1.188673	0.21954	.	.	ENSG00000132024	ENST00000318003;ENST00000389233	T	0.27402	1.67	4.58	2.43	0.29744	.	0.683460	0.13451	N	0.386887	T	0.27663	0.0680	L	0.50333	1.59	0.52099	D	0.999949	P;B	0.41188	0.741;0.437	B;B	0.39258	0.295;0.117	T	0.02646	-1.1129	10	0.35671	T	0.21	-13.4682	10.2437	0.43328	0.1683:0.0:0.8317:0.0	.	97;97	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	F	97;72	ENSP00000313601:L97F	ENSP00000313601:L97F	L	+	3	2	CC2D1A	13884230	1.000000	0.71417	0.988000	0.46212	0.019000	0.09904	1.522000	0.35921	0.494000	0.27859	-0.143000	0.13931	TTG		PASS	0.627	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		9	23	9	23	---	---	---	---
AD000091.2	0	broad.mit.edu	37	19	15726522	15726522	+	lincRNA	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:15726522C>T	ENST00000589196.2	-	0	0				CYP4F8_ENST00000441682.2_RNA														p.A32V(1)									TGGCTCCTGGCCCGCATCCTG	0.672																																						uc002nbi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(94-96)GCC>GTC		cytochrome P450, family 4, subfamily F,							40.0	46.0	44.0					19																	15726522		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15726522C>T																													19.37:g.15726522C>T						CYP4F8_uc010xoi.1_Missense_Mutation_p.A32V|CYP4F8_uc010xoj.1_5'UTR	p.A32V	NM_007253	NP_009184	P98187	CP4F8_HUMAN			2	159	+			32			Helical; (Potential).			Missense_Mutation	SNP	ENST00000589196.2	37	c.95C>T		.	.	.	.	.	.	.	.	.	.	c	9.870	1.198814	0.22121	.	.	ENSG00000186526	ENST00000441682	.	.	.	2.32	0.0283	0.14158	.	0.646769	0.13490	U	0.384027	T	0.16854	0.0405	.	.	.	.	.	.	B;B	0.33637	0.42;0.019	B;B	0.30782	0.12;0.033	T	0.26087	-1.0113	7	0.17832	T	0.49	.	4.5887	0.12295	0.0:0.6559:0.0:0.3441	.	32;32	B4DU32;P98187	.;CP4F8_HUMAN	V	32	.	ENSP00000409702:A32V	A	+	2	0	CYP4F8	15587522	0.002000	0.14202	0.016000	0.15963	0.006000	0.05464	0.395000	0.20850	0.074000	0.16767	0.313000	0.20887	GCC		PASS	0.672	AD000091.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000460896.2			24	43	24	43	---	---	---	---
NR2F6	2063	broad.mit.edu	37	19	17355849	17355849	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:17355849C>G	ENST00000291442.3	-	1	900	c.181G>C	c.(181-183)Gac>Cac	p.D61H	AC010646.3_ENST00000594059.1_Intron	NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	61					detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.D61H(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						CTCGACTTGTCCCCGCACACC	0.692																																						uc002nfq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(181-183)GAC>CAC		nuclear receptor subfamily 2, group F, member 6							26.0	22.0	24.0					19																	17355849		2195	4293	6488	SO:0001583	missense	2063				negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding	g.chr19:17355849C>G	X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"""Nuclear hormone receptors"""	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.181G>C	19.37:g.17355849C>G	ENSP00000291442:p.Asp61His						p.D61H	NM_005234	NP_005225	P10588	NR2F6_HUMAN			1	303	-			61			Nuclear receptor.|NR C4-type.		B2RC68|Q5XGA0|Q6P586|Q9BUE8	Missense_Mutation	SNP	ENST00000291442.3	37	c.181G>C	CCDS12352.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420955	0.83559	.	.	ENSG00000160113	ENST00000291442;ENST00000536940	D	0.98455	-4.94	2.83	2.83	0.33086	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.248060	0.38548	N	0.001655	D	0.99115	0.9695	H	0.95504	3.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98829	1.0750	10	0.87932	D	0	.	11.4929	0.50391	0.0:1.0:0.0:0.0	.	61	P10588	NR2F6_HUMAN	H	61;34	ENSP00000291442:D61H	ENSP00000291442:D61H	D	-	1	0	NR2F6	17216849	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.419000	0.80179	1.589000	0.49982	0.298000	0.19748	GAC		PASS	0.692	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			4	12	4	12	---	---	---	---
ANKLE1	126549	broad.mit.edu	37	19	17396327	17396327	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:17396327C>A	ENST00000394458.3	+	7	1740	c.1464C>A	c.(1462-1464)ggC>ggA	p.G488G	ANKLE1_ENST00000404085.1_Silent_p.G484G|ANKLE1_ENST00000594072.1_Silent_p.G451G|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Silent_p.G462G	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	488	GIY-YIG. {ECO:0000255|PROSITE- ProRule:PRU00977}.							p.G488G(1)|p.G448G(1)		large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCTACGTGGGCAAAGGGACGA	0.612																																						uc002nga.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1462-1464)GGC>GGA		ankyrin repeat domain 41							101.0	110.0	107.0					19																	17396327		2203	4300	6503	SO:0001819	synonymous_variant	126549					nuclear envelope		g.chr19:17396327C>A	AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.1464C>A	19.37:g.17396327C>A						ANKLE1_uc010xpm.1_RNA|ANKLE1_uc010eao.1_Silent_p.G484G|ANKLE1_uc010xpn.1_Silent_p.G516G|ANKLE1_uc002nfy.2_Silent_p.G451G|ANKLE1_uc002nfz.2_Silent_p.G194G	p.G488G	NM_152363	NP_689576	Q8NAG6	ANKL1_HUMAN			7	1740	+			488					A8VU82|Q8N8J8	Silent	SNP	ENST00000394458.3	37	c.1464C>A	CCDS12354.2																																																																																				PASS	0.612	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325392.2	NM_152363		40	175	40	175	---	---	---	---
UNC13A	23025	broad.mit.edu	37	19	17756582	17756582	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:17756582C>A	ENST00000519716.2	-	19	2256	c.2257G>T	c.(2257-2259)Gtg>Ttg	p.V753L	UNC13A_ENST00000428389.2_Missense_Mutation_p.V841L|UNC13A_ENST00000552293.1_Missense_Mutation_p.V753L|UNC13A_ENST00000551649.1_Missense_Mutation_p.V753L|UNC13A_ENST00000252773.7_Missense_Mutation_p.V753L|UNC13A_ENST00000550896.1_Missense_Mutation_p.V751L	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	753	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.V841L(1)|p.V753L(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CTCTGTTTCACGCGGGATTTG	0.587																																						uc002nhd.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(2521-2523)GTG>TTG		unc-13 homolog A							75.0	79.0	77.0					19																	17756582		2129	4248	6377	SO:0001583	missense	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17756582C>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.2257G>T	19.37:g.17756582C>A	ENSP00000429562:p.Val753Leu						p.V841L	NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN			19	2521	-			753			C2 2.		E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	37	c.2521G>T	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409439	0.42715	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.80738	-1.4;-1.41;-1.4;-1.28;-1.27;-1.39	3.88	3.88	0.44766	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	U	0.000002	T	0.60689	0.2288	N	0.05124	-0.11	0.48901	D	0.999723	B	0.14012	0.009	B	0.25759	0.063	T	0.56141	-0.8028	10	0.07813	T	0.8	-21.1355	13.6855	0.62513	0.0:1.0:0.0:0.0	.	753	Q9UPW8	UN13A_HUMAN	L	753;841;753;753;753;751	ENSP00000429562:V753L;ENSP00000400409:V841L;ENSP00000252773:V753L;ENSP00000447236:V753L;ENSP00000447572:V753L;ENSP00000446831:V751L	ENSP00000252773:V753L	V	-	1	0	UNC13A	17617582	1.000000	0.71417	0.945000	0.38365	0.879000	0.50718	7.538000	0.82048	1.869000	0.54173	0.313000	0.20887	GTG		PASS	0.587	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604		10	20	10	20	---	---	---	---
CERS1	10715	broad.mit.edu	37	19	18989838	18989838	+	Missense_Mutation	SNP	G	G	T	rs373927986		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:18989838G>T	ENST00000427170.2	-	6	982	c.911C>A	c.(910-912)gCg>gAg	p.A304E	AC005197.2_ENST00000597769.1_RNA|CERS1_ENST00000429504.2_Missense_Mutation_p.A304E|CERS1_ENST00000542296.2_Missense_Mutation_p.A206E|GDF1_ENST00000247005.6_5'UTR	NM_001492.4|NM_021267.3	NP_001483.3|NP_067090.1	P27544	CERS1_HUMAN	ceramide synthase 1	304	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular response to dithiothreitol (GO:0072721)|cellular response to drug (GO:0035690)|cellular response to mycotoxin (GO:0036146)|cellular response to UV-A (GO:0071492)|ceramide biosynthetic process (GO:0046513)|negative regulation of telomerase activity (GO:0051974)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	sphingosine N-acyltransferase activity (GO:0050291)	p.A304E(2)		endometrium(3)|lung(2)	5						GGCTGCAAACGCCACGATGTA	0.642																																						uc002nki.1																			2	Substitution - Missense(2)		lung(2)		0						c.(910-912)GCG>GAG		LAG1 homolog, ceramide synthase 1 isoform 1							41.0	46.0	44.0					19																	18989838		2164	4256	6420	SO:0001583	missense	2657				growth	extracellular space	cytokine activity|growth factor activity	g.chr19:18989838G>T	AF105005	CCDS46021.1	19p12	2011-07-08	2011-07-08	2011-07-08		ENSG00000223802			14253	protein-coding gene	gene with protein product		606919	"""longevity assurance (LAG1, S. cerevisiae) homolog 1"", ""LAG1 longevity assurance homolog 1 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 1"""	LASS1		9872981, 2034669	Standard	NM_198207		Approved	LAG1, UOG1	uc002nkj.3	P27544		ENST00000427170.2:c.911C>A	19.37:g.18989838G>T	ENSP00000402697:p.Ala304Glu					LASS1_uc002nkj.2_Missense_Mutation_p.A304E|LASS1_uc010ebx.2_Missense_Mutation_p.A206E	p.A304E	NM_021267	NP_067090	P27539	GDF1_HUMAN			6	983	-			Error:Variant_position_missing_in_P27539_after_alignment						Missense_Mutation	SNP	ENST00000427170.2	37	c.911C>A	CCDS46020.1	.	.	.	.	.	.	.	.	.	.	G	5.928	0.355187	0.11239	.	.	ENSG00000223802	ENST00000427170;ENST00000429504;ENST00000542296	T;T;T	0.40476	2.02;1.6;1.03	3.59	1.1	0.20463	TRAM/LAG1/CLN8 homology domain (2);	.	.	.	.	T	0.21468	0.0517	N	0.12569	0.235	0.80722	D	1	B	0.34399	0.452	B	0.35727	0.209	T	0.04413	-1.0953	9	0.44086	T	0.13	.	4.361	0.11203	0.5457:0.0:0.4543:0.0	.	304	P27544	CERS1_HUMAN	E	304;304;206	ENSP00000402697:A304E;ENSP00000389044:A304E;ENSP00000437648:A206E	ENSP00000402697:A304E	A	-	2	0	CERS1	18850838	0.509000	0.26163	0.783000	0.31826	0.291000	0.27294	1.415000	0.34748	0.503000	0.28060	-0.424000	0.05967	GCG		PASS	0.642	CERS1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				20	22	20	22	---	---	---	---
HAPLN4	404037	broad.mit.edu	37	19	19369365	19369365	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:19369365A>G	ENST00000291481.7	-	4	847	c.784T>C	c.(784-786)Tac>Cac	p.Y262H	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	262	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)	p.Y262H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	AAGGCGTCGTAGCGTTCCTCG	0.692																																						uc002nmb.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(784-786)TAC>CAC		hyaluronan and proteoglycan link protein 4							74.0	60.0	64.0					19																	19369365		2203	4300	6503	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19369365A>G	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.784T>C	19.37:g.19369365A>G	ENSP00000291481:p.Tyr262His					HAPLN4_uc002nmc.2_Missense_Mutation_p.Y262H	p.Y262H	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		4	839	-			262			Link 1.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.784T>C	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214109	0.79352	.	.	ENSG00000187664	ENST00000291481	T	0.13901	2.55	3.97	3.97	0.46021	C-type lectin fold (1);Link (3);C-type lectin-like (1);	0.000000	0.64402	D	0.000002	T	0.38295	0.1035	M	0.82923	2.615	0.46185	D	0.998913	D	0.89917	1.0	D	0.81914	0.995	T	0.36792	-0.9733	10	0.87932	D	0	-26.0023	11.8138	0.52197	1.0:0.0:0.0:0.0	.	262	Q86UW8	HPLN4_HUMAN	H	262	ENSP00000291481:Y262H	ENSP00000291481:Y262H	Y	-	1	0	HAPLN4	19230365	1.000000	0.71417	0.973000	0.42090	0.884000	0.51177	8.410000	0.90225	1.670000	0.50864	0.260000	0.18958	TAC		PASS	0.692	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		20	41	20	41	---	---	---	---
ZNF536	9745	broad.mit.edu	37	19	30935560	30935560	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:30935560T>A	ENST00000355537.3	+	2	1238	c.1091T>A	c.(1090-1092)aTg>aAg	p.M364K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	364					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.M364K(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGGGTCACATGCGCAAGCAC	0.627																																						uc002nsu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(2)|skin(2)	11						c.(1090-1092)ATG>AAG		zinc finger protein 536							101.0	107.0	105.0					19																	30935560		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935560T>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1091T>A	19.37:g.30935560T>A	ENSP00000347730:p.Met364Lys					ZNF536_uc010edd.1_Missense_Mutation_p.M364K	p.M364K	NM_014717	NP_055532	O15090	ZN536_HUMAN			2	1229	+	Esophageal squamous(110;0.0834)		364			C2H2-type 5.		A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1091T>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	T	13.58	2.280005	0.40294	.	.	ENSG00000198597	ENST00000355537	T	0.54675	0.56	5.41	5.41	0.78517	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.58481	0.2125	N	0.21097	0.63	0.54753	D	0.999985	D;D	0.71674	0.993;0.998	D;D	0.79784	0.955;0.993	T	0.56721	-0.7932	10	0.28530	T	0.3	-26.127	15.4312	0.75102	0.0:0.0:0.0:1.0	.	364;364	A7E228;O15090	.;ZN536_HUMAN	K	364	ENSP00000347730:M364K	ENSP00000347730:M364K	M	+	2	0	ZNF536	35627400	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.110000	0.71535	2.041000	0.60428	0.402000	0.26972	ATG		PASS	0.627	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		58	139	58	139	---	---	---	---
ZNF527	84503	broad.mit.edu	37	19	37879573	37879573	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:37879573G>T	ENST00000436120.2	+	5	729	c.622G>T	c.(622-624)Gaa>Taa	p.E208*	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	208					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.E208*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTCATAATTGAATATAAAAG	0.323																																						uc010efk.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(622-624)GAA>TAA		zinc finger protein 527							49.0	49.0	49.0					19																	37879573		1807	4062	5869	SO:0001587	stop_gained	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37879573G>T	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.622G>T	19.37:g.37879573G>T	ENSP00000390179:p.Glu208*					ZNF527_uc002ogf.3_Nonsense_Mutation_p.E176*|ZNF527_uc010xtq.1_RNA	p.E208*	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	733	+			208					B4DVL5	Nonsense_Mutation	SNP	ENST00000436120.2	37	c.622G>T	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	36	5.733669	0.96865	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.15	0.703	0.18116	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	2.3617	0.04308	0.382:0.0:0.3962:0.2218	.	.	.	.	X	208;176;156	.	ENSP00000325231:E176X	E	+	1	0	ZNF527	42571413	0.000000	0.05858	0.004000	0.12327	0.957000	0.61999	-2.199000	0.01238	0.960000	0.38005	0.563000	0.77884	GAA		PASS	0.323	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		14	102	14	102	---	---	---	---
ITPKC	80271	broad.mit.edu	37	19	41231345	41231345	+	Splice_Site	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:41231345G>T	ENST00000263370.2	+	2	1288		c.e2+1			NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGACATGCTGGTAAGTGGGGT	0.532																																						uc002oot.2																			1	Unknown(1)		lung(1)		0						c.e2+1		inositol 1,4,5-trisphosphate 3-kinase C							110.0	103.0	106.0					19																	41231345		2203	4300	6503	SO:0001630	splice_region_variant	80271					cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	g.chr19:41231345G>T	Y11999	CCDS12563.1	19q13.1	2011-04-28	2011-04-28		ENSG00000086544	ENSG00000086544	2.7.1.127		14897	protein-coding gene	gene with protein product		606476	"""inositol 1,4,5-trisphosphate 3-kinase C"""			11085927	Standard	NM_025194		Approved	IP3KC, IP3-3KC	uc002oot.3	Q96DU7		ENST00000263370.2:c.1255+1G>T	19.37:g.41231345G>T							p.G419_splice	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	1288	+								Q9UE25|Q9Y475	Splice_Site	SNP	ENST00000263370.2	37	c.1255_splice	CCDS12563.1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.813667	0.50527	.	.	ENSG00000086544	ENST00000263370	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0795	0.93177	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITPKC	45923185	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	9.750000	0.98875	2.795000	0.96236	0.655000	0.94253	.		PASS	0.532	ITPKC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463104.1	NM_025194	Intron	55	80	55	80	---	---	---	---
ZNF112	7771	broad.mit.edu	37	19	44832207	44832207	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:44832207G>T	ENST00000337401.4	-	5	2209	c.2121C>A	c.(2119-2121)taC>taA	p.Y707*	ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Y724*|ZNF112_ENST00000354340.4_Nonsense_Mutation_p.Y701*	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	707					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.Y701*(1)|p.Y707*(1)									GACTCTGAAGGTATGATCTCT	0.458																																						uc010ejj.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|skin(2)	5						c.(2119-2121)TAC>TAA		zinc finger protein 228 isoform 1							137.0	115.0	122.0					19																	44832207		2203	4300	6503	SO:0001587	stop_gained	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44832207G>T	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2121C>A	19.37:g.44832207G>T	ENSP00000337081:p.Tyr707*					ZFP112_uc002ozc.3_Nonsense_Mutation_p.Y701*|ZFP112_uc010xwy.1_Nonsense_Mutation_p.Y724*|ZFP112_uc010xwz.1_Nonsense_Mutation_p.Y706*	p.Y707*	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	2234	-			707			C2H2-type 11.		A4FU53|Q9HCA7	Nonsense_Mutation	SNP	ENST00000337401.4	37	c.2121C>A	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	G	37	6.091722	0.97276	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	.	.	.	5.21	1.9	0.25705	.	0.000000	0.31188	N	0.008092	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-10.1396	10.4742	0.44655	0.2334:0.0:0.7666:0.0	.	.	.	.	X	707;707;701;724;706	.	ENSP00000253426:Y706X	Y	-	3	2	ZNF285	49524047	0.000000	0.05858	0.996000	0.52242	0.986000	0.74619	-1.080000	0.03407	0.708000	0.31955	-0.140000	0.14226	TAC		PASS	0.458	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		16	112	16	112	---	---	---	---
GEMIN7	79760	broad.mit.edu	37	19	45593723	45593723	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:45593723G>T	ENST00000270257.4	+	3	598	c.351G>T	c.(349-351)gcG>gcT	p.A117A	PPP1R37_ENST00000421905.1_5'Flank|GEMIN7_ENST00000391951.2_Silent_p.A117A|CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000591607.1_Silent_p.A117A|PPP1R37_ENST00000221462.4_5'Flank|GEMIN7_ENST00000591747.1_Silent_p.A117A	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	117					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.A117A(1)		endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		AAGCAGAGGCGCTGCTCCGAT	0.527																																						uc002pap.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(349-351)GCG>GCT		gemin 7							60.0	61.0	61.0					19																	45593723		2203	4300	6503	SO:0001819	synonymous_variant	79760				ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding	g.chr19:45593723G>T	AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.351G>T	19.37:g.45593723G>T						uc002pas.2_5'Flank|GEMIN7_uc002paq.1_Silent_p.A117A|GEMIN7_uc002par.1_Silent_p.A117A	p.A117A	NM_001007270	NP_001007271	Q9H840	GEMI7_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0131)	3	502	+		Ovarian(192;0.0728)|all_neural(266;0.112)	117					Q6IA34	Silent	SNP	ENST00000270257.4	37	c.351G>T	CCDS12654.1																																																																																				PASS	0.527	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457533.1			24	55	24	55	---	---	---	---
RSPH6A	81492	broad.mit.edu	37	19	46307718	46307718	+	Missense_Mutation	SNP	C	C	G	rs139803225		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:46307718C>G	ENST00000221538.3	-	3	1587	c.1445G>C	c.(1444-1446)cGg>cCg	p.R482P	RSPH6A_ENST00000597055.1_Missense_Mutation_p.R482P|RSPH6A_ENST00000600188.1_Missense_Mutation_p.R218P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	482						intracellular (GO:0005622)		p.R482P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TATCTGGGCCCGCAGGTAGTT	0.622																																						uc002pdm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1444-1446)CGG>CCG		radial spokehead-like 1		C	PRO/ARG	1,4405		0,1,2202	55.0	50.0	52.0		1445	3.8	1.0	19	dbSNP_134	52	0,8600		0,0,4300	no	missense	RSPH6A	NM_030785.3	103	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	482/718	46307718	1,13005	2203	4300	6503	SO:0001583	missense	81492					intracellular		g.chr19:46307718C>G	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1445G>C	19.37:g.46307718C>G	ENSP00000221538:p.Arg482Pro					RSPH6A_uc002pdl.2_Missense_Mutation_p.R218P	p.R482P	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN			3	1588	-			482					Q53FE2|Q6PEZ9	Missense_Mutation	SNP	ENST00000221538.3	37	c.1445G>C	CCDS12675.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802796	0.70682	2.27E-4	0.0	ENSG00000104941	ENST00000221538	T	0.34275	1.37	3.8	3.8	0.43715	.	0.000000	0.85682	D	0.000000	T	0.66346	0.2780	M	0.91818	3.245	0.48236	D	0.999614	D	0.89917	1.0	D	0.97110	1.0	T	0.75249	-0.3384	10	0.87932	D	0	-5.2906	14.008	0.64478	0.0:1.0:0.0:0.0	.	482	Q9H0K4	RSH6A_HUMAN	P	482	ENSP00000221538:R482P	ENSP00000221538:R482P	R	-	2	0	RSPH6A	50999558	1.000000	0.71417	0.988000	0.46212	0.658000	0.38924	7.298000	0.78815	2.428000	0.82296	0.456000	0.33151	CGG		PASS	0.622	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			14	33	14	33	---	---	---	---
SLC1A5	6510	broad.mit.edu	37	19	47285696	47285696	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:47285696G>T	ENST00000542575.2	-	4	1396	c.768C>A	c.(766-768)atC>atA	p.I256I	SLC1A5_ENST00000594991.1_Silent_p.I80I|SLC1A5_ENST00000434726.2_Silent_p.I54I|SLC1A5_ENST00000412532.2_Silent_p.I28I	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	256					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)	p.I256I(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TGAAGAAGCGGATAAGCAGCT	0.602																																						uc002pfs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(766-768)ATC>ATA		solute carrier family 1 member 5 isoform 1	L-Asparagine(DB00174)|L-Glutamine(DB00130)						134.0	120.0	125.0					19																	47285696		2203	4300	6503	SO:0001819	synonymous_variant	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47285696G>T	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.768C>A	19.37:g.47285696G>T						SLC1A5_uc010xyh.1_Silent_p.I54I|SLC1A5_uc002pfq.2_Silent_p.I80I|SLC1A5_uc002pfr.2_Silent_p.I28I	p.I256I	NM_005628	NP_005619	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	4	1388	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	256					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Silent	SNP	ENST00000542575.2	37	c.768C>A	CCDS12692.1																																																																																				PASS	0.602	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			60	118	60	118	---	---	---	---
MYH14	79784	broad.mit.edu	37	19	50785099	50785099	+	Splice_Site	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:50785099G>T	ENST00000596571.1	+	30	4416	c.4416G>T	c.(4414-4416)caG>caT	p.Q1472H	MYH14_ENST00000425460.1_Splice_Site_p.Q1480H|MYH14_ENST00000598205.1_Splice_Site_p.Q1480H|MYH14_ENST00000601313.1_Splice_Site_p.Q1513H|MYH14_ENST00000376970.2_Splice_Site_p.Q1505H|MYH14_ENST00000262269.8_Splice_Site_p.Q1513H|MYH14_ENST00000440075.2_Splice_Site_p.Q1513H			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1472					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.Q1513H(1)		central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGTTTGACCAGGTGGGGCACC	0.617																																						uc002prr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(4414-4416)CAG>CAT		myosin, heavy chain 14 isoform 2							16.0	18.0	17.0					19																	50785099		2092	4167	6259	SO:0001630	splice_region_variant	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50785099G>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.4416+1G>T	19.37:g.50785099G>T						MYH14_uc010enu.1_Missense_Mutation_p.Q1513H|MYH14_uc002prq.1_Missense_Mutation_p.Q1480H|MYH14_uc010ycb.1_Intron|MYH14_uc002prs.1_5'Flank	p.Q1472H	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	31	4463	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	1472			Potential.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.4416G>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326271	0.81580	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000262269	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	3.9	3.9	0.45041	Myosin tail (1);	.	.	.	.	D	0.85561	0.5725	M	0.66439	2.03	0.54753	D	0.999984	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.85624	0.1266	8	.	.	.	.	13.7809	0.63081	0.0:0.0:1.0:0.0	.	1513;1472;1480	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	H	1513;1505;1480;1513	ENSP00000406273:Q1513H;ENSP00000366169:Q1505H;ENSP00000407879:Q1480H;ENSP00000262269:Q1513H	.	Q	+	3	2	MYH14	55476911	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.029000	0.93718	2.195000	0.70347	0.561000	0.74099	CAG		PASS	0.617	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2	NM_024729	Missense_Mutation	6	23	6	23	---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51295012	51295012	+	Missense_Mutation	SNP	C	C	A	rs149222498		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:51295012C>A	ENST00000270593.1	+	4	403	c.403C>A	c.(403-405)Cgc>Agc	p.R135S	ACPT_ENST00000270594.3_Intron|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	135						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)	p.R135S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCCCGAGGCCCGCTGGAGGCC	0.692																																						uc002pta.1																			1	Substitution - Missense(1)		lung(1)		0						c.(403-405)CGC>AGC		testicular acid phosphatase precursor							23.0	25.0	24.0					19																	51295012		2202	4296	6498	SO:0001583	missense	93650					integral to membrane	acid phosphatase activity	g.chr19:51295012C>A	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.403C>A	19.37:g.51295012C>A	ENSP00000270593:p.Arg135Ser						p.R135S	NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	4	403	+		all_neural(266;0.057)	135			Extracellular (Potential).		C0H3P7|Q9BZG3|Q9BZG4	Missense_Mutation	SNP	ENST00000270593.1	37	c.403C>A	CCDS12802.1	.	.	.	.	.	.	.	.	.	.	c	0.012	-1.661761	0.00772	.	.	ENSG00000142513	ENST00000270593	T	0.17370	2.28	4.87	1.26	0.21427	.	1.143670	0.06492	N	0.734814	T	0.05960	0.0155	N	0.02286	-0.61	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.39941	-0.9589	10	0.09338	T	0.73	-8.7906	5.2783	0.15661	0.2138:0.3742:0.412:0.0	.	135	Q9BZG2	PPAT_HUMAN	S	135	ENSP00000270593:R135S	ENSP00000270593:R135S	R	+	1	0	ACPT	55986824	0.000000	0.05858	0.113000	0.21522	0.006000	0.05464	-0.163000	0.09997	0.131000	0.18576	-0.282000	0.10007	CGC		PASS	0.692	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		8	12	8	12	---	---	---	---
ZNF808	388558	broad.mit.edu	37	19	53058070	53058071	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:53058070_53058071GG>TT	ENST00000359798.4	+	5	2081_2082	c.1901_1902GG>TT	c.(1900-1902)tGG>tTT	p.W634F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	634					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.W634C(1)|p.W634F(1)|p.W634L(1)		endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GCTTTCACGTGGAATTCACAGC	0.401																																						uc010epq.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1900-1902)TGG>TTG|c.(1900-1902)TGG>TGT		zinc finger protein 808																																				SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058070G>T|g.chr19:53058071G>T	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	Exception_encountered	19.37:g.53058070_53058071delinsTT	ENSP00000352846:p.Trp634Phe					ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank	p.W634L|p.W634C	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2078|2079	+			634			C2H2-type 15.		Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1901G>T|c.1902G>T	CCDS46167.1																																																																																				PASS	0.401	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		22	51|50	22	50	---	---	---	---
ZNF415	55786	broad.mit.edu	37	19	53612393	53612393	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:53612393C>A	ENST00000500065.4	-	4	1238	c.905G>T	c.(904-906)tGt>tTt	p.C302F	ZNF415_ENST00000440291.1_Missense_Mutation_p.C289F|ZNF415_ENST00000595193.1_3'UTR|ZNF415_ENST00000601493.1_Missense_Mutation_p.C72F|ZNF415_ENST00000597748.1_3'UTR|ZNF415_ENST00000243643.4_Missense_Mutation_p.C302F|ZNF415_ENST00000597503.1_3'UTR|ZNF415_ENST00000594011.1_3'UTR|ZNF415_ENST00000421033.1_Missense_Mutation_p.C314F|ZNF415_ENST00000455735.2_Missense_Mutation_p.C350F|ZNF415_ENST00000448501.1_Missense_Mutation_p.C350F	NM_001136038.2	NP_001129510.2	Q09FC8	ZN415_HUMAN	zinc finger protein 415	350					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C302F(1)		breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		ACACTCATAACATTTGTAAGG	0.403																																						uc002qax.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1048-1050)TGT>TTT		RecName: Full=Zinc finger protein 415;							96.0	87.0	90.0					19																	53612393		2203	4300	6503	SO:0001583	missense	55786				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding	g.chr19:53612393C>A	AK002053	CCDS12860.1, CCDS54313.1	19q13.42	2014-03-18			ENSG00000170954	ENSG00000170954		"""Zinc fingers, C2H2-type"", ""-"""	20636	protein-coding gene	gene with protein product						14702039	Standard	NM_001136038		Approved		uc002qaw.3	Q09FC8	OTTHUMG00000182865	ENST00000500065.4:c.905G>T	19.37:g.53612393C>A	ENSP00000439435:p.Cys302Phe					ZNF415_uc002qat.2_Missense_Mutation_p.C314F|ZNF415_uc002qaw.2_Missense_Mutation_p.C302F|ZNF415_uc010yds.1_Missense_Mutation_p.C302F|ZNF415_uc010ydt.1_Missense_Mutation_p.C302F|ZNF415_uc002qau.2_Missense_Mutation_p.C289F|ZNF415_uc002qav.2_Missense_Mutation_p.C314F|ZNF415_uc002qba.2_Missense_Mutation_p.C72F|ZNF415_uc002qay.2_Missense_Mutation_p.C289F|ZNF415_uc002qaz.2_Missense_Mutation_p.C350F	p.C350F	NR_028343		Q09FC8	ZN415_HUMAN		GBM - Glioblastoma multiforme(134;0.0191)	7	1398	-			350			C2H2-type 4.		F5H287|Q09FC7|Q09FC9|Q09FD0|Q6NSZ2|Q6P3S0|Q9NUR2	Missense_Mutation	SNP	ENST00000500065.4	37	c.1049G>T	CCDS54313.1	.	.	.	.	.	.	.	.	.	.	C	14.82	2.649990	0.47362	.	.	ENSG00000170954	ENST00000243643;ENST00000500065;ENST00000448501;ENST00000421033;ENST00000455735;ENST00000440291	D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	2.78	2.78	0.32641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94182	0.8133	H	0.95294	3.65	0.25525	N	0.987339	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.996;1.0;0.998;0.998;0.996;1.0	D	0.86272	0.1662	9	0.87932	D	0	.	12.717	0.57121	0.0:1.0:0.0:0.0	.	302;350;350;302;289;314	F5H287;B3KTG1;Q09FC8;Q09FC8-5;Q09FC8-4;Q09FC8-2	.;.;ZN415_HUMAN;.;.;.	F	302;302;350;314;350;289	ENSP00000243643:C302F;ENSP00000439435:C302F;ENSP00000396492:C350F;ENSP00000395055:C314F;ENSP00000388787:C350F;ENSP00000414601:C289F	ENSP00000243643:C302F	C	-	2	0	ZNF415	58304205	0.999000	0.42202	0.077000	0.20336	0.071000	0.16799	6.356000	0.73046	1.569000	0.49696	0.491000	0.48974	TGT		PASS	0.403	ZNF415-025	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464043.1	NM_018355		8	76	8	76	---	---	---	---
ZNF813	126017	broad.mit.edu	37	19	53995112	53995112	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:53995112T>G	ENST00000396403.4	+	4	1754	c.1626T>G	c.(1624-1626)caT>caG	p.H542Q	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	542					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.H542Q(1)		large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CACATCATCATAGACTTCATA	0.383																																						uc002qbu.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1624-1626)CAT>CAG		zinc finger protein 813							52.0	55.0	54.0					19																	53995112		2198	4295	6493	SO:0001583	missense	126017				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53995112T>G	AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309	ENST00000396403.4:c.1626T>G	19.37:g.53995112T>G	ENSP00000379684:p.His542Gln					ZNF813_uc010eqq.1_Intron	p.H542Q	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN		GBM - Glioblastoma multiforme(134;0.00619)	4	1754	+			542			C2H2-type 12.			Missense_Mutation	SNP	ENST00000396403.4	37	c.1626T>G	CCDS46172.1	.	.	.	.	.	.	.	.	.	.	t	0.004	-2.374511	0.00207	.	.	ENSG00000198346	ENST00000396403	T	0.16897	2.31	1.32	-2.63	0.06133	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02156	0.0067	N	0.00175	-1.925	0.09310	N	1	B	0.15141	0.012	B	0.22152	0.038	T	0.35624	-0.9781	9	0.02654	T	1	.	0.333	0.00322	0.3262:0.1893:0.2861:0.1983	.	542	Q6ZN06	ZN813_HUMAN	Q	542	ENSP00000379684:H542Q	ENSP00000379684:H542Q	H	+	3	2	ZNF813	58686924	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.127000	0.10547	-0.717000	0.04955	0.166000	0.16787	CAT		PASS	0.383	ZNF813-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350638.1	NM_001004301		4	44	4	44	---	---	---	---
ZNF331	55422	broad.mit.edu	37	19	54080374	54080374	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:54080374A>G	ENST00000253144.9	+	7	1893	c.560A>G	c.(559-561)tAc>tGc	p.Y187C	ZNF331_ENST00000511593.2_Missense_Mutation_p.Y187C|ZNF331_ENST00000411977.2_Missense_Mutation_p.Y187C|ZNF331_ENST00000511154.1_Missense_Mutation_p.Y187C|ZNF331_ENST00000513999.1_Missense_Mutation_p.Y187C|ZNF331_ENST00000449416.1_Missense_Mutation_p.Y187C|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_Missense_Mutation_p.Y187C	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	187					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Y187C(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAGAAGCCCTACGAATGTAAA	0.418			T	?	follicular thyroid adenoma																																	uc002qbx.1				Dom	yes		19	19q13.3-q13.4	55422	T	zinc finger protein 331			E	?		follicular thyroid adenoma		1	Substitution - Missense(1)		lung(1)	skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)	6						c.(559-561)TAC>TGC		zinc finger protein 331							71.0	78.0	75.0					19																	54080374		2203	4300	6503	SO:0001583	missense	55422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:54080374A>G	AF251515	CCDS33102.1	19q13	2013-12-10				ENSG00000130844		"""Zinc fingers, C2H2-type"", ""-"""	15489	protein-coding gene	gene with protein product	"""rearranged in thyroid adenomas"""	606043					Standard	NM_001079906		Approved	RITA, ZNF463, ZNF361	uc021uzh.1	Q9NQX6		ENST00000253144.9:c.560A>G	19.37:g.54080374A>G	ENSP00000253144:p.Tyr187Cys					ZNF331_uc002qby.1_Missense_Mutation_p.Y187C|ZNF331_uc002qbz.1_Missense_Mutation_p.Y187C|ZNF331_uc002qca.1_Missense_Mutation_p.Y187C|ZNF331_uc010eqr.1_Missense_Mutation_p.Y187C|ZNF331_uc002qcb.1_Missense_Mutation_p.Y187C|ZNF331_uc002qcc.1_Missense_Mutation_p.Y187C|ZNF331_uc002qcd.1_Missense_Mutation_p.Y187C	p.Y187C	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN		GBM - Glioblastoma multiforme(134;0.00555)	7	1994	+			187			C2H2-type 3.		Q96GJ4	Missense_Mutation	SNP	ENST00000253144.9	37	c.560A>G	CCDS33102.1	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572606	0.28092	.	.	ENSG00000130844	ENST00000253144;ENST00000511593;ENST00000449416;ENST00000411977;ENST00000511154;ENST00000513999;ENST00000512387	T;T;T;T;T;T;T	0.25414	1.8;1.8;1.8;1.8;1.8;1.8;1.8	3.35	2.26	0.28386	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27933	0.0688	M	0.75150	2.29	0.09310	N	1	B	0.25390	0.125	B	0.24848	0.056	T	0.30794	-0.9966	9	0.72032	D	0.01	.	5.8662	0.18777	0.5679:0.0:0.0:0.4321	.	187	Q9NQX6	ZN331_HUMAN	C	187	ENSP00000253144:Y187C;ENSP00000427439:Y187C;ENSP00000393817:Y187C;ENSP00000393336:Y187C;ENSP00000421014:Y187C;ENSP00000423156:Y187C;ENSP00000421728:Y187C	ENSP00000253144:Y187C	Y	+	2	0	ZNF331	58772186	0.000000	0.05858	0.029000	0.17559	0.729000	0.41735	-1.493000	0.02298	0.423000	0.26033	0.460000	0.39030	TAC		PASS	0.418	ZNF331-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371366.1	NM_018555		41	79	41	79	---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54720984	54720984	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:54720984T>C	ENST00000391750.1	-	14	2010	c.1874A>G	c.(1873-1875)tAc>tGc	p.Y625C	LILRA6_ENST00000440558.2_Missense_Mutation_p.Y625C|LILRA6_ENST00000419410.2_Missense_Mutation_p.Y626C|LILRB3_ENST00000245620.9_Missense_Mutation_p.Y626C|LILRB3_ENST00000424807.1_Missense_Mutation_p.Y625C|LILRB3_ENST00000407860.2_Missense_Mutation_p.Y642C|LILRB3_ENST00000469273.1_5'Flank|LILRB3_ENST00000346401.6_Missense_Mutation_p.Y637C|LILRA6_ENST00000270464.5_Missense_Mutation_p.Y626C|LILRA6_ENST00000391735.3_3'UTR			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	625					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.Y625C(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAGTGGCGTAGATGCTGGG	0.627																																						uc002qef.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1873-1875)TAC>TGC		leukocyte immunoglobulin-like receptor,							103.0	96.0	98.0					19																	54720984		2203	4300	6503	SO:0001583	missense	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54720984T>C	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1874A>G	19.37:g.54720984T>C	ENSP00000375630:p.Tyr625Cys					LILRB3_uc002qee.1_Missense_Mutation_p.Y626C|LILRB3_uc002qeh.1_Missense_Mutation_p.Y625C|LILRB3_uc002qeg.1_RNA|LILRB3_uc002qei.1_Missense_Mutation_p.Y625C|LILRA6_uc002qek.1_Missense_Mutation_p.Y626C|LILRB3_uc010erh.1_Missense_Mutation_p.Y642C|LILRB3_uc002qej.1_RNA|LILRA6_uc002qel.1_Missense_Mutation_p.Y625C|LILRA6_uc002qem.1_RNA|LILRB3_uc002qen.1_RNA|LILRB3_uc002qeo.1_Missense_Mutation_p.Y626C|LILRB3_uc002qep.1_Missense_Mutation_p.Y626C|LILRB3_uc002qeq.1_Missense_Mutation_p.Y625C|LILRB3_uc002qer.1_RNA|LILRB3_uc002qes.1_Missense_Mutation_p.Y626C	p.Y625C	NM_006864	NP_006855	O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1985	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		625			ITIM motif 3.|Cytoplasmic (Potential).		C9J1P3|C9JIP1|O15471|Q86U49	Missense_Mutation	SNP	ENST00000391750.1	37	c.1874A>G	CCDS33105.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.224216	0.39300	.	.	ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000391750;ENST00000424807;ENST00000346401;ENST00000245620;ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410	T;T;T;T;T;T;T;T	0.01240	5.13;5.13;5.23;5.17;5.22;5.12;5.13;5.17	3.13	3.13	0.36017	.	.	.	.	.	T	0.06735	0.0172	M	0.76328	2.33	0.24378	N	0.994809	D;D;D;D;P;D;D	0.89917	1.0;1.0;0.999;0.987;0.93;0.957;0.999	D;D;D;P;P;B;D	0.77004	0.935;0.989;0.931;0.469;0.717;0.171;0.981	T	0.11012	-1.0605	9	0.87932	D	0	.	8.1867	0.31343	0.0:0.0:0.0:1.0	.	642;625;626;637;642;625;626	B5MCX0;F8WCY4;D3YTC4;F8W6G6;O75022-2;O75022;O75022-3	.;.;.;.;.;LIRB3_HUMAN;.	C	625;625;637;626;642;625;626;626	ENSP00000375630:Y625C;ENSP00000412771:Y625C;ENSP00000345184:Y637C;ENSP00000245620:Y626C;ENSP00000384274:Y642C;ENSP00000390120:Y625C;ENSP00000270464:Y626C;ENSP00000411227:Y626C	ENSP00000270464:Y626C	Y	-	2	0	LILRB3;LILRA6	59412796	0.120000	0.22244	0.005000	0.12908	0.005000	0.04900	2.763000	0.47605	1.719000	0.51432	0.386000	0.25728	TAC		PASS	0.627	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864		7	59	7	59	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54760404	54760404	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:54760404C>A	ENST00000316219.5	-	3	410	c.303G>T	c.(301-303)gaG>gaT	p.E101D	LILRB5_ENST00000449561.2_Missense_Mutation_p.E101D|LILRB5_ENST00000450632.1_Missense_Mutation_p.E101D|LILRB5_ENST00000345866.6_Missense_Mutation_p.E101D	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	101	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.E101D(2)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGCAGGGGTCTCATAGTAGC	0.627																																						uc002qex.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(301-303)GAG>GAT		leukocyte immunoglobulin-like receptor,							158.0	154.0	155.0					19																	54760404		2203	4300	6503	SO:0001583	missense	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760404C>A	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.303G>T	19.37:g.54760404C>A	ENSP00000320390:p.Glu101Asp					LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.E101D|LILRB5_uc002qey.2_Missense_Mutation_p.E101D|LILRB5_uc002qez.2_Missense_Mutation_p.E101D|LILRB5_uc002qfa.1_Missense_Mutation_p.E91D|LILRB5_uc010yes.1_RNA	p.E101D	NM_006840	NP_006831	O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	3	414	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		101			Ig-like C2-type 1.|Extracellular (Potential).		Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.303G>T	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	C	8.411	0.844215	0.16963	.	.	ENSG00000105609	ENST00000316219;ENST00000450632;ENST00000449561;ENST00000345866	T;T;T;T	0.12465	2.68;2.68;2.68;2.68	3.29	-6.58	0.01836	Immunoglobulin-like fold (1);	6.510720	0.00166	N	0.000000	T	0.08403	0.0209	N	0.16790	0.44	0.09310	N	1	P;B;B;P;B	0.43314	0.584;0.091;0.002;0.803;0.307	B;B;B;B;B	0.43623	0.425;0.095;0.007;0.191;0.326	T	0.22521	-1.0214	10	0.45353	T	0.12	.	2.4838	0.04594	0.1015:0.2738:0.3656:0.2591	.	101;92;101;101;101	C9JMK7;Q8NF80;O75023-2;O75023-3;O75023	.;.;.;.;LIRB5_HUMAN	D	101	ENSP00000320390:E101D;ENSP00000414225:E101D;ENSP00000406478:E101D;ENSP00000263430:E101D	ENSP00000320390:E101D	E	-	3	2	LILRB5	59452216	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.147000	0.01293	-0.854000	0.04131	-2.196000	0.00310	GAG		PASS	0.627	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			78	123	78	123	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55085768	55085768	+	Splice_Site	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:55085768G>T	ENST00000251377.3	+	4	204	c.71G>T	c.(70-72)gGg>gTg	p.G24V	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Splice_Site_p.G24V|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Splice_Site_p.G24V|LILRA2_ENST00000391737.1_Splice_Site_p.G12V			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	24					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.G24V(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TTCCTTCCAGGGCACCTCCCC	0.597																																						uc002qgg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(70-72)GGG>GTG		leukocyte immunoglobulin-like receptor,							84.0	88.0	87.0					19																	55085768		2203	4300	6503	SO:0001630	splice_region_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55085768G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.71-1G>T	19.37:g.55085768G>T						LILRA2_uc010ern.2_Missense_Mutation_p.G24V|LILRA2_uc002qgf.2_Missense_Mutation_p.G24V|LILRA2_uc010yfe.1_Missense_Mutation_p.G24V|LILRA2_uc010yff.1_Missense_Mutation_p.G12V|LILRA2_uc010ero.2_Missense_Mutation_p.G12V|LILRA2_uc010yfg.1_Missense_Mutation_p.G24V	p.G24V	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	3	160	+			24			Extracellular (Potential).		O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.71G>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	7.821	0.717786	0.15372	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.00596	6.93;6.82;6.82;6.76;6.32	2.69	0.509	0.16977	Immunoglobulin-like fold (1);	0.928471	0.08925	N	0.873798	T	0.03827	0.0108	H	0.96460	3.825	0.26300	N	0.977981	D;P;D;P;D	0.76494	0.99;0.824;0.996;0.883;0.999	P;P;D;P;D	0.78314	0.834;0.787;0.973;0.694;0.991	T	0.22730	-1.0208	9	.	.	.	.	4.3784	0.11281	0.3387:0.0:0.6613:0.0	.	24;24;12;24;24	Q99702;E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;.;LIRA2_HUMAN;.	V	24;24;24;24;12	ENSP00000388131:G24V;ENSP00000251377:G24V;ENSP00000375618:G24V;ENSP00000251376:G24V;ENSP00000375617:G12V	.	G	+	2	0	LILRA2	59777580	0.577000	0.26708	0.324000	0.25361	0.006000	0.05464	0.494000	0.22467	0.474000	0.27392	-0.358000	0.07595	GGG		PASS	0.597	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2		Missense_Mutation	17	137	17	137	---	---	---	---
LILRA2	11027	broad.mit.edu	37	19	55086322	55086322	+	Silent	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:55086322A>G	ENST00000251377.3	+	5	610	c.477A>G	c.(475-477)gaA>gaG	p.E159E	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Silent_p.E159E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Silent_p.E159E|LILRA2_ENST00000391737.1_Silent_p.E147E			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	159	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.E159E(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AGGAAGGAGAAGATGAACACC	0.602																																						uc002qgg.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(475-477)GAA>GAG		leukocyte immunoglobulin-like receptor,							188.0	170.0	176.0					19																	55086322		2203	4300	6503	SO:0001819	synonymous_variant	11027				defense response	integral to membrane	antigen binding|receptor activity	g.chr19:55086322A>G	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.477A>G	19.37:g.55086322A>G						LILRA2_uc010ern.2_Silent_p.E159E|LILRA2_uc002qgf.2_Silent_p.E159E|LILRA2_uc010yfe.1_Silent_p.E159E|LILRA2_uc010yff.1_Silent_p.E147E|LILRA2_uc010ero.2_Silent_p.E147E|LILRA2_uc010yfg.1_Silent_p.E159E	p.E159E	NM_001130917	NP_001124389	Q8N149	LIRA2_HUMAN		GBM - Glioblastoma multiforme(193;0.0963)	4	566	+			159			Extracellular (Potential).|Ig-like C2-type 2.		O75020	Silent	SNP	ENST00000251377.3	37	c.477A>G	CCDS46179.1																																																																																				PASS	0.602	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			43	88	43	88	---	---	---	---
EPN1	29924	broad.mit.edu	37	19	56206164	56206164	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:56206164G>T	ENST00000270460.6	+	10	1648	c.1337G>T	c.(1336-1338)gGa>gTa	p.G446V	EPN1_ENST00000411543.2_Missense_Mutation_p.G532V|AC010525.7_ENST00000589698.1_lincRNA|EPN1_ENST00000085079.7_Missense_Mutation_p.G420V|AC010525.4_ENST00000585559.1_RNA|AC010525.6_ENST00000587937.1_lincRNA	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	446	Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.G446V(1)|p.G532V(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GGGGTCAGGGGATCTCTGGCT	0.677																																						uc002qlw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1336-1338)GGA>GTA		epsin 1 isoform b							25.0	37.0	33.0					19																	56206164		2043	4169	6212	SO:0001583	missense	29924				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding	g.chr19:56206164G>T	AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1337G>T	19.37:g.56206164G>T	ENSP00000270460:p.Gly446Val					EPN1_uc002qlv.2_Missense_Mutation_p.G420V|EPN1_uc010etd.2_Missense_Mutation_p.G445V|EPN1_uc002qlx.2_Missense_Mutation_p.G532V	p.G446V	NM_001130072	NP_001123544	Q9Y6I3	EPN1_HUMAN		GBM - Glioblastoma multiforme(193;0.112)	10	1679	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	446			Ala/Gly/Pro-rich.		Q86ST3|Q9HA18	Missense_Mutation	SNP	ENST00000270460.6	37	c.1337G>T	CCDS46199.1	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338544	0.41398	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.16457	2.41;2.38;2.34	4.04	3.0	0.34707	.	0.411869	0.25744	N	0.028590	T	0.08935	0.0221	N	0.08118	0	0.80722	D	1	B;B;B;B	0.33318	0.062;0.408;0.062;0.102	B;B;B;B	0.31751	0.01;0.135;0.01;0.022	T	0.26608	-1.0098	10	0.49607	T	0.09	-13.228	11.5924	0.50953	0.0919:0.0:0.9081:0.0	.	406;532;446;420	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	V	446;420;406;532	ENSP00000270460:G446V;ENSP00000085079:G420V;ENSP00000406209:G532V	ENSP00000085079:G420V	G	+	2	0	EPN1	60897976	0.999000	0.42202	0.998000	0.56505	0.863000	0.49368	2.529000	0.45632	1.290000	0.44636	-0.258000	0.10820	GGA		PASS	0.677	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453610.1	NM_013333		4	9	4	9	---	---	---	---
ZNF470	388566	broad.mit.edu	37	19	57089731	57089731	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:57089731G>C	ENST00000330619.8	+	6	2620	c.1934G>C	c.(1933-1935)gGa>gCa	p.G645A	ZNF470_ENST00000391709.3_Missense_Mutation_p.G645A|ZNF470_ENST00000601902.1_Intron	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	645					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.G645A(1)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATTCATACAGGAGAGAAACCT	0.418																																						uc002qnl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1933-1935)GGA>GCA		zinc finger protein 470							78.0	76.0	76.0					19																	57089731		2203	4300	6503	SO:0001583	missense	388566				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57089731G>C	AK129686	CCDS33122.1	19q13.43	2013-01-08				ENSG00000197016		"""Zinc fingers, C2H2-type"", ""-"""	22220	protein-coding gene	gene with protein product						15302581	Standard	NM_001001668		Approved	CZF-1, FLJ26175	uc002qnl.4	Q6ECI4		ENST00000330619.8:c.1934G>C	19.37:g.57089731G>C	ENSP00000333223:p.Gly645Ala					ZNF470_uc010etn.2_Intron	p.G645A	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN		GBM - Glioblastoma multiforme(193;0.0294)	6	2610	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	645					A8MTW0|B9EGU1|Q6ZPA1|Q9Y2N9	Missense_Mutation	SNP	ENST00000330619.8	37	c.1934G>C	CCDS33122.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.201982	0.58234	.	.	ENSG00000197016	ENST00000391709;ENST00000330619	T;T	0.26373	1.74;1.74	3.92	2.85	0.33270	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28928	0.0718	L	0.58925	1.835	0.29393	N	0.862507	B	0.24043	0.096	B	0.28638	0.092	T	0.29088	-1.0023	9	0.87932	D	0	.	12.1898	0.54264	0.0:0.1741:0.8259:0.0	.	645	Q6ECI4	ZN470_HUMAN	A	645	ENSP00000375590:G645A;ENSP00000333223:G645A	ENSP00000333223:G645A	G	+	2	0	ZNF470	61781543	0.998000	0.40836	0.983000	0.44433	0.996000	0.88848	2.506000	0.45433	0.823000	0.34589	0.561000	0.74099	GGA		PASS	0.418	ZNF470-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459707.2	NM_001001668		33	32	33	32	---	---	---	---
PEG3	5178	broad.mit.edu	37	19	57325205	57325205	+	Silent	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:57325205A>T	ENST00000326441.9	-	10	4968	c.4605T>A	c.(4603-4605)ccT>ccA	p.P1535P	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Silent_p.P1409P|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.P1535P|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.P1411P	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1535					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.P1535P(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)		AGGCATTTGCAGGCTCAAATA	0.478																																						uc002qnu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(4603-4605)CCT>CCA		paternally expressed 3 isoform 1							162.0	143.0	149.0					19																	57325205		2203	4300	6503	SO:0001819	synonymous_variant	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57325205A>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.4605T>A	19.37:g.57325205A>T						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_Silent_p.P1506P|PEG3_uc002qnv.2_Silent_p.P1535P|PEG3_uc002qnw.2_Silent_p.P1411P|PEG3_uc002qnx.2_Silent_p.P1409P|PEG3_uc010etr.2_Silent_p.P1535P	p.P1535P	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	4956	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1535					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	c.4605T>A	CCDS12948.1																																																																																				PASS	0.478	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			4	129	4	129	---	---	---	---
ZNF17	7565	broad.mit.edu	37	19	57931891	57931891	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:57931891C>A	ENST00000601808.1	+	3	1244	c.1031C>A	c.(1030-1032)gCa>gAa	p.A344E	ZNF17_ENST00000307658.7_Missense_Mutation_p.A346E|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	344					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.A344E(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TACAGTTCAGCACTCATTAGA	0.413																																					Melanoma(149;1637 1853 29914 42869 44988)	uc002qoo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1030-1032)GCA>GAA		zinc finger protein 17							81.0	85.0	84.0					19																	57931891		2195	4299	6494	SO:0001583	missense	7565				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57931891C>A	X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.1031C>A	19.37:g.57931891C>A	ENSP00000471905:p.Ala344Glu					ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Missense_Mutation_p.A346E	p.A344E	NM_006959	NP_008890	P17021	ZNF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)	3	1262	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)	344					B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	c.1031C>A	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	C	4.559	0.103882	0.08731	.	.	ENSG00000186272	ENST00000307658	.	.	.	1.58	-2.12	0.07165	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13286	0.0322	N	0.20530	0.585	0.09310	N	1	P;P	0.39940	0.496;0.696	B;B	0.36989	0.084;0.238	T	0.20538	-1.0272	8	0.06625	T	0.88	.	6.5894	0.22638	0.1597:0.5148:0.3256:0.0	.	346;344	P17021-2;P17021	.;ZNF17_HUMAN	E	344	.	ENSP00000302455:A344E	A	+	2	0	ZNF17	62623703	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.551000	0.00433	-0.361000	0.08125	0.650000	0.86243	GCA		PASS	0.413	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959		4	115	4	115	---	---	---	---
ZNF324B	388569	broad.mit.edu	37	19	58967702	58967702	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:58967702A>G	ENST00000336614.4	+	4	1498	c.1391A>G	c.(1390-1392)aAg>aGg	p.K464R	ZNF324B_ENST00000545523.1_Missense_Mutation_p.K464R|ZNF324B_ENST00000391696.1_Missense_Mutation_p.K454R	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	464					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.K464R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GGTTTCGCCAAGGGCGCCGTG	0.692																																						uc002qsv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1390-1392)AAG>AGG		zinc finger protein 324B							51.0	55.0	54.0					19																	58967702		2203	4299	6502	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967702A>G	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1391A>G	19.37:g.58967702A>G	ENSP00000337473:p.Lys464Arg					ZNF324B_uc002qsu.1_Missense_Mutation_p.K454R|ZNF324B_uc010euq.1_Missense_Mutation_p.K464R	p.K464R	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1498	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	464			C2H2-type 8.		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.1391A>G	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	A	5.978	0.364467	0.11296	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.06218	3.46;3.46;3.33	3.07	2.04	0.26737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000694	T	0.03520	0.0101	N	0.04387	-0.21	0.09310	N	1	P;B	0.44776	0.843;0.006	P;B	0.47891	0.56;0.019	T	0.38607	-0.9653	10	0.30854	T	0.27	.	3.9122	0.09209	0.714:0.0:0.286:0.0	.	464;454	Q6AW86;C9JTQ8	Z324B_HUMAN;.	R	464;464;454	ENSP00000337473:K464R;ENSP00000438930:K464R;ENSP00000375578:K454R	ENSP00000337473:K464R	K	+	2	0	ZNF324B	63659514	0.000000	0.05858	0.428000	0.26697	0.032000	0.12392	-0.624000	0.05540	1.391000	0.46566	0.482000	0.46254	AAG		PASS	0.692	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		14	79	14	79	---	---	---	---
TRIB3	57761	broad.mit.edu	37	20	377279	377279	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:377279G>T	ENST00000217233.3	+	4	1575	c.1022G>T	c.(1021-1023)gGg>gTg	p.G341V	TRIB3_ENST00000422053.2_Missense_Mutation_p.G368V	NM_021158.3	NP_066981.2	Q96RU7	TRIB3_HUMAN	tribbles pseudokinase 3	341					cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|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)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of protein binding (GO:0032092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|regulation of glucose transport (GO:0010827)|regulation of MAP kinase activity (GO:0043405)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)|transcription corepressor activity (GO:0003714)|transferase activity, transferring phosphorus-containing groups (GO:0016772)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase regulator activity (GO:0055106)	p.G341V(1)		breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	21		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)		GATGGACTGGGGCTGGACGAA	0.612																																					Melanoma(101;421 2374 19538)	uc002wdm.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1021-1023)GGG>GTG		tribbles 3							55.0	55.0	55.0					20																	377279		2192	4283	6475	SO:0001583	missense	57761				apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	g.chr20:377279G>T	AF250311	CCDS12997.1	20p13-p12.2	2013-10-03	2013-10-03	2004-05-04	ENSG00000101255	ENSG00000101255			16228	protein-coding gene	gene with protein product		607898	"""chromosome 20 open reading frame 97"", ""tribbles homolog 3 (Drosophila)"""	C20orf97		12791994, 16715410	Standard	XM_005260773		Approved	dJ1103G7.3, TRB3	uc002wdm.3	Q96RU7	OTTHUMG00000031627	ENST00000217233.3:c.1022G>T	20.37:g.377279G>T	ENSP00000217233:p.Gly341Val					TRIB3_uc002wdn.2_Missense_Mutation_p.G368V	p.G341V	NM_021158	NP_066981	Q96RU7	TRIB3_HUMAN		Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112)	4	1528	+		all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231)	341					Q53GU4|Q53ZW7|Q6I9Y9|Q8TAI6|Q9H5M8|Q9NUD2	Missense_Mutation	SNP	ENST00000217233.3	37	c.1022G>T	CCDS12997.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279412	0.23307	.	.	ENSG00000101255	ENST00000217233;ENST00000422053	T;T	0.49432	0.82;0.78	5.23	4.27	0.50696	Protein kinase-like domain (1);	0.273604	0.26553	N	0.023738	T	0.30792	0.0776	L	0.27053	0.805	0.09310	N	0.999994	B;B	0.34103	0.437;0.437	B;B	0.32289	0.143;0.143	T	0.13202	-1.0518	10	0.27785	T	0.31	-18.7433	8.7613	0.34676	0.1026:0.0:0.8974:0.0	.	368;341	B4DMM9;Q96RU7	.;TRIB3_HUMAN	V	341;368	ENSP00000217233:G341V;ENSP00000415416:G368V	ENSP00000217233:G341V	G	+	2	0	TRIB3	325279	0.503000	0.26115	0.005000	0.12908	0.005000	0.04900	1.559000	0.36320	1.406000	0.46857	0.655000	0.94253	GGG		PASS	0.612	TRIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077441.2	NM_021158		34	74	34	74	---	---	---	---
SNRPB	6628	broad.mit.edu	37	20	2446372	2446372	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:2446372C>G	ENST00000438552.2	-	3	411	c.249G>C	c.(247-249)gaG>gaC	p.E83D	SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000381342.2_Missense_Mutation_p.E83D|SNRPB_ENST00000339610.6_Missense_Mutation_p.E4D	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	83					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.E83D(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						GAGGAGGTCCCTCTACTGTCA	0.527																																						uc002wfz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(247-249)GAG>GAC		small nuclear ribonucleoprotein polypeptide B/B'							125.0	105.0	112.0					20																	2446372		2203	4300	6503	SO:0001583	missense	6628				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|protein binding|RNA binding	g.chr20:2446372C>G		CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.249G>C	20.37:g.2446372C>G	ENSP00000412566:p.Glu83Asp					SNRPB_uc002wga.1_Missense_Mutation_p.E83D|SNRPB_uc010zpv.1_Missense_Mutation_p.E4D|SNRPB_uc002wgb.2_Missense_Mutation_p.E83D|SNORD119_uc010gam.1_5'Flank	p.E83D	NM_198216	NP_937859	P14678	RSMB_HUMAN			3	412	-			83					Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	c.249G>C	CCDS13026.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.097834	0.37048	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103;ENST00000339610	T;T	0.42900	0.96;0.96	4.81	2.44	0.29823	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.43567	0.1253	L	0.55017	1.72	0.58432	D	0.999991	P;B;B;B	0.46578	0.88;0.152;0.152;0.266	P;B;B;B	0.50270	0.636;0.065;0.065;0.115	T	0.38243	-0.9670	10	0.87932	D	0	.	6.1307	0.20203	0.0:0.6134:0.0:0.3866	.	4;83;83;83	A8MT02;B4DVS0;Q66K91;P14678	.;.;.;RSMB_HUMAN	D	83;83;83;4	ENSP00000370746:E83D;ENSP00000412566:E83D	ENSP00000303591:E83D	E	-	3	2	SNRPB	2394372	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.672000	0.25187	0.951000	0.37770	0.655000	0.94253	GAG		PASS	0.527	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			40	95	40	95	---	---	---	---
CPXM1	56265	broad.mit.edu	37	20	2776343	2776343	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:2776343A>T	ENST00000380605.2	-	11	1686	c.1622T>A	c.(1621-1623)cTg>cAg	p.L541Q		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	541					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.L541Q(1)		endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CTGCATGGCCAGATTACTGCC	0.632																																						uc002wgu.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)	4						c.(1621-1623)CTG>CAG		carboxypeptidase X, member 1 precursor							62.0	53.0	56.0					20																	2776343		2203	4300	6503	SO:0001583	missense	56265				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding	g.chr20:2776343A>T	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1622T>A	20.37:g.2776343A>T	ENSP00000369979:p.Leu541Gln					CPXM1_uc010gas.2_Intron	p.L541Q	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN			11	1686	-			541					Q6P4G8|Q6UW65|Q9NUB5	Missense_Mutation	SNP	ENST00000380605.2	37	c.1622T>A	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	A	0.925	-0.714510	0.03206	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	T	0.09723	2.95	5.15	2.17	0.27698	Peptidase M14, carboxypeptidase A (2);	0.507844	0.21920	N	0.067164	T	0.08268	0.0206	L	0.47716	1.5	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.41161	-0.9524	10	0.13108	T	0.6	-8.0232	6.3031	0.21123	0.1594:0.6951:0.0:0.1454	.	541	Q96SM3	CPXM1_HUMAN	Q	541;237	ENSP00000369979:L541Q	ENSP00000369979:L541Q	L	-	2	0	CPXM1	2724343	0.000000	0.05858	0.034000	0.17996	0.433000	0.31745	-0.715000	0.04997	0.336000	0.23639	-0.445000	0.05633	CTG		PASS	0.632	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609		14	60	14	60	---	---	---	---
SLC24A3	57419	broad.mit.edu	37	20	19665875	19665875	+	Silent	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:19665875A>T	ENST00000328041.6	+	12	1391	c.1194A>T	c.(1192-1194)acA>acT	p.T398T		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	398					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.T398T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGAATGGGACACGGAGGGACG	0.542																																						uc002wrl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1192-1194)ACA>ACT		solute carrier family 24							103.0	95.0	98.0					20																	19665875		2203	4300	6503	SO:0001819	synonymous_variant	57419					integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr20:19665875A>T	AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1194A>T	20.37:g.19665875A>T							p.T398T	NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN			12	1391	+			398			Cytoplasmic (Potential).		B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	ENST00000328041.6	37	c.1194A>T	CCDS13140.1																																																																																				PASS	0.542	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078207.4	NM_020689		18	53	18	53	---	---	---	---
ACSS1	84532	broad.mit.edu	37	20	25002053	25002053	+	Silent	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:25002053A>G	ENST00000323482.4	-	6	1159	c.1080T>C	c.(1078-1080)ttT>ttC	p.F360F	ACSS1_ENST00000537502.1_Silent_p.F277F|ACSS1_ENST00000542618.1_Silent_p.F239F|ACSS1_ENST00000432802.2_Silent_p.F360F	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	360					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.F360F(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGTGCTCTCAAAAAGGACGC	0.562																																						uc002wub.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(1078-1080)TTT>TTC		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						104.0	80.0	88.0					20																	25002053		2203	4300	6503	SO:0001819	synonymous_variant	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:25002053A>G		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1080T>C	20.37:g.25002053A>G						ACSS1_uc002wuc.2_Silent_p.F360F|ACSS1_uc010gdc.2_Intron|ACSS1_uc002wud.1_RNA|ACSS1_uc002wua.2_Silent_p.F277F	p.F360F	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN			6	1958	-			360					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Silent	SNP	ENST00000323482.4	37	c.1080T>C	CCDS13167.1																																																																																				PASS	0.562	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		18	41	18	41	---	---	---	---
DEFB118	117285	broad.mit.edu	37	20	29956507	29956507	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:29956507C>T	ENST00000253381.2	+	1	87	c.54C>T	c.(52-54)atC>atT	p.I18I		NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118	18					cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)		p.I18I(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CCCAAGTGATCCCAGGTAATC	0.498																																						uc002wvr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(52-54)ATC>ATT		beta-defensin 118 precursor							115.0	100.0	105.0					20																	29956507		2203	4300	6503	SO:0001819	synonymous_variant	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29956507C>T	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.54C>T	20.37:g.29956507C>T							p.I18I	NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		1	80	+	all_hematologic(12;0.158)		18					Q17RC4|Q8N691|Q9NUH0	Silent	SNP	ENST00000253381.2	37	c.54C>T	CCDS13177.1																																																																																				PASS	0.498	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112		26	78	26	78	---	---	---	---
GSS	2937	broad.mit.edu	37	20	33517381	33517381	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:33517381T>C	ENST00000216951.2	-	12	1222	c.1124A>G	c.(1123-1125)tAt>tGt	p.Y375C	GSS_ENST00000541098.1_Missense_Mutation_p.Y247C|GSS_ENST00000451957.2_Missense_Mutation_p.Y264C	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	375					aging (GO:0007568)|cellular amino acid metabolic process (GO:0006520)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|nervous system development (GO:0007399)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to nutrient levels (GO:0031667)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|glutathione binding (GO:0043295)|glutathione synthase activity (GO:0004363)|glycine binding (GO:0016594)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.Y375C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Acetylcysteine(DB06151)|Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	TTCCTCCCCATATAGGTTGTT	0.537																																						uc002xbg.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1123-1125)TAT>TGT		glutathione synthetase	Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)						201.0	176.0	184.0					20																	33517381		2203	4300	6503	SO:0001583	missense	2937				nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity	g.chr20:33517381T>C		CCDS13245.1	20q11.2	1996-06-18			ENSG00000100983	ENSG00000100983	6.3.2.3		4624	protein-coding gene	gene with protein product		601002				8825653	Standard	NM_000178		Approved		uc002xbg.3	P48637	OTTHUMG00000032315	ENST00000216951.2:c.1124A>G	20.37:g.33517381T>C	ENSP00000216951:p.Tyr375Cys					GSS_uc010zun.1_Missense_Mutation_p.Y247C|GSS_uc010zuo.1_Missense_Mutation_p.Y264C|GSS_uc010zup.1_Missense_Mutation_p.Y306C|GSS_uc002xbh.2_RNA|GSS_uc010gez.1_Missense_Mutation_p.Y105C	p.Y375C	NM_000178	NP_000169	P48637	GSHB_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.035)		12	1204	-			375				ATP.	B2R697|B6F210|E1P5P9|Q4TTD9	Missense_Mutation	SNP	ENST00000216951.2	37	c.1124A>G	CCDS13245.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.469288	0.63625	.	.	ENSG00000100983	ENST00000216951;ENST00000541098;ENST00000451957	D;D;D	0.93366	-3.21;-3.21;-3.21	5.13	5.13	0.70059	ATP-grasp fold, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	H	0.95004	3.61	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.979	D	0.98745	1.0718	10	0.87932	D	0	-7.4374	14.9223	0.70847	0.0:0.0:0.0:1.0	.	264;375	B6F210;P48637	.;GSHB_HUMAN	C	375;247;264	ENSP00000216951:Y375C;ENSP00000439744:Y247C;ENSP00000407517:Y264C	ENSP00000216951:Y375C	Y	-	2	0	GSS	32981042	1.000000	0.71417	0.952000	0.39060	0.883000	0.51084	4.679000	0.61649	1.922000	0.55676	0.402000	0.26972	TAT		PASS	0.537	GSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078821.2			74	218	74	218	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35467803	35467803	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:35467803C>A	ENST00000357779.3	-	2	341	c.15G>T	c.(13-15)cgG>cgT	p.R5R	SOGA1_ENST00000279034.6_Silent_p.R5R|SOGA1_ENST00000237536.4_Silent_p.R243R			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	5					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R243R(3)|p.R5R(1)		endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						TATAGACGTCCCGCATCTCCA	0.632																																						uc002xgd.1																			4	Substitution - coding silent(4)		lung(4)		0						c.(13-15)CGG>CGT		hypothetical protein LOC140710 isoform 2							39.0	42.0	41.0					20																	35467803		2115	4241	6356	SO:0001819	synonymous_variant	140710							g.chr20:35467803C>A	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.15G>T	20.37:g.35467803C>A							p.R5R	NM_199181	NP_954650	O94964	K0889_HUMAN			2	342	-		Myeloproliferative disorder(115;0.00874)	5					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Silent	SNP	ENST00000357779.3	37	c.15G>T																																																																																					PASS	0.632	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		24	40	24	40	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37169808	37169808	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:37169808A>T	ENST00000262879.6	+	18	2971	c.2687A>T	c.(2686-2688)aAg>aTg	p.K896M	RALGAPB_ENST00000397042.3_Missense_Mutation_p.K892M|RALGAPB_ENST00000397038.1_Missense_Mutation_p.K674M|RALGAPB_ENST00000397040.1_Missense_Mutation_p.K896M			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	896					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.K896M(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGAGGGTAAAGGATGCTGCT	0.458																																						uc002xiw.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(2686-2688)AAG>ATG		Ral GTPase activating protein, beta subunit							120.0	101.0	108.0					20																	37169808		2203	4300	6503	SO:0001583	missense	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37169808A>T	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2687A>T	20.37:g.37169808A>T	ENSP00000262879:p.Lys896Met					RALGAPB_uc002xix.2_Missense_Mutation_p.K892M|RALGAPB_uc002xiy.1_Missense_Mutation_p.K896M|RALGAPB_uc002xiz.2_Missense_Mutation_p.K674M|RALGAPB_uc002xja.1_Missense_Mutation_p.K623M	p.K896M	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			18	2944	+			896					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	37	c.2687A>T	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.891010	0.91889	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.74122	0.3675	L	0.47716	1.5	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.997	T	0.76884	-0.2794	9	0.87932	D	0	.	15.5979	0.76602	1.0:0.0:0.0:0.0	.	724;896;892;896	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	M	896;892;896;674;896;724	.	ENSP00000262879:K896M	K	+	2	0	RALGAPB	36603222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.081000	0.62600	0.460000	0.39030	AAG		PASS	0.458	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		41	76	41	76	---	---	---	---
PPP1R16B	26051	broad.mit.edu	37	20	37524217	37524217	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:37524217G>T	ENST00000299824.1	+	4	520	c.331G>T	c.(331-333)Gac>Tac	p.D111Y	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.D111Y	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	111					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)	p.D111Y(1)		biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GTGCTGCATCGACAACTTTGA	0.607																																						uc002xje.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|kidney(1)|skin(1)	3						c.(331-333)GAC>TAC		protein phosphatase 1 regulatory inhibitor							109.0	90.0	96.0					20																	37524217		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37524217G>T	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.331G>T	20.37:g.37524217G>T	ENSP00000299824:p.Asp111Tyr					PPP1R16B_uc010ggc.2_Missense_Mutation_p.D111Y	p.D111Y	NM_015568	NP_056383	Q96T49	PP16B_HUMAN			4	520	+		Myeloproliferative disorder(115;0.00878)	111			ANK 1.		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.331G>T	CCDS13309.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382663	0.82792	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.63580	-0.05;-0.05	3.88	3.88	0.44766	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.67392	0.2888	N	0.21583	0.68	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.991;1.0	T	0.70350	-0.4896	10	0.45353	T	0.12	.	16.4066	0.83671	0.0:0.0:1.0:0.0	.	111;111	E9PFS8;Q96T49	.;PP16B_HUMAN	Y	111	ENSP00000299824:D111Y;ENSP00000362428:D111Y	ENSP00000299824:D111Y	D	+	1	0	PPP1R16B	36957631	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.071000	0.93980	2.167000	0.68274	0.637000	0.83480	GAC		PASS	0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		11	30	11	30	---	---	---	---
ZSWIM3	140831	broad.mit.edu	37	20	44506234	44506234	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:44506234G>T	ENST00000255152.2	+	2	1246	c.1037G>T	c.(1036-1038)aGc>aTc	p.S346I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.S340I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	346							zinc ion binding (GO:0008270)	p.S346I(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				TCTGAAGCCAGCCTGAAAAAT	0.512																																						uc002xqd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1036-1038)AGC>ATC		zinc finger, SWIM domain containing 3							79.0	80.0	80.0					20																	44506234		2203	4300	6503	SO:0001583	missense	140831						zinc ion binding	g.chr20:44506234G>T	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1037G>T	20.37:g.44506234G>T	ENSP00000255152:p.Ser346Ile					ZSWIM3_uc010zxg.1_Missense_Mutation_p.S340I	p.S346I	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN			2	1240	+		Myeloproliferative disorder(115;0.0122)	346					Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	37	c.1037G>T	CCDS13381.1	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849550	0.51270	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.25749	1.8;1.78	5.65	4.67	0.58626	.	0.174144	0.52532	D	0.000079	T	0.20861	0.0502	L	0.29908	0.895	0.33987	D	0.648611	P;P	0.50272	0.933;0.933	P;P	0.44647	0.456;0.456	T	0.29305	-1.0016	10	0.41790	T	0.15	-21.451	9.6602	0.39950	0.0735:0.143:0.7835:0.0	.	340;346	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	I	346;340	ENSP00000255152:S346I;ENSP00000406313:S340I	ENSP00000255152:S346I	S	+	2	0	ZSWIM3	43939641	0.901000	0.30685	1.000000	0.80357	0.964000	0.63967	0.374000	0.20501	1.565000	0.49641	0.655000	0.94253	AGC		PASS	0.512	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	NM_080752		56	93	56	93	---	---	---	---
PREX1	57580	broad.mit.edu	37	20	47273723	47273723	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:47273723C>A	ENST00000371941.3	-	18	2000	c.1978G>T	c.(1978-1980)Gct>Tct	p.A660S	PREX1_ENST00000396220.1_Missense_Mutation_p.A660S	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	660	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A660S(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGCAGGCCAGCCACCTGGGTA	0.567											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xtw.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)|pancreas(1)	6						c.(1978-1980)GCT>TCT		phosphatidylinositol-3,4,							76.0	59.0	65.0					20																	47273723		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47273723C>A	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1978G>T	20.37:g.47273723C>A	ENSP00000361009:p.Ala660Ser		OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	PREX1_uc002xtv.1_5'Flank	p.A660S	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		18	2001	-			660			PDZ.		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1978G>T	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.022730	0.75275	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.20598	2.06;2.06	5.12	5.12	0.69794	PDZ/DHR/GLGF (3);	0.000000	0.53938	U	0.000049	T	0.18759	0.0450	N	0.16656	0.425	0.80722	D	1	P	0.39060	0.657	B	0.41135	0.348	T	0.04522	-1.0945	10	0.49607	T	0.09	.	18.5717	0.91137	0.0:1.0:0.0:0.0	.	660	Q8TCU6	PREX1_HUMAN	S	660	ENSP00000361009:A660S;ENSP00000379522:A660S	ENSP00000361009:A660S	A	-	1	0	PREX1	46707130	1.000000	0.71417	0.999000	0.59377	0.137000	0.21094	7.818000	0.86416	2.376000	0.81061	0.561000	0.74099	GCT		PASS	0.567	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820		3	53	3	53	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61525784	61525784	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr20:61525784G>A	ENST00000266070.4	-	11	2878	c.2553C>T	c.(2551-2553)ctC>ctT	p.L851L	DIDO1_ENST00000395335.2_Silent_p.L851L|DIDO1_ENST00000395343.1_Silent_p.L851L|DIDO1_ENST00000395340.1_Silent_p.L851L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	851					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L851L(1)		NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TTTTACAGTTGAGATCGAAGA	0.502																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(3)	6						c.(2551-2553)CTC>CTT		death inducer-obliterator 1 isoform c							98.0	92.0	94.0					20																	61525784		2203	4300	6503	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61525784G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2553C>T	20.37:g.61525784G>A						DIDO1_uc002yds.1_Silent_p.L851L|DIDO1_uc002ydt.1_Silent_p.L851L|DIDO1_uc002ydu.1_Silent_p.L851L	p.L851L	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			11	2817	-	Breast(26;5.68e-08)		851					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.2553C>T	CCDS33506.1																																																																																				PASS	0.502	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		37	95	37	95	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10934070	10934070	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr21:10934070T>A	ENST00000361285.4	-	16	1236	c.907A>T	c.(907-909)Atg>Ttg	p.M303L	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000298232.7_Missense_Mutation_p.M285L|TPTE_ENST00000342420.5_Missense_Mutation_p.M265L	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	303	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.M303L(1)|p.M285L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATCAATCATGATTCTAACG	0.313																																						uc002yip.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(907-909)ATG>TTG		transmembrane phosphatase with tensin homology							186.0	189.0	188.0					21																	10934070		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934070T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.907A>T	21.37:g.10934070T>A	ENSP00000355208:p.Met303Leu					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.M285L|TPTE_uc002yir.1_Missense_Mutation_p.M265L|TPTE_uc010gkv.1_Missense_Mutation_p.M165L	p.M303L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1275	-			303			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.907A>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	0	-2.854792	0.00065	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.84800	-1.9;-1.9;-1.9	2.07	0.812	0.18744	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.421653	0.27193	U	0.020500	T	0.65616	0.2708	N	0.16790	0.44	0.24087	N	0.995925	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.003;0.003;0.002	T	0.46569	-0.9182	10	0.09084	T	0.74	-10.2278	4.8404	0.13487	0.5156:0.0:0.0:0.4844	.	265;285;303	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	L	285;303;265	ENSP00000298232:M285L;ENSP00000355208:M303L;ENSP00000344441:M265L	ENSP00000298232:M285L	M	-	1	0	TPTE	9955941	0.999000	0.42202	0.027000	0.17364	0.114000	0.19823	1.064000	0.30579	0.213000	0.20722	0.163000	0.16589	ATG		PASS	0.313	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			17	537	17	537	---	---	---	---
TIAM1	7074	broad.mit.edu	37	21	32617976	32617976	+	Splice_Site	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr21:32617976C>A	ENST00000286827.3	-	7	1883	c.1412G>T	c.(1411-1413)gGa>gTa	p.G471V	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Splice_Site_p.G471V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	471	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G471V(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TAGCGTGCATCCTGAGGAAAC	0.517																																						uc002yow.1																			2	Substitution - Missense(2)		lung(2)	lung(3)|breast(3)|ovary(2)|large_intestine(2)	10						c.(1411-1413)GGA>GTA		T-cell lymphoma invasion and metastasis 1							58.0	50.0	53.0					21																	32617976		2203	4300	6503	SO:0001630	splice_region_variant	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32617976C>A		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.1412-1G>T	21.37:g.32617976C>A						TIAM1_uc011adk.1_Missense_Mutation_p.G471V|TIAM1_uc011adl.1_Missense_Mutation_p.G471V|TIAM1_uc002yox.1_Missense_Mutation_p.G79V	p.G471V	NM_003253	NP_003244	Q13009	TIAM1_HUMAN			7	1884	-			471			PH 1.		B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.1412G>T	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876984	0.91664	.	.	ENSG00000156299	ENST00000286827;ENST00000399841;ENST00000541036	T;T	0.28666	1.6;1.6	5.22	5.22	0.72569	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	L	0.49126	1.545	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.71870	0.924;0.955;0.975;0.955	T	0.51356	-0.8716	10	0.87932	D	0	.	18.9723	0.92719	0.0:1.0:0.0:0.0	.	471;471;312;471	F5GZ53;B7ZLR6;E9PD83;Q13009	.;.;.;TIAM1_HUMAN	V	471;312;471	ENSP00000286827:G471V;ENSP00000441570:G471V	ENSP00000286827:G471V	G	-	2	0	TIAM1	31539847	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.628000	0.83189	2.717000	0.92951	0.650000	0.86243	GGA		PASS	0.517	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	Missense_Mutation	15	18	15	18	---	---	---	---
SETD4	54093	broad.mit.edu	37	21	37431134	37431134	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr21:37431134C>G	ENST00000399215.1	-	1	1425	c.53G>C	c.(52-54)gGa>gCa	p.G18A	AP000688.11_ENST00000436303.1_RNA|SETD4_ENST00000332131.4_Missense_Mutation_p.G18A|SETD4_ENST00000399208.2_Missense_Mutation_p.G18A|SETD4_ENST00000399212.1_5'UTR|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000399201.1_5'UTR|SETD4_ENST00000399207.1_Missense_Mutation_p.G18A|SETD4_ENST00000399205.1_5'UTR			Q9NVD3	SETD4_HUMAN	SET domain containing 4	18							methyltransferase activity (GO:0008168)	p.G18A(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						TTCAGAACTTCCGCAGAGTTT	0.348																																						uc002yuw.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(52-54)GGA>GCA		SET domain containing 4 isoform a							208.0	213.0	211.0					21																	37431134		2203	4300	6503	SO:0001583	missense	54093							g.chr21:37431134C>G	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.53G>C	21.37:g.37431134C>G	ENSP00000382163:p.Gly18Ala					SETD4_uc002yux.1_5'UTR|SETD4_uc002yuu.2_RNA|SETD4_uc002yuv.2_Missense_Mutation_p.G18A|SETD4_uc002yuy.2_Missense_Mutation_p.G18A|SETD4_uc002yuz.2_5'UTR|SETD4_uc002yva.2_5'UTR	p.G18A	NM_017438	NP_059134	Q9NVD3	SETD4_HUMAN			1	1426	-			18					B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	c.53G>C	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.871020	0.00542	.	.	ENSG00000185917	ENST00000399215;ENST00000332131;ENST00000399208;ENST00000399207;ENST00000424303;ENST00000429161;ENST00000443703	T;T;T;T	0.20738	2.37;2.37;2.05;2.05	5.18	2.25	0.28309	.	0.864945	0.10088	N	0.717482	T	0.08582	0.0213	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.41627	-0.9498	10	0.08381	T	0.77	-25.5519	4.9224	0.13876	0.0:0.6086:0.1832:0.2081	.	18;18	C9JWV5;Q9NVD3	.;SETD4_HUMAN	A	18	ENSP00000382163:G18A;ENSP00000329189:G18A;ENSP00000382159:G18A;ENSP00000382158:G18A	ENSP00000329189:G18A	G	-	2	0	SETD4	36353004	0.000000	0.05858	0.138000	0.22173	0.006000	0.05464	-0.763000	0.04740	0.239000	0.21243	0.650000	0.86243	GGA		PASS	0.348	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438		42	261	42	261	---	---	---	---
HLCS	3141	broad.mit.edu	37	21	38309018	38309018	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr21:38309018C>G	ENST00000399120.1	-	5	1957	c.727G>C	c.(727-729)Gtg>Ctg	p.V243L	HLCS_ENST00000336648.4_Missense_Mutation_p.V243L	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	243					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)	p.V243L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	AGGCCCAACACCTTCCCTCCC	0.522																																						uc010gnb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|kidney(1)|liver(1)	5						c.(727-729)GTG>CTG		holocarboxylase synthetase	Biotin(DB00121)						76.0	76.0	76.0					21																	38309018		2203	4300	6503	SO:0001583	missense	3141				cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	g.chr21:38309018C>G		CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.727G>C	21.37:g.38309018C>G	ENSP00000382071:p.Val243Leu					HLCS_uc002yvs.2_Missense_Mutation_p.V243L|HLCS_uc010gnc.1_Missense_Mutation_p.V390L	p.V243L	NM_000411	NP_000402	P50747	BPL1_HUMAN			4	1928	-		Myeloproliferative disorder(46;0.0422)	243					B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	ENST00000399120.1	37	c.727G>C	CCDS13647.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.978391	0.34942	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98329	-4.87;-4.87	5.91	4.07	0.47477	.	0.322809	0.34362	N	0.004035	D	0.95284	0.8470	L	0.48642	1.525	0.47341	D	0.999394	B;B	0.25563	0.129;0.108	B;B	0.19666	0.026;0.025	D	0.92512	0.6017	10	0.26408	T	0.33	.	8.1403	0.31080	0.0:0.6766:0.0:0.3234	.	243;243	B2RAH1;P50747	.;BPL1_HUMAN	L	243	ENSP00000382071:V243L;ENSP00000338387:V243L	ENSP00000338387:V243L	V	-	1	0	HLCS	37230888	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	0.932000	0.28884	1.475000	0.48197	0.655000	0.94253	GTG		PASS	0.522	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194687.2			5	49	5	49	---	---	---	---
WDR4	10785	broad.mit.edu	37	21	44296822	44296822	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr21:44296822C>T	ENST00000398208.2	-	2	204	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	WDR4_ENST00000330317.2_Missense_Mutation_p.E49K|WDR4_ENST00000492742.1_5'UTR	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2			WD repeat domain 4									p.E49K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CCTTTATTTTCTTGTGACTTC	0.393																																						uc002zci.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(145-147)GAA>AAA		WD repeat domain 4 protein							119.0	110.0	113.0					21																	44296822		2203	4300	6503	SO:0001583	missense	10785				tRNA modification	cytoplasm|nucleoplasm	protein binding	g.chr21:44296822C>T	AJ243912	CCDS13691.1	21q22.3	2013-01-09			ENSG00000160193	ENSG00000160193		"""WD repeat domain containing"""	12756	protein-coding gene	gene with protein product	"""TRM82 tRNA methyltransferase 82 homolog (S. cerevisiae)"""	605924				12403464	Standard	NM_018669		Approved	TRM82, TRMT82	uc002zci.4	P57081	OTTHUMG00000086826	ENST00000398208.2:c.145G>A	21.37:g.44296822C>T	ENSP00000381266:p.Glu49Lys					WDR4_uc002zck.1_Missense_Mutation_p.E49K|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Missense_Mutation_p.E49K|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	p.E49K	NM_033661	NP_387510	P57081	WDR4_HUMAN		Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)	2	218	-			49						Missense_Mutation	SNP	ENST00000398208.2	37	c.145G>A	CCDS13691.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.918863	0.52546	.	.	ENSG00000160193	ENST00000330317;ENST00000398208	T;T	0.29142	1.58;1.58	5.03	5.03	0.67393	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.708602	0.13764	N	0.364404	T	0.37758	0.1015	L	0.55103	1.725	0.22989	N	0.998467	P;B	0.51653	0.947;0.177	P;B	0.49853	0.624;0.072	T	0.19095	-1.0316	10	0.18276	T	0.48	-11.653	13.8786	0.63670	0.0:1.0:0.0:0.0	.	49;49	P57081-2;P57081	.;WDR4_HUMAN	K	49	ENSP00000328671:E49K;ENSP00000381266:E49K	ENSP00000328671:E49K	E	-	1	0	WDR4	43169891	0.620000	0.27068	0.081000	0.20488	0.553000	0.35397	2.525000	0.45598	2.331000	0.79229	0.591000	0.81541	GAA		PASS	0.393	WDR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195479.1			20	58	20	58	---	---	---	---
ITGB2	3689	broad.mit.edu	37	21	46320303	46320303	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr21:46320303C>A	ENST00000397850.2	-	8	1281	c.829G>T	c.(829-831)Gcc>Tcc	p.A277S	ITGB2_ENST00000302347.5_Missense_Mutation_p.A277S|ITGB2_ENST00000397852.1_Missense_Mutation_p.A277S|ITGB2_ENST00000397854.3_Missense_Mutation_p.A220S|ITGB2_ENST00000355153.4_Missense_Mutation_p.A277S|ITGB2_ENST00000397857.1_Missense_Mutation_p.A277S			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	277	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.A277S(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GTCAGGATGGCGCCCAGCTTC	0.627																																						uc002zgd.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(3)|breast(2)	9						c.(829-831)GCC>TCC		integrin, beta 2 precursor	Simvastatin(DB00641)						106.0	88.0	94.0					21																	46320303		2203	4300	6503	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320303C>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.829G>T	21.37:g.46320303C>A	ENSP00000380948:p.Ala277Ser					ITGB2_uc002zge.2_Missense_Mutation_p.A277S|ITGB2_uc002zgf.3_Missense_Mutation_p.A277S|ITGB2_uc011afl.1_Missense_Mutation_p.A199S|ITGB2_uc010gpw.2_Missense_Mutation_p.A220S|ITGB2_uc002zgg.2_Missense_Mutation_p.A277S	p.A277S	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	6	873	-			277			Extracellular (Potential).|VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.829G>T	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660232	0.47572	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000545414;ENST00000320216	D;D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	4.89	4.89	0.63831	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.	.	.	.	D	0.87783	0.6264	L	0.39467	1.215	0.38663	D	0.95213	B;B	0.34226	0.443;0.105	B;B	0.34931	0.171;0.192	D	0.87729	0.2578	9	0.51188	T	0.08	.	10.6046	0.45386	0.1917:0.8082:0.0:0.0	.	220;277	A8MYE6;P05107	.;ITB2_HUMAN	S	277;277;220;277;277;277;220;268	ENSP00000380950:A277S;ENSP00000380955:A277S;ENSP00000380952:A220S;ENSP00000347279:A277S;ENSP00000380948:A277S;ENSP00000303242:A277S;ENSP00000317697:A268S	ENSP00000303242:A277S	A	-	1	0	ITGB2	45144731	1.000000	0.71417	0.954000	0.39281	0.257000	0.26127	5.293000	0.65680	2.546000	0.85860	0.591000	0.81541	GCC		PASS	0.627	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		9	55	9	55	---	---	---	---
PCBP3	54039	broad.mit.edu	37	21	47350716	47350716	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr21:47350716A>T	ENST00000400314.1	+	13	1151	c.813A>T	c.(811-813)ttA>ttT	p.L271F	PCBP3_ENST00000449640.1_Missense_Mutation_p.L271F|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400304.1_Missense_Mutation_p.L261F|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000400308.1_Missense_Mutation_p.L245F|PCBP3_ENST00000400309.1_Missense_Mutation_p.L270F			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	271					mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L239F(1)|p.L271F(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		agctgcctttacactcctccg	0.498																																						uc002zhq.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(811-813)TTA>TTT		poly(rC) binding protein 3 isoform 1							70.0	74.0	72.0					21																	47350716		1988	4162	6150	SO:0001583	missense	54039				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	g.chr21:47350716A>T	AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.813A>T	21.37:g.47350716A>T	ENSP00000383168:p.Leu271Phe					PCBP3_uc010gqb.2_Missense_Mutation_p.L271F|PCBP3_uc002zhp.1_Intron|PCBP3_uc002zhs.1_Missense_Mutation_p.L245F|PCBP3_uc002zhr.1_Missense_Mutation_p.L270F|PCBP3_uc002zht.1_Missense_Mutation_p.L261F	p.L271F	NM_020528	NP_065389	P57721	PCBP3_HUMAN		Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)	11	938	+	all_hematologic(128;0.24)		271					A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	Missense_Mutation	SNP	ENST00000400314.1	37	c.813A>T	CCDS42974.2	.	.	.	.	.	.	.	.	.	.	A	9.141	1.013893	0.19277	.	.	ENSG00000183570	ENST00000400314;ENST00000400309;ENST00000400308;ENST00000449640;ENST00000400305;ENST00000400304	T;T;T;T;T;T	0.44881	1.46;1.46;1.43;1.46;1.84;0.91	4.36	3.21	0.36854	.	0.438355	0.15255	U	0.272138	T	0.39118	0.1066	N	0.14661	0.345	0.39139	D	0.962002	D;B;D;B;B	0.76494	0.999;0.037;0.991;0.001;0.0	D;B;D;B;B	0.83275	0.996;0.023;0.986;0.006;0.0	T	0.20505	-1.0273	10	0.08837	T	0.75	-10.1156	7.6107	0.28129	0.9026:0.0:0.0974:0.0	.	246;261;245;270;271	P57721-3;E9PFP8;P57721-2;P57721-4;P57721	.;.;.;.;PCBP3_HUMAN	F	271;270;245;271;222;261	ENSP00000383168:L271F;ENSP00000383164:L270F;ENSP00000383163:L245F;ENSP00000401198:L271F;ENSP00000383160:L222F;ENSP00000383159:L261F	ENSP00000383159:L261F	L	+	3	2	PCBP3	46175144	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.561000	0.60809	0.830000	0.34757	0.533000	0.62120	TTA		PASS	0.498	PCBP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206808.2			4	43	4	43	---	---	---	---
MCM3AP	8888	broad.mit.edu	37	21	47699911	47699911	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr21:47699911T>C	ENST00000397708.1	-	5	1917	c.1663A>G	c.(1663-1665)Aaa>Gaa	p.K555E	MCM3AP_ENST00000291688.1_Missense_Mutation_p.K555E			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	555	DNA primase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)	p.K555E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCCACCTTTTATTCAGGAGG	0.572																																						uc002zir.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(1663-1665)AAA>GAA		minichromosome maintenance complex component 3							107.0	96.0	100.0					21																	47699911		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47699911T>C	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1663A>G	21.37:g.47699911T>C	ENSP00000380820:p.Lys555Glu						p.K555E	NM_003906	NP_003897	O60318	MCM3A_HUMAN			4	1699	-	Breast(49;0.112)		555					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.1663A>G	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	T	19.58	3.854879	0.71719	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03831	3.79;3.79	5.12	5.12	0.69794	.	0.243789	0.48286	D	0.000199	T	0.07503	0.0189	L	0.56769	1.78	0.38875	D	0.956784	P	0.45078	0.85	B	0.41764	0.366	T	0.42783	-0.9431	10	0.22706	T	0.39	.	13.6558	0.62338	0.0:0.0:0.0:1.0	.	555	O60318	MCM3A_HUMAN	E	555	ENSP00000380820:K555E;ENSP00000291688:K555E	ENSP00000291688:K555E	K	-	1	0	MCM3AP	46524339	0.998000	0.40836	0.907000	0.35723	0.667000	0.39255	4.313000	0.59160	2.149000	0.67028	0.533000	0.62120	AAA		PASS	0.572	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1	NM_003906		8	76	8	76	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18301868	18301868	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr22:18301868C>A	ENST00000441493.2	-	26	3911	c.3559G>T	c.(3559-3561)Gcc>Tcc	p.A1187S		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1187	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.A1187S(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCTGGGTGGCGGCAGGGACA	0.602																																						uc002zng.3																			1	Substitution - Missense(1)		lung(1)		0						c.(3559-3561)GCC>TCC		microtubule associated monoxygenase, calponin							16.0	18.0	17.0					22																	18301868		1922	4098	6020	SO:0001583	missense	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301868C>A	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3559G>T	22.37:g.18301868C>A	ENSP00000416015:p.Ala1187Ser					MICAL3_uc011agl.1_Missense_Mutation_p.A1103S	p.A1187S	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	3912	-		all_epithelial(15;0.198)	1187			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	37	c.3559G>T	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	8.931	0.963458	0.18583	.	.	ENSG00000093100	ENST00000441493	T	0.62639	0.01	4.64	-3.79	0.04320	.	.	.	.	.	T	0.48696	0.1514	M	0.62723	1.935	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.40515	-0.9559	9	0.11182	T	0.66	.	6.2262	0.20710	0.1623:0.6388:0.0:0.1989	.	1187	Q7RTP6	MICA3_HUMAN	S	1187	ENSP00000416015:A1187S	ENSP00000416015:A1187S	A	-	1	0	XXbac-B461K10.4	16681868	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.198000	0.09505	-0.325000	0.08577	-0.440000	0.05779	GCC		PASS	0.602	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			7	15	7	15	---	---	---	---
DGCR8	54487	broad.mit.edu	37	22	20080404	20080404	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr22:20080404G>T	ENST00000351989.3	+	8	2108	c.1679G>T	c.(1678-1680)aGc>aTc	p.S560I	DGCR8_ENST00000407755.1_Intron|DGCR8_ENST00000383024.2_Intron	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	560	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.S560I(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					ACTGCAAGCAGCAAAAAACTT	0.463																																						uc002zri.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1678-1680)AGC>ATC		DiGeorge syndrome critical region gene 8							150.0	146.0	147.0					22																	20080404		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20080404G>T	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1679G>T	22.37:g.20080404G>T	ENSP00000263209:p.Ser560Ile					DGCR8_uc010grz.2_Intron|DGCR8_uc002zrj.2_Missense_Mutation_p.S203I	p.S560I	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			8	2029	+	Colorectal(54;0.0993)		560			Necessary for interaction with DROSHA.|Necessary for heme-binding and pri-miRNA processing.|DRBM 1.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1679G>T	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	34	5.315767	0.95655	.	.	ENSG00000128191	ENST00000351989	D	0.82433	-1.61	5.83	5.83	0.93111	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.95085	0.8408	H	0.97806	4.08	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96407	0.9301	10	0.87932	D	0	-14.1398	19.7061	0.96072	0.0:0.0:1.0:0.0	.	560	Q8WYQ5	DGCR8_HUMAN	I	560	ENSP00000263209:S560I	ENSP00000263209:S560I	S	+	2	0	DGCR8	18460404	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.741000	0.93983	0.655000	0.94253	AGC		PASS	0.463	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			61	126	61	126	---	---	---	---
IGLV7-43	28776	broad.mit.edu	37	22	22749622	22749622	+	RNA	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr22:22749622C>T	ENST00000390298.2	+	0	180									immunoglobulin lambda variable 7-43																		GGAGCAGTCACCAGTGGTTAC	0.552																																						uc011aim.1																			0					0								Parts of antibodies, mostly variable regions.							61.0	60.0	61.0					22																	22749622		1931	4134	6065			96610							g.chr22:22749622C>T	X14614		22q11.2	2012-02-08			ENSG00000211652	ENSG00000211652		"""Immunoglobulins / IGL locus"""	5929	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151053		22.37:g.22749622C>T														49		+									RNA	SNP	ENST00000390298.2	37	c.5619C>T																																																																																					PASS	0.552	IGLV7-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321113.1	NG_000002		27	103	27	103	---	---	---	---
MYO18B	84700	broad.mit.edu	37	22	26164471	26164471	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr22:26164471T>C	ENST00000407587.2	+	4	757	c.588T>C	c.(586-588)tcT>tcC	p.S196S	MYO18B_ENST00000335473.7_Silent_p.S196S|MYO18B_ENST00000536101.1_Silent_p.S196S			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	196						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.S196S(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGAGACCTCTAGGACTCCTT	0.607																																						uc003abz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2)	12						c.(586-588)TCT>TCC		myosin XVIIIB							18.0	21.0	20.0					22																	26164471		1869	4093	5962	SO:0001819	synonymous_variant	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26164471T>C	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.588T>C	22.37:g.26164471T>C						MYO18B_uc003aca.1_Silent_p.S77S|MYO18B_uc010guy.1_Silent_p.S77S|MYO18B_uc010guz.1_Silent_p.S77S|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	p.S196S	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			4	838	+			196					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	ENST00000407587.2	37	c.588T>C																																																																																					PASS	0.607	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		11	39	11	39	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29885966	29885966	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr22:29885966C>A	ENST00000310624.6	+	4	2370	c.2337C>A	c.(2335-2337)gaC>gaA	p.D779E		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	785	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D779E(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CCCCTGCAGACAAATTCCCTG	0.562																																						uc003afo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2335-2337)GAC>GAA		neurofilament, heavy polypeptide 200kDa							65.0	66.0	66.0					22																	29885966		2203	4300	6503	SO:0001583	missense	4744				cell death|nervous system development	neurofilament		g.chr22:29885966C>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2337C>A	22.37:g.29885966C>A	ENSP00000311997:p.Asp779Glu					NEFH_uc003afp.2_5'UTR	p.D779E	NM_021076	NP_066554	P12036	NFH_HUMAN			4	2408	+			785			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	ENST00000310624.6	37	c.2337C>A	CCDS13858.1	.	.	.	.	.	.	.	.	.	.	C	0.004	-2.248867	0.00268	.	.	ENSG00000100285	ENST00000310624	D	0.82255	-1.59	4.94	-3.68	0.04463	.	0.539849	0.16823	N	0.198094	T	0.65984	0.2744	L	0.34521	1.04	0.09310	N	1	B	0.13594	0.008	B	0.09377	0.004	T	0.52734	-0.8536	10	0.52906	T	0.07	.	2.5304	0.04702	0.229:0.2977:0.3362:0.1371	.	785	P12036	NFH_HUMAN	E	779	ENSP00000311997:D779E	ENSP00000311997:D779E	D	+	3	2	NEFH	28215966	0.003000	0.15002	0.000000	0.03702	0.302000	0.27658	-0.092000	0.11129	-0.317000	0.08677	-0.136000	0.14681	GAC		PASS	0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		100	76	100	76	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36684416	36684416	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr22:36684416C>A	ENST00000216181.5	-	34	5044	c.4814G>T	c.(4813-4815)cGc>cTc	p.R1605L	MYH9_ENST00000475726.1_5'Flank	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1605					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.R1605L(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGCCATCGAGCGCTGCTTCCT	0.617			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(4813-4815)CGC>CTC		myosin, heavy polypeptide 9, non-muscle							96.0	78.0	84.0					22																	36684416		2203	4300	6503	SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36684416C>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4814G>T	22.37:g.36684416C>A	ENSP00000216181:p.Arg1605Leu						p.R1605L	NM_002473	NP_002464	P35579	MYH9_HUMAN			34	5045	-			1605			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	ENST00000216181.5	37	c.4814G>T	CCDS13927.1	.	.	.	.	.	.	.	.	.	.	C	36	5.700055	0.96802	.	.	ENSG00000100345	ENST00000337818;ENST00000397231;ENST00000216181	T	0.81247	-1.47	5.5	5.5	0.81552	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.91610	0.7349	M	0.88704	2.975	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	D	0.92582	0.6075	10	0.87932	D	0	.	19.7664	0.96346	0.0:1.0:0.0:0.0	.	1605	P35579	MYH9_HUMAN	L	1027;207;1605	ENSP00000216181:R1605L	ENSP00000216181:R1605L	R	-	2	0	MYH9	35014362	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.776000	0.85560	2.735000	0.93741	0.655000	0.94253	CGC		PASS	0.617	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		28	115	28	115	---	---	---	---
GRAP2	9402	broad.mit.edu	37	22	40367029	40367029	+	Missense_Mutation	SNP	C	C	A	rs147808667		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr22:40367029C>A	ENST00000344138.4	+	8	1197	c.934C>A	c.(934-936)Cgc>Agc	p.R312S	GRAP2_ENST00000540310.1_Missense_Mutation_p.R246S|GRAP2_ENST00000399090.2_Missense_Mutation_p.R199S|GRAP2_ENST00000407075.3_Missense_Mutation_p.R312S|GRAP2_ENST00000544756.1_Missense_Mutation_p.R240S|GRAP2_ENST00000543252.1_Missense_Mutation_p.R260S	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	312	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)	p.R312S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GTGGACCGGCCGCCTGCACAA	0.602																																						uc003ayh.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(934-936)CGC>AGC		GRB2-related adaptor protein 2							83.0	72.0	76.0					22																	40367029		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40367029C>A	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.934C>A	22.37:g.40367029C>A	ENSP00000339186:p.Arg312Ser					GRAP2_uc003ayi.2_RNA|GRAP2_uc011aom.1_Missense_Mutation_p.R286S|GRAP2_uc011aon.1_Missense_Mutation_p.R246S|GRAP2_uc010gya.1_Missense_Mutation_p.R312S|GRAP2_uc011aoo.1_Missense_Mutation_p.R240S|GRAP2_uc011aop.1_Missense_Mutation_p.R272S|GRAP2_uc011aoq.1_Missense_Mutation_p.R199S|GRAP2_uc003ayj.1_Missense_Mutation_p.R312S	p.R312S	NM_004810	NP_004801	O75791	GRAP2_HUMAN			8	1197	+			312			SH3 2.		B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.934C>A	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.321927	0.41096	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.54479	0.57;1.36;0.57;0.57;0.57;0.57	5.45	0.494	0.16884	Src homology-3 domain (5);	0.291746	0.36815	N	0.002393	T	0.37073	0.0990	N	0.25485	0.75	0.21105	N	0.999785	P;B;B;B;B	0.37548	0.599;0.051;0.098;0.418;0.022	B;B;B;B;B	0.40329	0.326;0.041;0.165;0.223;0.025	T	0.23904	-1.0175	10	0.52906	T	0.07	-6.3986	7.3022	0.26426	0.1183:0.6126:0.0:0.2691	.	199;312;246;286;312	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	S	312;260;286;246;240;199;312	ENSP00000339186:R312S;ENSP00000446350:R260S;ENSP00000444734:R246S;ENSP00000442195:R240S;ENSP00000382040:R199S;ENSP00000385607:R312S	ENSP00000339186:R312S	R	+	1	0	GRAP2	38696975	0.022000	0.18835	0.950000	0.38849	0.984000	0.73092	0.271000	0.18626	0.282000	0.22254	0.557000	0.71058	CGC		PASS	0.602	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		39	94	39	94	---	---	---	---
SREBF2	6721	broad.mit.edu	37	22	42300914	42300914	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr22:42300914C>T	ENST00000361204.4	+	18	3307	c.3141C>T	c.(3139-3141)ccC>ccT	p.P1047P	SREBF2_ENST00000491541.1_3'UTR	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	1047					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1047P(1)		NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAGCCAGCCCCACCCGCACCC	0.677																																						uc003bbi.2																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|central_nervous_system(1)	4						c.(3139-3141)CCC>CCT		sterol regulatory element-binding transcription							25.0	28.0	27.0					22																	42300914		2194	4293	6487	SO:0001819	synonymous_variant	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42300914C>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.3141C>T	22.37:g.42300914C>T						WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA|SREBF2_uc003bbk.2_5'Flank	p.P1047P	NM_004599	NP_004590	Q12772	SRBP2_HUMAN			18	3310	+			1047			Cytoplasmic (Potential).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Silent	SNP	ENST00000361204.4	37	c.3141C>T	CCDS14023.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.354369	0.24512	.	.	ENSG00000198911	ENST00000435061	T	0.23754	1.89	5.57	-0.223	0.13118	.	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07424	-1.0773	7	0.87932	D	0	-27.1719	4.8576	0.13566	0.1464:0.3525:0.0:0.501	.	.	.	.	L	236	ENSP00000412287:P236L	ENSP00000412287:P236L	P	+	2	0	SREBF2	40630860	0.061000	0.20836	0.998000	0.56505	0.991000	0.79684	-0.566000	0.05922	0.038000	0.15604	0.561000	0.74099	CCA		PASS	0.677	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		3	12	3	12	---	---	---	---
ALG12	79087	broad.mit.edu	37	22	50307063	50307063	+	Nonsense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr22:50307063C>A	ENST00000330817.6	-	3	538	c.265G>T	c.(265-267)Gaa>Taa	p.E89*		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	89					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)	p.E89*(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TTGGACATTTCTAACAGCGAA	0.567																																						uc003biy.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(265-267)GAA>TAA		alpha-1,6-mannosyltransferase ALG12							93.0	91.0	91.0					22																	50307063		2203	4300	6503	SO:0001587	stop_gained	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50307063C>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.265G>T	22.37:g.50307063C>A	ENSP00000333813:p.Glu89*						p.E89*	NM_024105	NP_077010	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	3	539	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	89					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Nonsense_Mutation	SNP	ENST00000330817.6	37	c.265G>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770664	0.90108	.	.	ENSG00000182858	ENST00000330817	.	.	.	5.34	4.31	0.51392	.	0.507719	0.22076	N	0.064961	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-2.0443	8.9677	0.35887	0.0:0.6345:0.2845:0.081	.	.	.	.	X	89	.	ENSP00000333813:E89X	E	-	1	0	ALG12	48693067	0.352000	0.24895	0.005000	0.12908	0.179000	0.23085	1.459000	0.35234	1.237000	0.43756	0.591000	0.81541	GAA		PASS	0.567	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		4	121	4	121	---	---	---	---
LMF2	91289	broad.mit.edu	37	22	50943701	50943701	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr22:50943701C>T	ENST00000474879.2	-	8	1129	c.1114G>A	c.(1114-1116)Ggt>Agt	p.G372S	NCAPH2_ENST00000420993.2_5'Flank|LMF2_ENST00000216080.5_Missense_Mutation_p.G347S|NCAPH2_ENST00000299821.11_5'Flank|NCAPH2_ENST00000395698.3_5'Flank|LMF2_ENST00000505981.1_5'Flank|NCAPH2_ENST00000395701.3_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.G372S	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	372						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.G347S(1)		breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGGCCACACCCAGCCACACA	0.652																																						uc003blp.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1114-1116)GGT>AGT		lipase maturation factor 2							70.0	75.0	73.0					22																	50943701		2203	4300	6503	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50943701C>T	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.1114G>A	22.37:g.50943701C>T	ENSP00000424381:p.Gly372Ser					LMF2_uc010hba.2_Missense_Mutation_p.G194S|LMF2_uc003blo.2_Missense_Mutation_p.G347S|NCAPH2_uc003blq.3_5'Flank|NCAPH2_uc003blv.2_5'Flank|NCAPH2_uc003blr.3_5'Flank|NCAPH2_uc010hbb.2_5'Flank|NCAPH2_uc003blu.3_5'Flank|NCAPH2_uc003bls.3_5'Flank|NCAPH2_uc003blt.3_5'Flank|NCAPH2_uc003blw.3_5'Flank|NCAPH2_uc003blx.3_5'Flank|NCAPH2_uc003bly.3_5'Flank	p.G372S	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	8	1145	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	372			Helical; (Potential).		A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.1114G>A	CCDS14093.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.7|26.7	4.765204|4.765204	0.90020|0.90020	.|.	.|.	ENSG00000100258|ENSG00000100258	ENST00000487499|ENST00000380796;ENST00000474879;ENST00000216080	.|T;T;T	.|0.38240	.|1.15;1.84;1.84	4.73|4.73	4.73|4.73	0.59995|0.59995	.|.	0.115428|0.115428	0.56097|0.56097	D|D	0.000021|0.000021	T|T	0.61438|0.61438	0.2347|0.2347	M|M	0.85777|0.85777	2.775|2.775	0.50813|0.50813	D|D	0.999894|0.999894	.|D;D	.|0.65815	.|0.995;0.991	.|P;P	.|0.61874	.|0.863;0.895	T|T	0.69397|0.69397	-0.5156|-0.5156	6|10	.|0.72032	.|D	.|0.01	0.7028|0.7028	15.2084|15.2084	0.73198|0.73198	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|372;347	.|Q9BU23;Q9BU23-2	.|LMF2_HUMAN;.	E|S	378|372;372;347	.|ENSP00000370173:G372S;ENSP00000424381:G372S;ENSP00000216080:G347S	.|ENSP00000216080:G347S	G|G	-|-	2|1	0|0	LMF2|LMF2	49290567|49290567	0.951000|0.951000	0.32395|0.32395	0.918000|0.918000	0.36340|0.36340	0.960000|0.960000	0.62799|0.62799	3.576000|3.576000	0.53878|0.53878	2.162000|2.162000	0.67917|0.67917	0.655000|0.655000	0.94253|0.94253	GGG|GGT		PASS	0.652	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		5	89	5	89	---	---	---	---
STS	412	broad.mit.edu	37	X	7223186	7223186	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:7223186A>G	ENST00000217961.4	+	7	1278	c.1058A>G	c.(1057-1059)aAa>aGa	p.K353R		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	353					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.K353R(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GTGTCTTCCAAAGGAGAAATT	0.473									Ichthyosis																													uc004cry.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1057-1059)AAA>AGA		steryl-sulfatase precursor	Estrone(DB00655)						115.0	98.0	104.0					X																	7223186		2203	4299	6502	SO:0001583	missense	412	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity	g.chrX:7223186A>G	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.1058A>G	X.37:g.7223186A>G	ENSP00000217961:p.Lys353Arg						p.K353R	NM_000351	NP_000342	P08842	STS_HUMAN			7	1303	+		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)	353			Lumenal.		B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	c.1058A>G	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	A	0.520	-0.862523	0.02610	.	.	ENSG00000101846	ENST00000217961	D	0.93426	-3.22	3.58	-2.34	0.06704	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.778921	0.11319	N	0.576261	D	0.83353	0.5236	N	0.20881	0.62	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.67620	-0.5624	10	0.19590	T	0.45	.	4.0531	0.09804	0.4559:0.1886:0.3555:0.0	.	353	P08842	STS_HUMAN	R	353	ENSP00000217961:K353R	ENSP00000217961:K353R	K	+	2	0	STS	7233186	0.084000	0.21492	0.000000	0.03702	0.045000	0.14185	0.318000	0.19504	-0.905000	0.03871	0.417000	0.27973	AAA		PASS	0.473	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351		39	104	39	104	---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12938413	12938413	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:12938413C>T	ENST00000218032.6	+	2	1341	c.1254C>T	c.(1252-1254)tcC>tcT	p.S418S	TLR8_ENST00000311912.5_Silent_p.S436S	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	418					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)	p.S436S(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AAAATTTCTCCAATCTGGAAA	0.353																																						uc004cve.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(2)|large_intestine(1)	7						c.(1252-1254)TCC>TCT		toll-like receptor 8 precursor							49.0	54.0	52.0					X																	12938413		2199	4296	6495	SO:0001819	synonymous_variant	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12938413C>T	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.1254C>T	X.37:g.12938413C>T						TLR8_uc004cvd.2_Silent_p.S436S	p.S418S	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	1322	+			418			Extracellular (Potential).		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	ENST00000218032.6	37	c.1254C>T	CCDS14152.1																																																																																				PASS	0.353	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610		46	147	46	147	---	---	---	---
ASB11	140456	broad.mit.edu	37	X	15333585	15333585	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:15333585G>A	ENST00000480796.1	-	1	193	c.143C>T	c.(142-144)gCg>gTg	p.A48V	ASB11_ENST00000344384.4_5'Flank|ASB11_ENST00000537676.1_5'Flank|ASB11_ENST00000380470.3_Missense_Mutation_p.A48V			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11, E3 ubiquitin protein ligase	48					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.A48V(1)		breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					TATCCTAGCCGCTTCTTTTCT	0.308																																						uc004cwp.1																			1	Substitution - Missense(1)		lung(1)	breast(2)|skin(1)	3						c.(142-144)GCG>GTG		ankyrin repeat and SOCS box-containing protein							57.0	58.0	58.0					X																	15333585		2203	4297	6500	SO:0001583	missense	140456				intracellular signal transduction			g.chrX:15333585G>A	AF425642	CCDS14164.1, CCDS35209.1, CCDS56596.1	Xp22.31	2014-02-10	2014-02-10		ENSG00000165192	ENSG00000165192		"""Ankyrin repeat domain containing"""	17186	protein-coding gene	gene with protein product		300626	"""ankyrin repeat and SOCS box-containing 11"", ""ankyrin repeat and SOCS box containing 11"""			24337577	Standard	NM_080873		Approved	DKFZp779E2460	uc004cwp.2	Q8WXH4	OTTHUMG00000021173	ENST00000480796.1:c.143C>T	X.37:g.15333585G>A	ENSP00000417914:p.Ala48Val					ASB11_uc004cwo.1_5'Flank|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.A48V	p.A48V	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN			1	143	-	Hepatocellular(33;0.183)		48					E9PEN1|Q3SYC4|Q7Z667	Missense_Mutation	SNP	ENST00000480796.1	37	c.143C>T	CCDS14164.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077057	0.76415	.	.	ENSG00000165192	ENST00000380470;ENST00000480796	T;T	0.46451	0.87;0.87	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000007	T	0.62877	0.2464	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.986	T	0.63825	-0.6549	10	0.52906	T	0.07	-13.0919	17.2524	0.87046	0.0:0.0:1.0:0.0	.	48;48	Q7Z667;Q8WXH4	.;ASB11_HUMAN	V	48	ENSP00000369837:A48V;ENSP00000417914:A48V	ENSP00000369837:A48V	A	-	2	0	ASB11	15243506	1.000000	0.71417	0.972000	0.41901	0.778000	0.44026	8.210000	0.89753	2.286000	0.76751	0.513000	0.50165	GCG		PASS	0.308	ASB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055852.2			11	170	11	170	---	---	---	---
BEND2	139105	broad.mit.edu	37	X	18183311	18183311	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:18183311G>T	ENST00000380033.4	-	14	2350	c.2218C>A	c.(2218-2220)Ctc>Atc	p.L740I		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	740	BEN 2. {ECO:0000255|PROSITE- ProRule:PRU00784}.							p.L740I(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTTTCCGAGAGATCACAAATT	0.443																																						uc004cyj.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2218-2220)CTC>ATC		BEN domain containing 2							139.0	128.0	132.0					X																	18183311		2203	4300	6503	SO:0001583	missense	139105							g.chrX:18183311G>T	AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.2218C>A	X.37:g.18183311G>T	ENSP00000369372:p.Leu740Ile						p.L740I	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN			14	2372	-			740			BEN 2.		E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	c.2218C>A	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064661	0.55432	.	.	ENSG00000177324	ENST00000380033	T	0.38722	1.12	5.69	1.94	0.25998	BEN domain (2);	0.111775	0.37095	N	0.002260	T	0.56558	0.1993	M	0.75777	2.31	0.20307	N	0.999914	D	0.89917	1.0	D	0.76071	0.987	T	0.48019	-0.9071	10	0.62326	D	0.03	-5.2202	4.7655	0.13130	0.335:0.1462:0.5188:0.0	.	740	Q8NDZ0	BEND2_HUMAN	I	740	ENSP00000369372:L740I	ENSP00000369372:L740I	L	-	1	0	BEND2	18093232	0.982000	0.34865	0.000000	0.03702	0.006000	0.05464	1.832000	0.39151	-0.034000	0.13713	-0.498000	0.04607	CTC		PASS	0.443	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346		65	223	65	223	---	---	---	---
SCML2	10389	broad.mit.edu	37	X	18264872	18264872	+	Silent	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:18264872T>A	ENST00000251900.4	-	13	1806	c.1647A>T	c.(1645-1647)ctA>ctT	p.L549L	SCML2_ENST00000398048.3_Silent_p.L285L	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	549					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L549L(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTCCTGAATTTAGTGATGAGC	0.418																																					Esophageal Squamous(100;1252 1965 19021 35517)	uc004cyl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1645-1647)CTA>CTT		sex comb on midleg-like 2							84.0	90.0	88.0					X																	18264872		2203	4300	6503	SO:0001819	synonymous_variant	10389				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:18264872T>A	Y18004	CCDS14185.1	Xp22	2013-01-10	2001-11-28		ENSG00000102098	ENSG00000102098		"""Sterile alpha motif (SAM) domain containing"""	10581	protein-coding gene	gene with protein product		300208	"""sex comb on midleg (Drosophila)-like 2"""			10331946	Standard	NM_006089		Approved		uc004cyl.2	Q9UQR0	OTTHUMG00000021212	ENST00000251900.4:c.1647A>T	X.37:g.18264872T>A						SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Silent_p.L549L|SCML2_uc011miz.1_Silent_p.L483L|SCML2_uc010nfc.2_Silent_p.L285L	p.L549L	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN			13	1804	-	Hepatocellular(33;0.183)		549					Q5JXE6|Q86U98|Q8IWD0|Q8NDP2|Q9UGC5	Silent	SNP	ENST00000251900.4	37	c.1647A>T	CCDS14185.1	.	.	.	.	.	.	.	.	.	.	T	5.000	0.185763	0.09495	.	.	ENSG00000102098	ENST00000420857	.	.	.	5.84	-6.49	0.01890	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.0847	0.09942	0.3654:0.4138:0.0945:0.1262	.	.	.	.	L	65	.	.	X	-	2	2	SCML2	18174793	0.537000	0.26386	0.000000	0.03702	0.001000	0.01503	-0.174000	0.09839	-1.413000	0.02027	-0.323000	0.08544	TAA		PASS	0.418	SCML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055941.1	NM_006089		52	182	52	182	---	---	---	---
PTCHD1	139411	broad.mit.edu	37	X	23398156	23398156	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:23398156T>A	ENST00000379361.4	+	2	1660	c.800T>A	c.(799-801)gTa>gAa	p.V267E		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	267					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.V162E(1)|p.V267E(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACCAGCCGCGTATCAGAACGT	0.522																																						uc004dal.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|kidney(1)|skin(1)	6						c.(799-801)GTA>GAA		patched domain containing 1							177.0	152.0	161.0					X																	23398156		2203	4300	6503	SO:0001583	missense	139411				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity	g.chrX:23398156T>A	AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.800T>A	X.37:g.23398156T>A	ENSP00000368666:p.Val267Glu					PTCHD1_uc010nfu.1_Missense_Mutation_p.V267E	p.V267E	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN			2	808	+			267					B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	ENST00000379361.4	37	c.800T>A	CCDS35215.2	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101984	0.76983	.	.	ENSG00000165186	ENST00000379361	D	0.84589	-1.87	4.86	4.86	0.63082	.	0.064498	0.64402	D	0.000010	D	0.83686	0.5308	L	0.34521	1.04	0.46701	D	0.999165	D;B	0.56968	0.978;0.002	P;B	0.58266	0.836;0.005	T	0.79699	-0.1694	10	0.06625	T	0.88	.	13.8052	0.63225	0.0:0.0:0.0:1.0	.	162;267	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	E	267	ENSP00000368666:V267E	ENSP00000368666:V267E	V	+	2	0	PTCHD1	23308077	1.000000	0.71417	0.660000	0.29694	0.949000	0.60115	7.482000	0.81143	1.903000	0.55091	0.486000	0.48141	GTA		PASS	0.522	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495		38	141	38	141	---	---	---	---
PCYT1B	9468	broad.mit.edu	37	X	24625900	24625900	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:24625900G>A	ENST00000379144.2	-	3	426	c.296C>T	c.(295-297)gCa>gTa	p.A99V	PCYT1B_ENST00000379145.1_Missense_Mutation_p.A81V|PCYT1B_ENST00000356768.4_Missense_Mutation_p.A99V	NM_004845.4	NP_004836.2	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	99					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|ovarian follicle development (GO:0001541)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)	choline-phosphate cytidylyltransferase activity (GO:0004105)	p.A99V(2)|p.A81V(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CAGTGTTTTTGCTTGCATAAG	0.423																																						uc004dbi.2																			3	Substitution - Missense(3)		lung(3)		0						c.(295-297)GCA>GTA		choline phosphate cytidylyltransferase 1 beta	Choline(DB00122)						93.0	88.0	90.0					X																	24625900		2203	4300	6503	SO:0001583	missense	9468					endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	g.chrX:24625900G>A	AF052510	CCDS14213.1, CCDS55391.1, CCDS55392.1	Xp22	2008-02-05	2005-09-05		ENSG00000102230	ENSG00000102230	2.7.7.15		8755	protein-coding gene	gene with protein product		604926	"""phosphate cytidylyltransferase 1, choline, beta isoform"""			9593753	Standard	NM_004845		Approved	CCT-beta, CTB	uc004dbi.3	Q9Y5K3	OTTHUMG00000021270	ENST00000379144.2:c.296C>T	X.37:g.24625900G>A	ENSP00000368439:p.Ala99Val					PCYT1B_uc004dbk.3_Missense_Mutation_p.A99V|PCYT1B_uc004dbj.2_Missense_Mutation_p.A81V	p.A99V	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN			3	529	-			99			Catalytic (Potential).		A8IX00|B2RCX8|B4DK10|E9PD84|O60621|Q86XC9	Missense_Mutation	SNP	ENST00000379144.2	37	c.296C>T	CCDS14213.1	.	.	.	.	.	.	.	.	.	.	G	32	5.132821	0.94517	.	.	ENSG00000102230	ENST00000379145;ENST00000379144;ENST00000356768	D;D;D	0.97811	-4.55;-4.55;-4.55	5.19	5.19	0.71726	Cytidylyltransferase (1);Rossmann-like alpha/beta/alpha sandwich fold (1);Cytidyltransferase-related (1);	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.997	D;P;P	0.63703	0.917;0.88;0.88	D	0.99541	1.0963	10	0.62326	D	0.03	-19.5742	17.8268	0.88668	0.0:0.0:1.0:0.0	.	99;81;99	Q9Y5K3-2;E9PD84;Q9Y5K3	.;.;PCY1B_HUMAN	V	81;99;99	ENSP00000368440:A81V;ENSP00000368439:A99V;ENSP00000349211:A99V	ENSP00000349211:A99V	A	-	2	0	PCYT1B	24535821	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.263000	0.95617	2.398000	0.81561	0.544000	0.68410	GCA		PASS	0.423	PCYT1B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056103.1	NM_004845		14	33	14	33	---	---	---	---
TAB3	257397	broad.mit.edu	37	X	30872797	30872797	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:30872797G>T	ENST00000378933.1	-	3	1162	c.985C>A	c.(985-987)Cca>Aca	p.P329T	TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378932.2_Missense_Mutation_p.P329T|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.P329T|TAB3_ENST00000288422.2_Missense_Mutation_p.P329T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	329	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)	p.P329T(1)		NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGATGGGGTGGAGTAGTTGAA	0.478																																					Pancreas(164;1598 1985 29022 43301 49529)	uc004dcj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(985-987)CCA>ACA		mitogen-activated protein kinase kinase kinase 7							145.0	120.0	128.0					X																	30872797		2202	4300	6502	SO:0001583	missense	257397				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein binding|zinc ion binding	g.chrX:30872797G>T	AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.985C>A	X.37:g.30872797G>T	ENSP00000368215:p.Pro329Thr					TAB3_uc004dck.2_Missense_Mutation_p.P329T|TAB3_uc010ngl.2_Missense_Mutation_p.P329T	p.P329T	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN			6	1648	-			329			Pro-rich.		A6NDD9|Q6VQR0	Missense_Mutation	SNP	ENST00000378933.1	37	c.985C>A	CCDS14226.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721463	0.30503	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.06	5.06	4.18	0.49190	.	0.099834	0.64402	D	0.000001	T	0.65678	0.2714	L	0.34521	1.04	0.43550	D	0.995856	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.61481	-0.7054	10	0.59425	D	0.04	-0.2541	7.9531	0.30027	0.0828:0.0:0.7563:0.1608	.	329;329	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	T	329	ENSP00000368215:P329T;ENSP00000368212:P329T;ENSP00000288422:P329T;ENSP00000368214:P329T	ENSP00000288422:P329T	P	-	1	0	TAB3	30782718	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.224000	0.51238	0.996000	0.38943	0.538000	0.68166	CCA		PASS	0.478	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056173.1	NM_152787		15	85	15	85	---	---	---	---
DMD	1756	broad.mit.edu	37	X	31525435	31525435	+	Nonsense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:31525435T>A	ENST00000357033.4	-	56	8559	c.8353A>T	c.(8353-8355)Aag>Tag	p.K2785*	DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.K2781*|DMD_ENST00000343523.2_Nonsense_Mutation_p.K325*|DMD_ENST00000378707.3_Nonsense_Mutation_p.K325*|DMD_ENST00000541735.1_Nonsense_Mutation_p.K325*|DMD_ENST00000474231.1_Nonsense_Mutation_p.K325*|DMD_ENST00000359836.1_Nonsense_Mutation_p.K325*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2785					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.K2785*(1)|p.K1444*(1)|p.K325*(1)|p.K2781*(1)|p.K2780*(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCACTCCACTTGAAGTTCATG	0.398																																						uc004dda.1																			5	Substitution - Nonsense(5)		lung(5)	ovary(3)|pancreas(2)|large_intestine(1)	6						c.(8353-8355)AAG>TAG		dystrophin Dp427m isoform							182.0	149.0	160.0					X																	31525435		2202	4300	6502	SO:0001587	stop_gained	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:31525435T>A	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8353A>T	X.37:g.31525435T>A	ENSP00000354923:p.Lys2785*					DMD_uc004dcq.1_Nonsense_Mutation_p.K56*|DMD_uc004dcr.1_Nonsense_Mutation_p.K325*|DMD_uc004dcs.1_Nonsense_Mutation_p.K325*|DMD_uc004dct.1_Nonsense_Mutation_p.K325*|DMD_uc004dcu.1_Nonsense_Mutation_p.K325*|DMD_uc004dcv.1_Nonsense_Mutation_p.K325*|DMD_uc004dcw.2_Nonsense_Mutation_p.K1441*|DMD_uc004dcx.2_Nonsense_Mutation_p.K1444*|DMD_uc004dcz.2_Nonsense_Mutation_p.K2662*|DMD_uc004dcy.1_Nonsense_Mutation_p.K2781*|DMD_uc004ddb.1_Nonsense_Mutation_p.K2777*	p.K2785*	NM_004006	NP_003997	P11532	DMD_HUMAN			56	8597	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	2785			Spectrin 19.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	c.8353A>T	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	51|51	18.180072|18.180072	0.99900|0.99900	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	.|.	.|.	.|.	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	0.182612|.	0.25250|.	U|.	0.032037|.	.|T	.|0.67515	.|0.2901	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71351	.|-0.4619	.|3	0.31617|.	T|.	0.26|.	.|.	14.9992|14.9992	0.71459|0.71459	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	X|L	2777;1444;1441;481;2781;2785;325;325;2785;2662;325;325;325|513	.|.	ENSP00000340057:K325X|.	K|Q	-|-	1|2	0|0	DMD|DMD	31435356|31435356	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.269000|5.269000	0.65542|0.65542	1.924000|1.924000	0.55735|0.55735	0.481000|0.481000	0.45027|0.45027	AAG|CAA		PASS	0.398	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		44	106	44	106	---	---	---	---
PRRG1	5638	broad.mit.edu	37	X	37312654	37312654	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:37312654C>G	ENST00000542554.1	+	5	709	c.437C>G	c.(436-438)cCa>cGa	p.P146R	PRRG1_ENST00000491253.1_3'UTR|PRRG1_ENST00000378628.4_Missense_Mutation_p.P146R|TM4SF2_ENST00000465127.1_Intron|PRRG1_ENST00000543642.1_Missense_Mutation_p.P146R|PRRG1_ENST00000449135.2_Missense_Mutation_p.P146R	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1	146						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P146R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						GGATTGTCTCCAGGCTTTCTG	0.532																																						uc004ddn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(436-438)CCA>CGA		proline rich Gla (G-carboxyglutamic acid) 1							114.0	108.0	110.0					X																	37312654		2202	4300	6502	SO:0001583	missense	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37312654C>G	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.437C>G	X.37:g.37312654C>G	ENSP00000444278:p.Pro146Arg					PRRG1_uc004ddo.2_Missense_Mutation_p.P146R	p.P146R	NM_000950	NP_000941	O14668	TMG1_HUMAN			5	690	+			146			Cytoplasmic (Potential).		B2R7A3|C9JXL7|D3DWA9|Q5JT66	Missense_Mutation	SNP	ENST00000542554.1	37	c.437C>G	CCDS14239.1	.	.	.	.	.	.	.	.	.	.	C	19.16	3.773661	0.69992	.	.	ENSG00000130962	ENST00000378628;ENST00000466533;ENST00000542554;ENST00000543642;ENST00000449135	D;D;D;D;D	0.99245	-5.15;-5.62;-5.15;-5.15;-5.15	6.16	6.16	0.99307	.	0.104330	0.64402	D	0.000003	D	0.98108	0.9376	N	0.03608	-0.345	0.47214	D	0.99935	D	0.69078	0.997	D	0.64237	0.923	D	0.99942	1.1426	10	0.72032	D	0.01	-4.8074	18.1498	0.89671	0.0:1.0:0.0:0.0	.	146	O14668	TMG1_HUMAN	R	146	ENSP00000367894:P146R;ENSP00000418384:P146R;ENSP00000444278:P146R;ENSP00000443271:P146R;ENSP00000390332:P146R	ENSP00000367894:P146R	P	+	2	0	PRRG1	37197575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.238000	0.51352	2.614000	0.88457	0.594000	0.82650	CCA		PASS	0.532	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950		28	130	28	130	---	---	---	---
SLC9A7	84679	broad.mit.edu	37	X	46510819	46510819	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:46510819A>G	ENST00000328306.4	-	9	1190	c.1165T>C	c.(1165-1167)Tgt>Cgt	p.C389R		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	389					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)	p.C389R(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GTGATTCCACAGAAAAGGACA	0.423																																					Pancreas(118;454 1696 1930 13865 39976)	uc004dgu.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1165-1167)TGT>CGT		solute carrier family 9, member 7							138.0	126.0	130.0					X																	46510819		2203	4300	6503	SO:0001583	missense	84679				regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity	g.chrX:46510819A>G	AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1165T>C	X.37:g.46510819A>G	ENSP00000330320:p.Cys389Arg						p.C389R	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN			9	1173	-			389			Helical; (Potential).		O75827|Q5JXP9	Missense_Mutation	SNP	ENST00000328306.4	37	c.1165T>C	CCDS14269.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.060909	0.76074	.	.	ENSG00000065923	ENST00000328306	T	0.16743	2.32	5.7	5.7	0.88788	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.56321	0.1977	H	0.96239	3.79	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71735	-0.4503	10	0.87932	D	0	.	14.9675	0.71204	1.0:0.0:0.0:0.0	.	389	Q96T83	SL9A7_HUMAN	R	389	ENSP00000330320:C389R	ENSP00000330320:C389R	C	-	1	0	SLC9A7	46395763	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.859000	0.92264	1.917000	0.55516	0.486000	0.48141	TGT		PASS	0.423	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591		15	171	15	171	---	---	---	---
JADE3	9767	broad.mit.edu	37	X	46917713	46917713	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:46917713G>T	ENST00000218343.4	+	11	2004	c.1706G>T	c.(1705-1707)aGc>aTc	p.S569I	PHF16_ENST00000397189.1_Missense_Mutation_p.S569I	NM_014735.3	NP_055550.1												p.S569I(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TCTCCTGACAGCAGCTCATCT	0.463																																						uc004dgx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1705-1707)AGC>ATC		PHD finger protein 16							109.0	89.0	95.0					X																	46917713		2203	4300	6503	SO:0001583	missense	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46917713G>T																												ENST00000218343.4:c.1706G>T	X.37:g.46917713G>T	ENSP00000218343:p.Ser569Ile					PHF16_uc004dgy.2_Missense_Mutation_p.S569I	p.S569I	NM_001077445	NP_001070913	Q92613	JADE3_HUMAN			11	1757	+			569						Missense_Mutation	SNP	ENST00000218343.4	37	c.1706G>T	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	10.31	1.313791	0.23908	.	.	ENSG00000102221	ENST00000397189;ENST00000218343	T;T	0.53206	0.63;0.63	5.88	3.18	0.36537	.	0.978907	0.08361	N	0.957712	T	0.36138	0.0956	N	0.24115	0.695	0.29503	N	0.854784	B	0.33448	0.412	B	0.34722	0.188	T	0.33752	-0.9856	10	0.45353	T	0.12	.	9.2633	0.37625	0.3131:0.0:0.6869:0.0	.	569	Q92613	JADE3_HUMAN	I	569	ENSP00000380373:S569I;ENSP00000218343:S569I	ENSP00000218343:S569I	S	+	2	0	PHF16	46802657	1.000000	0.71417	0.002000	0.10522	0.768000	0.43524	2.946000	0.49050	0.635000	0.30488	0.600000	0.82982	AGC		PASS	0.463	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			11	64	11	64	---	---	---	---
USP11	8237	broad.mit.edu	37	X	47100995	47100995	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:47100995A>T	ENST00000218348.3	+	9	1205	c.1205A>T	c.(1204-1206)cAg>cTg	p.Q402L	USP11_ENST00000377107.2_Missense_Mutation_p.Q359L	NM_004651.3	NP_004642.2	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	402	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.Q402L(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CATGACTCTCAGGAGCTGCTG	0.537																																						uc004dhp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|central_nervous_system(1)	3						c.(1204-1206)CAG>CTG		ubiquitin specific peptidase 11							115.0	96.0	102.0					X																	47100995		2203	4300	6503	SO:0001583	missense	8237				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrX:47100995A>T	U44839	CCDS14277.1	Xp11.23	2008-02-05	2005-08-08		ENSG00000102226	ENSG00000102226		"""Ubiquitin-specific peptidases"""	12609	protein-coding gene	gene with protein product		300050	"""ubiquitin specific protease 11"""			12838346	Standard	XM_005272674		Approved	UHX1	uc004dhp.3	P51784	OTTHUMG00000021437	ENST00000218348.3:c.1205A>T	X.37:g.47100995A>T	ENSP00000218348:p.Gln402Leu					USP11_uc004dhq.2_Missense_Mutation_p.Q129L	p.Q402L	NM_004651	NP_004642	P51784	UBP11_HUMAN			9	1205	+			402					B2RTX1|Q8IUG6|Q9BWE1	Missense_Mutation	SNP	ENST00000218348.3	37	c.1205A>T	CCDS14277.1	.	.	.	.	.	.	.	.	.	.	A	22.9	4.356162	0.82243	.	.	ENSG00000102226	ENST00000377107;ENST00000218348;ENST00000377078	T;T;T	0.32988	1.43;1.43;1.43	5.36	5.36	0.76844	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	M	0.80422	2.495	0.58432	D	0.999991	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.997	T	0.63576	-0.6606	10	0.87932	D	0	-21.5869	13.3312	0.60488	1.0:0.0:0.0:0.0	.	129;402	B3KP28;P51784	.;UBP11_HUMAN	L	359;402;129	ENSP00000366311:Q359L;ENSP00000218348:Q402L;ENSP00000366279:Q129L	ENSP00000218348:Q402L	Q	+	2	0	USP11	46985939	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	9.281000	0.95811	1.790000	0.52503	0.486000	0.48141	CAG		PASS	0.537	USP11-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_004651		7	102	7	102	---	---	---	---
PLP2	5355	broad.mit.edu	37	X	49029582	49029582	+	Missense_Mutation	SNP	T	T	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:49029582T>G	ENST00000376327.5	+	2	278	c.203T>G	c.(202-204)aTg>aGg	p.M68R	PLP2_ENST00000376322.3_Missense_Mutation_p.M68R	NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	68	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chemokine binding (GO:0019956)|ion transmembrane transporter activity (GO:0015075)	p.M68R(1)		endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GTTGTCTACATGTGTGACCTG	0.522																																						uc004dmx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(202-204)ATG>AGG		proteolipid protein 2 (colonic							193.0	128.0	150.0					X																	49029582		2203	4300	6503	SO:0001583	missense	5355				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity	g.chrX:49029582T>G	L09604	CCDS14319.1	Xp11.23	2008-08-01			ENSG00000102007	ENSG00000102007			9087	protein-coding gene	gene with protein product	"""A4 differentiation-dependent protein"""	300112				8470895, 7622043	Standard	NM_002668		Approved	A4, A4-LSB, MGC126187	uc004dmx.3	Q04941	OTTHUMG00000021513	ENST00000376327.5:c.203T>G	X.37:g.49029582T>G	ENSP00000365505:p.Met68Arg						p.M68R	NM_002668	NP_002659	Q04941	PLP2_HUMAN			2	278	+			68			Helical; (Potential).|MARVEL.		A6NDT7|Q32MM8	Missense_Mutation	SNP	ENST00000376327.5	37	c.203T>G	CCDS14319.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436934	0.62955	.	.	ENSG00000102007	ENST00000376322;ENST00000376327	T;T	0.26373	1.74;1.74	5.34	4.13	0.48395	Marvel (1);MARVEL-like domain (1);	0.135320	0.64402	D	0.000004	T	0.32346	0.0826	M	0.74881	2.28	0.43988	D	0.996687	P	0.50369	0.934	P	0.46629	0.522	T	0.08289	-1.0729	10	0.66056	D	0.02	-19.5769	6.582	0.22600	0.0:0.1929:0.0:0.8071	.	68	Q04941	PLP2_HUMAN	R	68	ENSP00000365500:M68R;ENSP00000365505:M68R	ENSP00000365500:M68R	M	+	2	0	PLP2	48916526	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.996000	0.49449	0.650000	0.30769	0.481000	0.45027	ATG		PASS	0.522	PLP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056540.1	NM_002668		6	60	6	60	---	---	---	---
CLCN5	1184	broad.mit.edu	37	X	49851292	49851292	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:49851292C>A	ENST00000307367.2	+	8	1403	c.1112C>A	c.(1111-1113)gCt>gAt	p.A371D	CLCN5_ENST00000376108.3_Missense_Mutation_p.A371D|CLCN5_ENST00000376091.3_Missense_Mutation_p.A441D|CLCN5_ENST00000376088.3_Missense_Mutation_p.A441D			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	371					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.A441D(1)|p.A371D(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GCCATCCTGGCTTTCCCCAAT	0.502																																						uc004dos.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|central_nervous_system(1)	4						c.(1111-1113)GCT>GAT		chloride channel 5 isoform b							108.0	92.0	97.0					X																	49851292		2203	4300	6503	SO:0001583	missense	1184				excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding	g.chrX:49851292C>A	X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1112C>A	X.37:g.49851292C>A	ENSP00000304257:p.Ala371Asp					CLCN5_uc004dor.1_Missense_Mutation_p.A441D|CLCN5_uc004doq.1_Missense_Mutation_p.A441D|CLCN5_uc004dot.1_Missense_Mutation_p.A371D	p.A371D	NM_000084	NP_000075	P51795	CLCN5_HUMAN			8	1360	+	Ovarian(276;0.236)		371			Helical; (By similarity).		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	c.1112C>A	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.884559	0.91814	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.94966	-3.57;-3.57;-3.57;-3.57	5.7	5.7	0.88788	Chloride channel, core (2);	0.092268	0.85682	D	0.000000	D	0.96632	0.8901	M	0.85462	2.755	0.80722	D	1	P;D	0.57257	0.923;0.979	P;P	0.54270	0.616;0.747	D	0.96680	0.9503	10	0.52906	T	0.07	-1.0908	17.5228	0.87792	0.0:1.0:0.0:0.0	.	371;441	P51795;P51795-2	CLCN5_HUMAN;.	D	441;273;441;371;371	ENSP00000365256:A441D;ENSP00000365259:A441D;ENSP00000365276:A371D;ENSP00000304257:A371D	ENSP00000304257:A371D	A	+	2	0	CLCN5	49738032	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.692000	0.84203	2.408000	0.81797	0.436000	0.28706	GCT		PASS	0.502	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			4	77	4	77	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50089751	50089751	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:50089751T>A	ENST00000376042.1	+	10	4053	c.3755T>A	c.(3754-3756)cTc>cAc	p.L1252H	CCNB3_ENST00000376038.1_Missense_Mutation_p.L148H|CCNB3_ENST00000348603.2_Missense_Mutation_p.L148H|CCNB3_ENST00000276014.7_Missense_Mutation_p.L1252H			Q8WWL7	CCNB3_HUMAN	cyclin B3	1252					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.L1252H(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTGAACGTCCTCAAATGTGAC	0.443																																						uc004dox.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(3754-3756)CTC>CAC		cyclin B3 isoform 3							224.0	153.0	177.0					X																	50089751		2203	4300	6503	SO:0001583	missense	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50089751T>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.3755T>A	X.37:g.50089751T>A	ENSP00000365210:p.Leu1252His					CCNB3_uc004doy.2_Missense_Mutation_p.L1252H|CCNB3_uc004doz.2_Missense_Mutation_p.L148H|CCNB3_uc010njq.2_Missense_Mutation_p.L144H|CCNB3_uc004dpa.2_Missense_Mutation_p.L91H	p.L1252H	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			10	4053	+	Ovarian(276;0.236)		1252					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	c.3755T>A	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.100817	0.37048	.	.	ENSG00000147082	ENST00000376042;ENST00000376038;ENST00000348603;ENST00000276014	T;T;T;T	0.51574	0.7;0.7;0.7;0.7	5.01	3.8	0.43715	Cyclin, N-terminal (1);Cyclin-like (2);	0.212397	0.41001	D	0.000979	T	0.78117	0.4233	H	0.98089	4.145	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.998	T	0.82030	-0.0659	9	.	.	.	.	10.2651	0.43449	0.0:0.0:0.1644:0.8356	.	1252;148;1252	A8K8T9;Q8WWL7-2;Q8WWL7	.;.;CCNB3_HUMAN	H	1252;148;148;1252	ENSP00000365210:L1252H;ENSP00000365206:L148H;ENSP00000338682:L148H;ENSP00000276014:L1252H	.	L	+	2	0	CCNB3	50106491	1.000000	0.71417	0.017000	0.16124	0.070000	0.16714	6.766000	0.74970	0.632000	0.30432	0.435000	0.28638	CTC		PASS	0.443	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			8	59	8	59	---	---	---	---
GSPT2	23708	broad.mit.edu	37	X	51487832	51487832	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:51487832G>T	ENST00000340438.4	+	1	1352	c.1110G>T	c.(1108-1110)ctG>ctT	p.L370L		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	370	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)	p.L370L(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AAGAAAAACTGGTGCCCTTTT	0.383																																						uc004dpl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1108-1110)CTG>CTT		peptide chain release factor 3							51.0	48.0	49.0					X																	51487832		2203	4300	6503	SO:0001819	synonymous_variant	23708				cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding	g.chrX:51487832G>T	AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.1110G>T	X.37:g.51487832G>T							p.L370L	NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN			1	1336	+	Ovarian(276;0.236)		370					Q9H909|Q9NVY0|Q9NY44	Silent	SNP	ENST00000340438.4	37	c.1110G>T	CCDS14336.1																																																																																				PASS	0.383	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056587.1			20	43	20	43	---	---	---	---
SPANXN5	494197	broad.mit.edu	37	X	52825621	52825621	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:52825621C>A	ENST00000375511.3	-	2	878	c.126G>T	c.(124-126)aaG>aaT	p.K42N		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	42								p.K42N(1)		large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					ATGTTTTCATCTTTTTCAAAC	0.393																																						uc004drc.1																			1	Substitution - Missense(1)		lung(1)		0						c.(124-126)AAG>AAT		SPANX family, member N5							200.0	169.0	179.0					X																	52825621		2203	4300	6503	SO:0001583	missense	494197							g.chrX:52825621C>A		CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.126G>T	X.37:g.52825621C>A	ENSP00000364661:p.Lys42Asn						p.K42N	NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN			2	126	-	Ovarian(276;0.236)		42						Missense_Mutation	SNP	ENST00000375511.3	37	c.126G>T	CCDS35295.1	.	.	.	.	.	.	.	.	.	.	c	3.411	-0.120258	0.06838	.	.	ENSG00000204363	ENST00000375511	T	0.15372	2.43	0.199	0.199	0.15175	.	.	.	.	.	T	0.12178	0.0296	.	.	.	0.09310	N	1	B	0.21688	0.059	B	0.21917	0.037	T	0.29941	-0.9995	7	0.56958	D	0.05	.	.	.	.	.	42	Q5MJ07	SPXN5_HUMAN	N	42	ENSP00000364661:K42N	ENSP00000364661:K42N	K	-	3	2	SPANXN5	52842346	0.106000	0.21978	0.016000	0.15963	0.016000	0.09150	0.192000	0.17096	0.282000	0.22254	0.287000	0.19450	AAG		PASS	0.393	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056690.2	NM_001009616		29	118	29	118	---	---	---	---
XAGE3	170626	broad.mit.edu	37	X	52895512	52895512	+	Missense_Mutation	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:52895512G>A	ENST00000346279.3	-	3	207	c.137C>T	c.(136-138)cCt>cTt	p.P46L	XAGE3_ENST00000375491.3_Missense_Mutation_p.P46L	NM_133179.2	NP_573440.1	Q8WTP9	XAGE3_HUMAN	X antigen family, member 3	46								p.P46L(1)		kidney(1)|large_intestine(1)|lung(2)	4						ACCAGGTGCAGGATCCCGACT	0.552																																						uc004dre.2																			1	Substitution - Missense(1)		lung(1)		0						c.(136-138)CCT>CTT		XAGE-3 protein							117.0	95.0	102.0					X																	52895512		2203	4300	6503	SO:0001583	missense	170626							g.chrX:52895512G>A	BG354572	CCDS14347.1	Xp11.22	2010-09-27	2004-06-07	2005-01-27	ENSG00000171402	ENSG00000171402			14618	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 3a"", ""cancer/testis antigen family 12, member 3b"""	300740	"""placenta-specific 6; G antigen, family D, 4"""	PLAC6, GAGED4			Standard	NM_133179		Approved	XAGE-3, pp9012, CT12.3a, CT12.3b	uc004dre.3	Q8WTP9	OTTHUMG00000021587	ENST00000346279.3:c.137C>T	X.37:g.52895512G>A	ENSP00000303061:p.Pro46Leu					XAGE3_uc004drf.2_Missense_Mutation_p.P46L	p.P46L	NM_130776	NP_570132	Q8WTP9	GAGD4_HUMAN			3	197	-			46					Q5JS82|Q8WYS9	Missense_Mutation	SNP	ENST00000346279.3	37	c.137C>T	CCDS14347.1	.	.	.	.	.	.	.	.	.	.	g	3.400	-0.122457	0.06795	.	.	ENSG00000171402	ENST00000375491;ENST00000346279	T;T	0.09630	2.96;2.96	1.29	0.0367	0.14193	.	.	.	.	.	T	0.11024	0.0269	M	0.74881	2.28	0.09310	N	1	B	0.31413	0.322	B	0.34824	0.19	T	0.39251	-0.9623	9	0.10377	T	0.69	.	2.9581	0.05883	0.6625:0.0:0.3375:0.0	.	46	Q8WTP9	GAGD4_HUMAN	L	46	ENSP00000364640:P46L;ENSP00000303061:P46L	ENSP00000303061:P46L	P	-	2	0	XAGE3	52912237	0.036000	0.19791	0.000000	0.03702	0.023000	0.10783	0.011000	0.13264	-0.048000	0.13401	-0.444000	0.05651	CCT		PASS	0.552	XAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056686.1	NM_133179		31	95	31	95	---	---	---	---
GPR173	54328	broad.mit.edu	37	X	53105956	53105956	+	Silent	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:53105956T>C	ENST00000332582.4	+	2	644	c.153T>C	c.(151-153)cgT>cgC	p.R51R		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	51					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)	p.R51R(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						TCAAGGAGCGTGCCCTGCACA	0.597																																						uc004dru.2																			2	Substitution - coding silent(2)		lung(2)	skin(1)	1						c.(151-153)CGT>CGC		G protein-coupled receptor 173							106.0	72.0	83.0					X																	53105956		2203	4300	6503	SO:0001819	synonymous_variant	54328					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:53105956T>C	AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.153T>C	X.37:g.53105956T>C							p.R51R	NM_018969	NP_061842	Q9NS66	GP173_HUMAN			2	411	+			51			Cytoplasmic (Potential).		B1B0A5	Silent	SNP	ENST00000332582.4	37	c.153T>C	CCDS14349.1																																																																																				PASS	0.597	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969		8	48	8	48	---	---	---	---
APEX2	27301	broad.mit.edu	37	X	55028746	55028746	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:55028746C>A	ENST00000374987.3	+	3	370	c.304C>A	c.(304-306)Ctg>Atg	p.L102M	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	102					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)	p.L102M(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CCTGAGTGGCCTGTTTGCCAC	0.562								Other BER factors																														uc004dtz.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(304-306)CTG>ATG	Other_BER_factors	apurinic/apyrimidinic endonuclease 2							101.0	80.0	87.0					X																	55028746		2203	4300	6503	SO:0001583	missense	27301				cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	g.chrX:55028746C>A	AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.304C>A	X.37:g.55028746C>A	ENSP00000364126:p.Leu102Met					APEX2_uc011mom.1_Intron	p.L102M	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN			3	380	+			102					Q9Y5X7	Missense_Mutation	SNP	ENST00000374987.3	37	c.304C>A	CCDS14365.1	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995488	0.54147	.	.	ENSG00000169188	ENST00000374987	D	0.82081	-1.57	5.27	-0.954	0.10359	Endonuclease/exonuclease/phosphatase (2);	0.237767	0.35838	N	0.002957	T	0.74068	0.3668	L	0.43152	1.355	0.34357	D	0.690558	P	0.37548	0.599	B	0.43508	0.422	T	0.68224	-0.5465	10	0.51188	T	0.08	-3.3996	2.0487	0.03566	0.1221:0.3917:0.1177:0.3684	.	102	Q9UBZ4	APEX2_HUMAN	M	102	ENSP00000364126:L102M	ENSP00000364126:L102M	L	+	1	2	APEX2	55045471	0.995000	0.38212	0.021000	0.16686	0.901000	0.52897	1.087000	0.30865	-0.647000	0.05444	0.523000	0.50628	CTG		PASS	0.562	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			14	50	14	50	---	---	---	---
ZC4H2	55906	broad.mit.edu	37	X	64137744	64137744	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:64137744C>A	ENST00000374839.3	-	5	700	c.594G>T	c.(592-594)cgG>cgT	p.R198R	ZC4H2_ENST00000337990.2_Silent_p.R175R|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000545618.1_Silent_p.R193R|ZC4H2_ENST00000447788.2_Missense_Mutation_p.G144V	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	198			R -> Q (in WRWF; causes a decrease in synapse number and density). {ECO:0000269|PubMed:23623388}.		nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)	p.G144V(1)|p.R198R(1)		endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TAGGTGCATTCCGGTGAATTT	0.483																																						uc004dvu.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		lung(2)	ovary(1)	1						c.(592-594)CGG>CGT		zinc finger, C4H2 domain containing							118.0	82.0	94.0					X																	64137744		2203	4300	6503	SO:0001819	synonymous_variant	55906						metal ion binding|protein binding	g.chrX:64137744C>A	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.594G>T	X.37:g.64137744C>A						ZC4H2_uc004dvv.2_Silent_p.R175R|ZC4H2_uc011mov.1_Silent_p.R175R|ZC4H2_uc011mow.1_Missense_Mutation_p.G144V|ZC4H2_uc004dvw.1_3'UTR	p.R198R	NM_018684	NP_061154	Q9NQZ6	ZC4H2_HUMAN			5	682	-			198			C4H2-type.		B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Silent	SNP	ENST00000374839.3	37	c.594G>T	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299534	0.40694	.	.	ENSG00000126970	ENST00000447788	.	.	.	5.42	1.34	0.21922	.	.	.	.	.	T	0.39253	0.1071	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.08722	-1.0708	7	0.29301	T	0.29	.	4.6739	0.12703	0.0:0.4403:0.152:0.4077	.	144	B4DED0	.	V	144	.	ENSP00000399126:G144V	G	-	2	0	ZC4H2	64054469	0.989000	0.36119	0.995000	0.50966	0.979000	0.70002	0.221000	0.17680	-0.072000	0.12864	-0.198000	0.12761	GGA		PASS	0.483	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		20	38	20	38	---	---	---	---
LAS1L	81887	broad.mit.edu	37	X	64738216	64738216	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:64738216C>A	ENST00000374811.3	-	12	1618	c.1578G>T	c.(1576-1578)ggG>ggT	p.G526G	LAS1L_ENST00000374807.5_Silent_p.G509G|LAS1L_ENST00000374804.5_Silent_p.G467G|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	526					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G526G(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ATGGAGACTTCCCAATGGGGG	0.572																																						uc004dwa.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)	4						c.(1576-1578)GGG>GGT		LAS1-like							73.0	70.0	71.0					X																	64738216		2203	4300	6503	SO:0001819	synonymous_variant	81887					MLL1 complex|nucleolus	protein binding	g.chrX:64738216C>A	BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1578G>T	X.37:g.64738216C>A						LAS1L_uc004dwc.1_Silent_p.G509G|LAS1L_uc004dwd.1_Silent_p.G467G|LAS1L_uc004dvy.1_Silent_p.G39G|LAS1L_uc004dvz.1_Silent_p.G39G	p.G526G	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN			12	1650	-			526					A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Silent	SNP	ENST00000374811.3	37	c.1578G>T	CCDS14381.1																																																																																				PASS	0.572	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056974.1	NM_031206		30	124	30	124	---	---	---	---
ARR3	407	broad.mit.edu	37	X	69502122	69502122	+	IGR	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:69502122G>A	ENST00000307959.8	+	0	1292				RAB41_ENST00000374473.2_Missense_Mutation_p.E19K|RAB41_ENST00000276066.4_Missense_Mutation_p.E19K	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)						endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)		p.E19K(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						CTTTGGTCTGGAGGCTGCCGA	0.562																																						uc004dyc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(55-57)GAG>AAG		RAB41, member RAS oncogene family							93.0	75.0	81.0					X																	69502122		2203	4300	6503	SO:0001628	intergenic_variant	347517				protein transport|small GTPase mediated signal transduction		GTP binding	g.chrX:69502122G>A		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768		X.37:g.69502122G>A						RAB41_uc010nkv.2_Missense_Mutation_p.E9K	p.E19K	NM_001032726	NP_001027898	Q5JT25	RAB41_HUMAN			1	55	+			19					B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	ENST00000307959.8	37	c.55G>A	CCDS14399.1	.	.	.	.	.	.	.	.	.	.	G	9.464	1.093940	0.20471	.	.	ENSG00000147127	ENST00000374473;ENST00000276066	T;T	0.65549	-0.16;0.22	3.7	2.83	0.33086	.	.	.	.	.	T	0.36663	0.0975	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.001;0.002	T	0.15321	-1.0441	9	0.08381	T	0.77	.	10.0294	0.42092	0.1081:0.0:0.8919:0.0	.	19;19	Q5JT25-2;Q5JT25	.;RAB41_HUMAN	K	19	ENSP00000363597:E19K;ENSP00000276066:E19K	ENSP00000276066:E19K	E	+	1	0	RAB41	69418847	1.000000	0.71417	0.021000	0.16686	0.009000	0.06853	1.633000	0.37113	0.913000	0.36797	-0.190000	0.12839	GAG		PASS	0.562	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312		35	68	35	68	---	---	---	---
TEX11	56159	broad.mit.edu	37	X	69942543	69942543	+	Missense_Mutation	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:69942543A>T	ENST00000395889.2	-	14	1129	c.974T>A	c.(973-975)gTc>gAc	p.V325D	TEX11_ENST00000374333.2_Missense_Mutation_p.V310D|TEX11_ENST00000374320.2_5'UTR|TEX11_ENST00000344304.3_Missense_Mutation_p.V325D	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	325					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.V310D(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TATTTCCATGACAGCTAACAA	0.308																																						uc004dyl.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)|skin(1)	5						c.(973-975)GTC>GAC		testis expressed sequence 11 isoform 1							95.0	77.0	83.0					X																	69942543		2203	4300	6503	SO:0001583	missense	56159						protein binding	g.chrX:69942543A>T	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.974T>A	X.37:g.69942543A>T	ENSP00000379226:p.Val325Asp					TEX11_uc004dyk.2_5'UTR|TEX11_uc004dym.2_Missense_Mutation_p.V310D	p.V325D	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN			14	1136	-	Renal(35;0.156)		325					A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	c.974T>A	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	a	12.58	1.980001	0.34942	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.33865	1.39;1.39;1.39	3.98	-4.72	0.03269	.	0.418350	0.22183	N	0.063461	T	0.39118	0.1066	L	0.55481	1.735	0.09310	N	0.999996	D;D	0.61697	0.962;0.99	P;P	0.59546	0.778;0.859	T	0.28870	-1.0030	9	.	.	.	0.5822	6.3701	0.21477	0.2168:0.3401:0.4431:0.0	.	310;325	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	D	310;325;325	ENSP00000363453:V310D;ENSP00000379226:V325D;ENSP00000340995:V325D	.	V	-	2	0	TEX11	69859268	0.022000	0.18835	0.011000	0.14972	0.747000	0.42532	-0.140000	0.10342	-1.004000	0.03421	0.414000	0.27820	GTC		PASS	0.308	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1			11	57	11	57	---	---	---	---
CXorf65	158830	broad.mit.edu	37	X	70323874	70323874	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:70323874C>A	ENST00000374251.5	-	6	563	c.515G>T	c.(514-516)gGt>gTt	p.G172V		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	172								p.G172V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						GAGTTGGCGACCTTTATTCTT	0.398																																						uc011mpo.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(514-516)GGT>GTT		hypothetical protein LOC158830							127.0	100.0	109.0					X																	70323874		2202	4300	6502	SO:0001583	missense	158830							g.chrX:70323874C>A	BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.515G>T	X.37:g.70323874C>A	ENSP00000363369:p.Gly172Val					CXorf65_uc011mpp.1_Missense_Mutation_p.G124V	p.G172V	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN			6	529	-			172						Missense_Mutation	SNP	ENST00000374251.5	37	c.515G>T	CCDS35324.1	.	.	.	.	.	.	.	.	.	.	C	8.200	0.797973	0.16327	.	.	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.51071	0.8;0.72	3.86	-3.59	0.04583	.	7.298260	0.01983	N	0.044949	T	0.27454	0.0674	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16541	-1.0399	10	0.24483	T	0.36	.	9.6051	0.39628	0.0:0.5945:0.0:0.4055	.	172	A6NEN9	CX065_HUMAN	V	172;192	ENSP00000363369:G172V;ENSP00000411354:G192V	ENSP00000363369:G172V	G	-	2	0	CXorf65	70240599	0.215000	0.23574	0.000000	0.03702	0.001000	0.01503	-0.333000	0.07894	-1.004000	0.03421	-0.881000	0.02953	GGT		PASS	0.398	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057089.2	NM_001025265		20	98	20	98	---	---	---	---
NONO	4841	broad.mit.edu	37	X	70511814	70511814	+	Missense_Mutation	SNP	A	A	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:70511814A>C	ENST00000276079.8	+	4	545	c.340A>C	c.(340-342)Atc>Ctc	p.I114L	NONO_ENST00000373856.3_Missense_Mutation_p.I114L|NONO_ENST00000535149.1_Missense_Mutation_p.I25L|NONO_ENST00000373841.1_Missense_Mutation_p.I114L	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	114	DBHS.|RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.I114L(1)	NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					ATTTGGCTTTATCCGCTTGGT	0.418			T	TFE3	papillary renal cancer																																	uc004dzo.2				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)	4						c.(340-342)ATC>CTC		non-POU domain containing, octamer-binding							100.0	94.0	96.0					X																	70511814		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70511814A>C	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.340A>C	X.37:g.70511814A>C	ENSP00000276079:p.Ile114Leu					BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.2_Missense_Mutation_p.I114L|NONO_uc004dzp.2_Missense_Mutation_p.I114L|NONO_uc011mpv.1_Missense_Mutation_p.I25L|NONO_uc004dzq.2_5'Flank	p.I114L	NM_001145408	NP_001138880	Q15233	NONO_HUMAN			5	1050	+	Renal(35;0.156)		114			DBHS.|RRM 1.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.340A>C	CCDS14410.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	17.89|17.89	3.499627|3.499627	0.64298|0.64298	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000413858;ENST00000454976|ENST00000418921	T;T;T;T;T;T|.	0.77229|.	2.15;2.15;2.15;2.15;-1.08;2.15|.	4.99|4.99	4.99|4.99	0.66335|0.66335	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59662|0.59662	0.2210|0.2210	L|L	0.43923|0.43923	1.385|1.385	0.80722|0.80722	D|D	1|1	B|.	0.12630|.	0.006|.	B|.	0.15052|.	0.012|.	T|T	0.57359|0.57359	-0.7825|-0.7825	10|5	0.26408|.	T|.	0.33|.	-9.6888|-9.6888	13.8804|13.8804	0.63678|0.63678	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	114|.	Q15233|.	NONO_HUMAN|.	L|F	25;114;114;114;114;114|32	ENSP00000441364:I25L;ENSP00000276079:I114L;ENSP00000362963:I114L;ENSP00000362947:I114L;ENSP00000413350:I114L;ENSP00000406673:I114L|.	ENSP00000276079:I114L|.	I|L	+|+	1|3	0|2	NONO|NONO	70428539|70428539	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.081000|9.081000	0.94049|0.94049	1.852000|1.852000	0.53769|0.53769	0.430000|0.430000	0.28490|0.28490	ATC|TTA		PASS	0.418	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		29	139	29	139	---	---	---	---
TAF1	6872	broad.mit.edu	37	X	70597477	70597477	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:70597477G>T	ENST00000373790.4	+	6	787	c.736G>T	c.(736-738)Gga>Tga	p.G246*	TAF1_ENST00000449580.1_Nonsense_Mutation_p.G246*|TAF1_ENST00000423759.1_Nonsense_Mutation_p.G267*|TAF1_ENST00000276072.3_Nonsense_Mutation_p.G267*	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	246	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G246*(1)|p.G267*(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACGTCTTTTTGGACCAGGGAA	0.473																																						uc004dzu.3																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(736-738)GGA>TGA		TBP-associated factor 1 isoform 2							126.0	97.0	107.0					X																	70597477		2203	4300	6503	SO:0001587	stop_gained	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70597477G>T		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.736G>T	X.37:g.70597477G>T	ENSP00000362895:p.Gly246*					BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Nonsense_Mutation_p.G267*	p.G246*	NM_138923	NP_620278	P21675	TAF1_HUMAN			6	787	+	Renal(35;0.156)	all_lung(315;0.000321)	246			Protein kinase 1.		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Nonsense_Mutation	SNP	ENST00000373790.4	37	c.736G>T	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	37	6.291286	0.97449	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.	.	.	4.82	3.95	0.45737	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4921	0.67657	0.0:0.1439:0.8561:0.0	.	.	.	.	X	246;246;267;267	.	ENSP00000276072:G267X	G	+	1	0	TAF1	70514202	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.202000	0.95026	1.134000	0.42165	0.468000	0.43344	GGA		PASS	0.473	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		12	67	12	67	---	---	---	---
ACRC	93953	broad.mit.edu	37	X	70830664	70830664	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:70830664C>A	ENST00000373695.1	+	10	2282	c.1745C>A	c.(1744-1746)tCt>tAt	p.S582Y	ACRC_ENST00000373696.3_Missense_Mutation_p.S582Y|ACRC_ENST00000471950.1_3'UTR			Q96QF7	ACRC_HUMAN	acidic repeat containing	582	SprT-like.					nucleus (GO:0005634)		p.S582Y(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTCTGCGACTCTGCAGGTGAT	0.522																																						uc004eae.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1744-1746)TCT>TAT		ACRC protein							94.0	64.0	74.0					X																	70830664		2203	4300	6503	SO:0001583	missense	93953					nucleus		g.chrX:70830664C>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.1745C>A	X.37:g.70830664C>A	ENSP00000362799:p.Ser582Tyr					BCYRN1_uc011mpt.1_Intron	p.S582Y	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN			11	2246	+	Renal(35;0.156)		582					B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.1745C>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	C	14.83	2.653377	0.47362	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.45276	0.9;0.9	5.44	4.52	0.55395	Domain of unknown function SprT-like (2);	.	.	.	.	T	0.63450	0.2512	M	0.77313	2.365	0.39784	D	0.972346	D	0.89917	1.0	D	0.91635	0.999	T	0.68573	-0.5373	9	0.59425	D	0.04	.	12.2314	0.54490	0.0:0.8314:0.1686:0.0	.	582	Q96QF7	ACRC_HUMAN	Y	582	ENSP00000362800:S582Y;ENSP00000362799:S582Y	ENSP00000362799:S582Y	S	+	2	0	ACRC	70747389	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	3.337000	0.52120	2.266000	0.75297	0.532000	0.56150	TCT		PASS	0.522	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			3	43	3	43	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71426086	71426086	+	Missense_Mutation	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:71426086T>C	ENST00000334463.3	-	2	2666	c.2531A>G	c.(2530-2532)cAa>cGa	p.Q844R	ERCC6L_ENST00000373657.1_Missense_Mutation_p.Q721R|PIN4_ENST00000423432.2_Intron	NM_017669.2	NP_060139.2	Q2NKX8	ERC6L_HUMAN	excision repair cross-complementation group 6-like	844					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q844R(1)		breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGTCTCTTTTTGTACAGCTTC	0.373																																						uc004eaq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(2530-2532)CAA>CGA		excision repair protein ERCC6-like							81.0	71.0	74.0					X																	71426086		2203	4300	6503	SO:0001583	missense	54821				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding	g.chrX:71426086T>C	AK000112	CCDS35329.1	Xq13.1	2014-03-07	2014-03-07		ENSG00000186871	ENSG00000186871			20794	protein-coding gene	gene with protein product	"""PLK1-interacting checkpoint helicase"""	300687	"""excision repair cross-complementing rodent repair deficiency, complementation group 6-like"""			17218258	Standard	NM_017669		Approved	FLJ20105, PICH, RAD26L	uc004eaq.1	Q2NKX8	OTTHUMG00000021810	ENST00000334463.3:c.2531A>G	X.37:g.71426086T>C	ENSP00000334675:p.Gln844Arg					PIN4_uc004eao.1_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.Q721R	p.Q844R	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN			2	2628	-	Renal(35;0.156)		844					Q8NCI1|Q96H93|Q9NXQ8	Missense_Mutation	SNP	ENST00000334463.3	37	c.2531A>G	CCDS35329.1	.	.	.	.	.	.	.	.	.	.	T	10.53	1.375507	0.24857	.	.	ENSG00000186871	ENST00000373657;ENST00000334463	D;D	0.90788	-2.7;-2.73	4.91	3.72	0.42706	.	.	.	.	.	D	0.86213	0.5879	L	0.51422	1.61	0.09310	N	1	B	0.23128	0.08	B	0.17433	0.018	T	0.74583	-0.3617	9	0.36615	T	0.2	-4.4767	8.2686	0.31831	0.1798:0.0:0.0:0.8202	.	844	Q2NKX8	ERC6L_HUMAN	R	721;844	ENSP00000362761:Q721R;ENSP00000334675:Q844R	ENSP00000334675:Q844R	Q	-	2	0	ERCC6L	71342811	0.237000	0.23815	0.006000	0.13384	0.010000	0.07245	2.725000	0.47294	0.679000	0.31345	-0.415000	0.06103	CAA		PASS	0.373	ERCC6L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057174.2	NM_017669		47	74	47	74	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76919046	76919046	+	Splice_Site	SNP	T	T	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:76919046T>C	ENST00000373344.5	-	12	4159	c.3945A>G	c.(3943-3945)gaA>gaG	p.E1315E	ATRX_ENST00000395603.3_Splice_Site_p.E1277E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1315	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E1315E(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GATTTTTTGCTTCTAAATGAA	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3				Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		3	Substitution - coding silent(2)|Unknown(1)		lung(2)|bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(3943-3945)GAA>GAG		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						47.0	39.0	41.0					X																	76919046		2203	4296	6499	SO:0001630	splice_region_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76919046T>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3944-1A>G	X.37:g.76919046T>C						ATRX_uc004ecq.3_Silent_p.E1277E|ATRX_uc004eco.3_Silent_p.E1100E|ATRX_uc004ecr.2_Silent_p.E1247E	p.E1315E	NM_000489	NP_000480	P46100	ATRX_HUMAN			12	4177	-			1315					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	c.3945A>G	CCDS14434.1																																																																																				PASS	0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489	Silent	12	38	12	38	---	---	---	---
BRWD3	254065	broad.mit.edu	37	X	79974986	79974986	+	Splice_Site	SNP	A	A	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:79974986A>T	ENST00000373275.4	-	18	2261		c.e18+1		BRWD3_ENST00000473691.1_Splice_Site	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3						cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.?(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AAAAATACTTACCACCATTAA	0.294																																						uc004edt.2																			1	Unknown(1)		lung(1)	ovary(4)	4						c.e18+1		bromodomain and WD repeat domain containing 3							92.0	78.0	83.0					X																	79974986		2202	4300	6502	SO:0001630	splice_region_variant	254065							g.chrX:79974986A>T		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2044+1T>A	X.37:g.79974986A>T						BRWD3_uc010nmi.1_Intron|BRWD3_uc004edo.2_Splice_Site_p.A278_splice|BRWD3_uc004edp.2_Splice_Site_p.A511_splice|BRWD3_uc004edq.2_Splice_Site_p.A278_splice|BRWD3_uc010nmj.1_Splice_Site_p.A278_splice|BRWD3_uc004edr.2_Splice_Site_p.A352_splice|BRWD3_uc004eds.2_Splice_Site_p.A278_splice|BRWD3_uc004edu.2_Splice_Site_p.A352_splice|BRWD3_uc004edv.2_Splice_Site_p.A278_splice|BRWD3_uc004edw.2_Splice_Site_p.A278_splice|BRWD3_uc004edx.2_Splice_Site_p.A278_splice|BRWD3_uc004edy.2_Splice_Site_p.A278_splice|BRWD3_uc004edz.2_Splice_Site_p.A352_splice|BRWD3_uc004eea.2_Splice_Site_p.A352_splice|BRWD3_uc004eeb.2_Splice_Site_p.A278_splice	p.A682_splice	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN			18	2307	-								C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Splice_Site	SNP	ENST00000373275.4	37	c.2044_splice	CCDS14447.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.295809	0.40594	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9942	0.30258	0.9045:0.0:0.0955:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRWD3	79861642	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.704000	0.54815	1.838000	0.53458	0.417000	0.27973	.		PASS	0.294	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057344.1	NM_153252	Intron	18	76	18	76	---	---	---	---
ZNF711	7552	broad.mit.edu	37	X	84510642	84510642	+	Missense_Mutation	SNP	G	G	A	rs3747423		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:84510642G>A	ENST00000373165.3	+	4	763	c.457G>A	c.(457-459)Gac>Aac	p.D153N	ZNF711_ENST00000276123.3_Missense_Mutation_p.D153N|ZNF711_ENST00000395402.1_Missense_Mutation_p.D131N|ZNF711_ENST00000360700.4_Missense_Mutation_p.D153N|ZNF711_ENST00000542798.1_5'Flank	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	153					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.D153N(1)|p.D133N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TTCAGGAGTCGACTCTCCCAC	0.448																																						uc004eeo.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|skin(1)	4						c.(457-459)GAC>AAC		zinc finger protein 711							112.0	95.0	101.0					X																	84510642		2203	4300	6503	SO:0001583	missense	7552				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chrX:84510642G>A	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.457G>A	X.37:g.84510642G>A	ENSP00000362260:p.Asp153Asn					ZNF711_uc004eep.2_Missense_Mutation_p.D153N|ZNF711_uc004eeq.2_Missense_Mutation_p.D153N	p.D153N	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN			4	804	+			153					B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	ENST00000373165.3	37	c.457G>A	CCDS35344.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.483562	0.44147	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.02	5.02	0.67125	Transcriptional activator, Zfx / Zfy domain (1);	0.000000	0.45867	D	0.000339	T	0.39091	0.1065	L	0.47716	1.5	0.80722	D	1	P;P	0.51791	0.948;0.826	B;B	0.37601	0.254;0.151	T	0.44498	-0.9324	10	0.59425	D	0.04	-8.0697	13.3194	0.60424	0.0:0.1543:0.8457:0.0	rs3747423;rs3747423	153;153	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	N	131;153;153;153	ENSP00000378798:D131N;ENSP00000362260:D153N;ENSP00000276123:D153N;ENSP00000353922:D153N	ENSP00000276123:D153N	D	+	1	0	ZNF711	84397298	0.095000	0.21747	1.000000	0.80357	0.476000	0.33039	0.789000	0.26886	2.082000	0.62665	0.550000	0.68814	GAC		PASS	0.448	ZNF711-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057388.2	NM_021998		15	100	15	100	---	---	---	---
CHM	1121	broad.mit.edu	37	X	85156112	85156112	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:85156112G>T	ENST00000357749.2	-	10	1355	c.1326C>A	c.(1324-1326)aaC>aaA	p.N442K	CHM_ENST00000537751.1_Missense_Mutation_p.N294K|CHM_ENST00000467744.2_Intron|MIR361_ENST00000362181.1_RNA	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	442					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.N442K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GTGAGCACATGTTCTCAGGAA	0.398																																						uc004eet.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1324-1326)AAC>AAA		choroideremia isoform a							80.0	63.0	69.0					X																	85156112		2203	4299	6502	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85156112G>T	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1326C>A	X.37:g.85156112G>T	ENSP00000350386:p.Asn442Lys					CHM_uc011mqz.1_Missense_Mutation_p.N294K	p.N442K	NM_000390	NP_000381	P24386	RAE1_HUMAN			10	1356	-		all_lung(315;5.41e-06)	442					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.1326C>A	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.787464	0.00628	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.83163	-1.69;-1.69	5.41	-0.504	0.11997	.	0.809842	0.12167	N	0.493456	T	0.60196	0.2250	N	0.20986	0.625	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.46857	-0.9161	10	0.02654	T	1	-13.0237	0.4254	0.00463	0.2963:0.1691:0.2992:0.2355	.	442	P24386	RAE1_HUMAN	K	442;294	ENSP00000350386:N442K;ENSP00000441728:N294K	ENSP00000350386:N442K	N	-	3	2	CHM	85042768	0.088000	0.21588	0.250000	0.24296	0.023000	0.10783	-0.105000	0.10907	-0.041000	0.13558	-0.498000	0.04607	AAC		PASS	0.398	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		11	52	11	52	---	---	---	---
CHM	1121	broad.mit.edu	37	X	85302529	85302529	+	Missense_Mutation	SNP	T	T	G	rs149255670		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:85302529T>G	ENST00000357749.2	-	1	37	c.8A>C	c.(7-9)gAt>gCt	p.D3A	CHM_ENST00000537751.1_5'UTR|CHM_ENST00000467744.2_5'Flank|CHM_ENST00000358786.4_Missense_Mutation_p.D3A	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	3					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.D3A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AGGGAGAGTATCCGCCATCTT	0.458																																						uc004eet.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7-9)GAT>GCT		choroideremia isoform a							123.0	71.0	89.0					X																	85302529		2203	4300	6503	SO:0001583	missense	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85302529T>G	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.8A>C	X.37:g.85302529T>G	ENSP00000350386:p.Asp3Ala					CHM_uc011mqz.1_5'UTR|CHM_uc004eeu.3_5'Flank|CHM_uc004eev.3_Missense_Mutation_p.D3A	p.D3A	NM_000390	NP_000381	P24386	RAE1_HUMAN			1	38	-		all_lung(315;5.41e-06)	3					A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	37	c.8A>C	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.974062	0.34848	.	.	ENSG00000188419	ENST00000357749;ENST00000358786	D;D	0.91686	-2.89;-1.52	5.06	2.65	0.31530	.	0.321285	0.32736	N	0.005706	D	0.89588	0.6758	M	0.74881	2.28	0.80722	D	1	B;B	0.30542	0.284;0.226	B;B	0.26770	0.067;0.073	D	0.85135	0.0977	10	0.87932	D	0	-6.0491	8.5181	0.33259	0.0:0.1632:0.0:0.8368	.	3;3	A1L4D2;P24386	.;RAE1_HUMAN	A	3	ENSP00000350386:D3A;ENSP00000362228:D3A	ENSP00000350386:D3A	D	-	2	0	CHM	85189185	1.000000	0.71417	0.980000	0.43619	0.854000	0.48673	2.468000	0.45102	0.250000	0.21479	-0.314000	0.08810	GAT		PASS	0.458	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		7	23	7	23	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	85906066	85906066	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:85906066C>A	ENST00000373125.4	+	4	668	c.668C>A	c.(667-669)gCg>gAg	p.A223E	DACH2_ENST00000510272.1_Missense_Mutation_p.A4E|DACH2_ENST00000508860.1_Missense_Mutation_p.A56E|DACH2_ENST00000373131.1_Missense_Mutation_p.A210E	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	223					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A210E(1)|p.A223E(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						ATGGCTGAGGCGATGAAACTT	0.363																																						uc004eew.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(667-669)GCG>GAG		dachshund 2 isoform a							79.0	62.0	68.0					X																	85906066		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85906066C>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.668C>A	X.37:g.85906066C>A	ENSP00000362217:p.Ala223Glu					DACH2_uc004eex.2_Missense_Mutation_p.A210E|DACH2_uc010nmq.2_Missense_Mutation_p.A89E|DACH2_uc011mra.1_Missense_Mutation_p.A56E|DACH2_uc010nmr.2_Missense_Mutation_p.A4E	p.A223E	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			4	838	+			223					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.668C>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.940449	0.73557	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297	D;D	0.85955	-2.05;-2.02	4.69	4.69	0.59074	.	0.000000	0.64402	D	0.000005	D	0.90950	0.7155	M	0.64404	1.975	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.991;0.997;0.983	D	0.90920	0.4782	10	0.44086	T	0.13	.	16.9482	0.86236	0.0:1.0:0.0:0.0	.	89;210;223	Q1RMF5;Q96NX9-2;Q96NX9	.;.;DACH2_HUMAN	E	223;210;223;56;4;56	ENSP00000362223:A210E;ENSP00000362217:A223E	ENSP00000345134:A223E	A	+	2	0	DACH2	85792722	1.000000	0.71417	0.871000	0.34182	0.753000	0.42808	5.530000	0.67141	1.918000	0.55548	0.513000	0.50165	GCG		PASS	0.363	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		14	26	14	26	---	---	---	---
KLHL4	56062	broad.mit.edu	37	X	86888805	86888805	+	Missense_Mutation	SNP	T	T	A	rs202017331		TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:86888805T>A	ENST00000373119.4	+	8	1751	c.1606T>A	c.(1606-1608)Tat>Aat	p.Y536N	KLHL4_ENST00000373114.4_Missense_Mutation_p.Y536N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	536						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Y536N(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGGATGGAGCTATCTAAATAC	0.423													T|||	1	0.000264901	0.0008	0.0	3775	,	,		13246	0.0		0.0	False		,,,				2504	0.0					uc004efb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(1606-1608)TAT>AAT		kelch-like 4 isoform 1							143.0	115.0	125.0					X																	86888805		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86888805T>A	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1606T>A	X.37:g.86888805T>A	ENSP00000362211:p.Tyr536Asn					KLHL4_uc004efa.2_Missense_Mutation_p.Y536N	p.Y536N	NM_019117	NP_061990	Q9C0H6	KLHL4_HUMAN			8	1788	+			536			Kelch 3.		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1606T>A	CCDS14457.1	1	6.027727546714888E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	18.60	3.657937	0.67586	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.78126	-1.15;-1.15	4.72	4.72	0.59763	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	D	0.84547	0.5496	M	0.61703	1.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.986	T	0.83072	-0.0142	10	0.31617	T	0.26	.	12.4994	0.55948	0.0:0.0:0.0:1.0	.	536;536	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	N	536	ENSP00000362211:Y536N;ENSP00000362206:Y536N	ENSP00000362206:Y536N	Y	+	1	0	KLHL4	86775461	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.359000	0.79477	1.742000	0.51746	0.412000	0.27726	TAT		PASS	0.423	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			36	63	36	63	---	---	---	---
TGIF2LX	90316	broad.mit.edu	37	X	89177752	89177752	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:89177752C>A	ENST00000561129.2	+	1	798	c.668C>A	c.(667-669)gCa>gAa	p.A223E	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A223E			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A223E(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CTAGTCGATGCAGCAGTACAA	0.493																																						uc004efe.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(667-669)GCA>GAA		TGFB-induced factor homeobox 2-like, X-linked							45.0	48.0	47.0					X																	89177752		2198	4295	6493	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177752C>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.668C>A	X.37:g.89177752C>A	ENSP00000453704:p.Ala223Glu						p.A223E	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	717	+			223					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.668C>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	C	7.440	0.640471	0.14386	.	.	ENSG00000153779	ENST00000283891	T	0.66460	-0.21	3.11	-3.28	0.05033	.	0.530450	0.13847	N	0.358658	T	0.64125	0.2570	M	0.63843	1.955	0.09310	N	1	D	0.58970	0.984	P	0.49140	0.601	T	0.60596	-0.7232	9	.	.	.	-13.4702	9.2957	0.37813	0.0:0.3284:0.0:0.6716	.	223	Q8IUE1	TF2LX_HUMAN	E	223	ENSP00000355119:A223E	.	A	+	2	0	TGIF2LX	89064408	0.039000	0.19947	0.000000	0.03702	0.001000	0.01503	-0.463000	0.06696	-1.192000	0.02691	-0.759000	0.03464	GCA		PASS	0.493	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960		32	48	32	48	---	---	---	---
PABPC5	140886	broad.mit.edu	37	X	90690693	90690693	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:90690693G>T	ENST00000312600.3	+	2	331	c.117G>T	c.(115-117)agG>agT	p.R39S	PABPC5_ENST00000373105.1_Intron|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	39	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.R39S(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGAAGTTCAGGCCTGCTGGCC	0.562																																						uc004efg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|pancreas(1)	3						c.(115-117)AGG>AGT		poly(A) binding protein, cytoplasmic 5							56.0	44.0	48.0					X																	90690693		2203	4300	6503	SO:0001583	missense	140886					cytoplasm	nucleotide binding|RNA binding	g.chrX:90690693G>T	AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.117G>T	X.37:g.90690693G>T	ENSP00000308012:p.Arg39Ser					PABPC5_uc004eff.1_Intron	p.R39S	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN			2	557	+			39			RRM 1.		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	ENST00000312600.3	37	c.117G>T	CCDS14460.1	.	.	.	.	.	.	.	.	.	.	G	0.304	-0.972319	0.02215	.	.	ENSG00000174740	ENST00000312600;ENST00000402906	T	0.13778	2.56	4.43	2.63	0.31362	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.038991	0.85682	D	0.000000	T	0.01940	0.0061	N	0.00224	-1.81	0.39273	D	0.964429	B	0.16166	0.016	B	0.09377	0.004	T	0.34179	-0.9839	10	0.02654	T	1	.	3.6401	0.08163	0.237:0.2062:0.5568:0.0	.	39	Q96DU9	PABP5_HUMAN	S	39;7	ENSP00000308012:R39S	ENSP00000308012:R39S	R	+	3	2	PABPC5	90577349	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.499000	0.22546	0.587000	0.29643	0.600000	0.82982	AGG		PASS	0.562	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057429.1	NM_080832		6	33	6	33	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91090873	91090873	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:91090873A>G	ENST00000373094.1	+	1	1215	c.370A>G	c.(370-372)Aag>Gag	p.K124E	PCDH11X_ENST00000298274.8_Missense_Mutation_p.K124E|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K124E|PCDH11X_ENST00000361724.1_Missense_Mutation_p.K124E|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K124E|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K124E|PCDH11X_ENST00000504220.2_Missense_Mutation_p.K124E|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K124E|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K124E	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.K124E(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TAGACTGGTTAAGATACGTTT	0.373																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(370-372)AAG>GAG		protocadherin 11 X-linked isoform c							56.0	52.0	53.0					X																	91090873		2202	4279	6481	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090873A>G	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.370A>G	X.37:g.91090873A>G	ENSP00000362186:p.Lys124Glu					PCDH11X_uc004efl.1_Missense_Mutation_p.K124E|PCDH11X_uc004efo.1_Missense_Mutation_p.K124E|PCDH11X_uc010nmv.1_Missense_Mutation_p.K124E|PCDH11X_uc004efm.1_Missense_Mutation_p.K124E|PCDH11X_uc004efn.1_Missense_Mutation_p.K124E|PCDH11X_uc004efh.1_Missense_Mutation_p.K124E|PCDH11X_uc004efj.1_Missense_Mutation_p.K124E	p.K124E	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			1	1215	+			124			Extracellular (Potential).|Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.370A>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.493502	0.44352	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.52754	0.65;0.71;0.72;0.65;0.73;0.71;0.7;0.72;0.73	4.44	4.44	0.53790	Cadherin (2);	0.000000	0.85682	D	0.000000	T	0.50343	0.1610	L	0.27944	0.81	0.48571	D	0.999679	D;D;D;D;D;D;D;D	0.89917	1.0;0.997;0.999;0.999;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D	0.91635	0.999;0.986;0.998;0.998;0.999;0.998;0.998;0.998	T	0.38824	-0.9643	10	0.10636	T	0.68	.	12.2094	0.54371	1.0:0.0:0.0:0.0	.	124;124;124;124;124;124;124;124	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	E	124	ENSP00000378746:K124E;ENSP00000362186:K124E;ENSP00000362189:K124E;ENSP00000355040:K124E;ENSP00000362180:K124E;ENSP00000423762:K124E;ENSP00000355105:K124E;ENSP00000384758:K124E;ENSP00000298274:K124E	ENSP00000298274:K124E	K	+	1	0	PCDH11X	90977529	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.349000	0.90067	1.741000	0.51731	0.412000	0.27726	AAG		PASS	0.373	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		24	81	24	81	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91873434	91873434	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:91873434C>A	ENST00000373094.1	+	7	4384	c.3539C>A	c.(3538-3540)gCc>gAc	p.A1180D	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1143D|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1143D|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1162D|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1170D|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1172D	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1180					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1180D(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGTCACAGGCCTCTACTCAG	0.597																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3538-3540)GCC>GAC		protocadherin 11 X-linked isoform c							190.0	150.0	164.0					X																	91873434		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873434C>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3539C>A	X.37:g.91873434C>A	ENSP00000362186:p.Ala1180Asp					PCDH11X_uc004efl.1_Missense_Mutation_p.A1170D|PCDH11X_uc004efo.1_Missense_Mutation_p.A1143D|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.A1172D|PCDH11X_uc004efn.1_Missense_Mutation_p.A1162D	p.A1180D	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4384	+			1180			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3539C>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	6.891	0.533849	0.13188	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.51071	0.73;0.75;0.74;0.72;0.74;0.74	3.8	1.95	0.26073	.	.	.	.	.	T	0.22975	0.0555	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.26195	0.144;0.144;0.144;0.144;0.089	B;B;B;B;B	0.19391	0.025;0.025;0.025;0.025;0.011	T	0.21621	-1.0240	9	0.16896	T	0.51	.	7.3755	0.26825	0.0:0.7654:0.0:0.2346	.	1143;1162;1172;1170;1180	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	D	1180;1170;1143;1162;1172;1180;1143	ENSP00000362186:A1180D;ENSP00000362189:A1170D;ENSP00000362180:A1143D;ENSP00000355105:A1162D;ENSP00000384758:A1172D;ENSP00000298274:A1143D	ENSP00000298274:A1143D	A	+	2	0	PCDH11X	91760090	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.193000	0.17116	0.231000	0.21079	0.370000	0.22315	GCC		PASS	0.597	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		59	107	59	107	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91873655	91873655	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:91873655G>C	ENST00000373094.1	+	7	4605	c.3760G>C	c.(3760-3762)Gca>Cca	p.A1254P	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A1217P|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A1217P|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A1236P|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A1244P|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A1246P	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1254					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A1254P(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ACAGGCTGCTGCAATCAGCCA	0.572																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(3760-3762)GCA>CCA		protocadherin 11 X-linked isoform c							180.0	158.0	165.0					X																	91873655		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873655G>C	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3760G>C	X.37:g.91873655G>C	ENSP00000362186:p.Ala1254Pro					PCDH11X_uc004efl.1_Missense_Mutation_p.A1244P|PCDH11X_uc004efo.1_Missense_Mutation_p.A1217P|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.A1246P|PCDH11X_uc004efn.1_Missense_Mutation_p.A1236P	p.A1254P	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			7	4605	+			1254			Cytoplasmic (Potential).		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3760G>C	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	3.849	-0.032141	0.07543	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.55588	0.52;0.53;0.54;0.51;0.53;0.54	3.61	0.66	0.17868	.	.	.	.	.	T	0.29945	0.0749	N	0.19112	0.55	0.09310	N	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.001	T	0.16512	-1.0400	9	0.30078	T	0.28	.	1.7915	0.03053	0.1118:0.1722:0.36:0.356	.	1217;1236;1246;1244;1254	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	P	1254;1244;1217;1236;1246;1254;1217	ENSP00000362186:A1254P;ENSP00000362189:A1244P;ENSP00000362180:A1217P;ENSP00000355105:A1236P;ENSP00000384758:A1246P;ENSP00000298274:A1217P	ENSP00000298274:A1217P	A	+	1	0	PCDH11X	91760311	0.003000	0.15002	0.000000	0.03702	0.178000	0.23041	0.265000	0.18515	-0.094000	0.12374	0.370000	0.22315	GCA		PASS	0.572	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		20	149	20	149	---	---	---	---
TRMT2B	79979	broad.mit.edu	37	X	100273996	100273996	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:100273996C>T	ENST00000372936.3	-	13	2124	c.1352G>A	c.(1351-1353)tGc>tAc	p.C451Y	TRMT2B_ENST00000372935.1_Missense_Mutation_p.C451Y|TRMT2B_ENST00000545398.1_Missense_Mutation_p.C451Y|TRMT2B_ENST00000372931.5_Missense_Mutation_p.C451Y|TRMT2B_ENST00000338687.7_Missense_Mutation_p.C406Y|TRMT2B_ENST00000372939.1_Missense_Mutation_p.C406Y	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	451				C -> R (in Ref. 2; CAI46112). {ECO:0000305}.		mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)	p.C451Y(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						ATGGAGCTTGCAGGAAACAAA	0.368																																						uc004egq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1351-1353)TGC>TAC		TRM2 tRNA methyltransferase 2 homolog B							168.0	158.0	161.0					X																	100273996		2203	4300	6503	SO:0001583	missense	79979						tRNA (uracil-5-)-methyltransferase activity	g.chrX:100273996C>T	BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1352G>A	X.37:g.100273996C>T	ENSP00000362027:p.Cys451Tyr					TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.C451Y|TRMT2B_uc004egs.2_Missense_Mutation_p.C451Y|TRMT2B_uc004egt.2_Missense_Mutation_p.C451Y|TRMT2B_uc004egu.2_Missense_Mutation_p.C332Y|TRMT2B_uc004egv.2_Missense_Mutation_p.C406Y	p.C451Y	NM_024917	NP_079193	Q96GJ1	TRM2_HUMAN			12	1651	-			451	C -> R (in Ref. 2; CAI46112).			Nucleophile (By similarity).	A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	ENST00000372936.3	37	c.1352G>A	CCDS14477.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754225	0.69648	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;D	0.84944	1.94;1.94;1.94;1.94;1.94;-1.92	4.96	4.96	0.65561	.	0.051612	0.85682	D	0.000000	D	0.95277	0.8468	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.979;0.998;0.996	D	0.96988	0.9720	10	0.87932	D	0	-0.4061	15.0408	0.71788	0.0:1.0:0.0:0.0	.	406;451;451	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	Y	406;451;406;451;451;451	ENSP00000340970:C406Y;ENSP00000438134:C451Y;ENSP00000362030:C406Y;ENSP00000362026:C451Y;ENSP00000362027:C451Y;ENSP00000362022:C451Y	ENSP00000340970:C406Y	C	-	2	0	TRMT2B	100160652	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	2.467000	0.45093	2.227000	0.72691	0.529000	0.55759	TGC		PASS	0.368	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057512.1	NM_024917		54	107	54	107	---	---	---	---
ZMAT1	84460	broad.mit.edu	37	X	101153010	101153010	+	Silent	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:101153010A>G	ENST00000372782.3	-	5	383	c.336T>C	c.(334-336)caT>caC	p.H112H	ZMAT1_ENST00000458570.1_5'UTR|ZMAT1_ENST00000540921.1_Silent_p.H112H	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	112						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.H112H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTTCATACCTATGCACCTGAA	0.383																																						uc011mrl.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(334-336)CAT>CAC		zinc finger, matrin type 1 isoform 1							153.0	124.0	134.0					X																	101153010		2203	4300	6503	SO:0001819	synonymous_variant	84460					nucleus	zinc ion binding	g.chrX:101153010A>G	Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.336T>C	X.37:g.101153010A>G						ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR	p.H112H	NM_001011657	NP_001011657	Q5H9K5	ZMAT1_HUMAN			5	647	-			Error:Variant_position_missing_in_A7MD47_after_alignment					Q8NDS3|Q96JN6	Silent	SNP	ENST00000372782.3	37	c.336T>C	CCDS35348.1																																																																																				PASS	0.383	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057598.1			27	119	27	119	---	---	---	---
MORF4L2	9643	broad.mit.edu	37	X	102931462	102931462	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:102931462C>T	ENST00000441076.2	-	4	798	c.494G>A	c.(493-495)tGc>tAc	p.C165Y	MORF4L2_ENST00000422154.2_Missense_Mutation_p.C165Y|MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000451301.1_Missense_Mutation_p.C165Y|MORF4L2_ENST00000360458.1_Missense_Mutation_p.C165Y|MORF4L2_ENST00000423833.2_Missense_Mutation_p.C165Y|MORF4L2_ENST00000433176.2_Missense_Mutation_p.C165Y	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	165	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.C165Y(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CGATTTCTTGCAATTTGCATA	0.418																																						uc004ekw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(493-495)TGC>TAC		mortality factor 4 like 2							131.0	129.0	129.0					X																	102931462		2203	4300	6503	SO:0001583	missense	9643				chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding	g.chrX:102931462C>T	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.494G>A	X.37:g.102931462C>T	ENSP00000391969:p.Cys165Tyr					MORF4L2_uc004ela.2_Missense_Mutation_p.C165Y|MORF4L2_uc004ekx.2_Missense_Mutation_p.C165Y|MORF4L2_uc004elb.2_Missense_Mutation_p.C165Y|MORF4L2_uc004eky.2_Missense_Mutation_p.C165Y|MORF4L2_uc010nos.2_Missense_Mutation_p.C165Y|MORF4L2_uc004ekz.2_Missense_Mutation_p.C165Y|MORF4L2_uc011mry.1_Missense_Mutation_p.C165Y|MORF4L2_uc011mrz.1_Missense_Mutation_p.C165Y|MORF4L2_uc004elc.2_Missense_Mutation_p.C165Y|MORF4L2_uc004elf.2_Missense_Mutation_p.C165Y|MORF4L2_uc004ele.2_Missense_Mutation_p.C165Y|MORF4L2_uc011msa.1_Missense_Mutation_p.C165Y|MORF4L2_uc011msb.1_Missense_Mutation_p.C165Y|MORF4L2_uc011msc.1_Missense_Mutation_p.C165Y|MORF4L2_uc011msd.1_Missense_Mutation_p.C165Y|MORF4L2_uc004eld.2_Missense_Mutation_p.C165Y	p.C165Y	NM_012286	NP_036418	Q15014	MO4L2_HUMAN			4	1726	-			165					B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	37	c.494G>A	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.112025	0.00353	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819	T;T;T;T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07;3.07	4.79	4.79	0.61399	.	0.271321	0.43919	N	0.000512	T	0.01454	0.0047	N	0.00162	-1.95	0.41882	D	0.990329	B	0.02656	0.0	B	0.06405	0.002	T	0.43718	-0.9374	10	0.02654	T	1	-14.495	7.8782	0.29605	0.0:0.8917:0.0:0.1083	.	165	Q15014	MO4L2_HUMAN	Y	165;47;165;165;165;147;165;165;165;165	ENSP00000353643:C165Y;ENSP00000361703:C47Y;ENSP00000415476:C165Y;ENSP00000394417:C165Y;ENSP00000410532:C165Y;ENSP00000391969:C165Y;ENSP00000416120:C165Y;ENSP00000413664:C165Y;ENSP00000393283:C165Y	ENSP00000353643:C165Y	C	-	2	0	MORF4L2	102818118	1.000000	0.71417	0.924000	0.36721	0.413000	0.31143	3.046000	0.49846	2.618000	0.88619	0.600000	0.82982	TGC		PASS	0.418	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286		103	163	103	163	---	---	---	---
GLRA4	441509	broad.mit.edu	37	X	102962291	102962291	+	Missense_Mutation	SNP	C	C	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:102962291C>G	ENST00000372617.4	-	9	1655	c.1235G>C	c.(1234-1236)cGg>cCg	p.R412P		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	412						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.R412P(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTAGAGTTTCCGCGTGGTTTC	0.512																																						uc011mse.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1234-1236)CGG>CCG		glycine receptor, alpha 4 precursor							94.0	92.0	92.0					X																	102962291		1914	4109	6023	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102962291C>G	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.1235G>C	X.37:g.102962291C>G	ENSP00000361700:p.Arg412Pro						p.R412P	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			9	1656	-			412			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.1235G>C	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	c	17.37	3.372024	0.61624	.	.	ENSG00000188828	ENST00000372617	D	0.81739	-1.53	5.25	3.48	0.39840	.	0.686250	0.14804	N	0.297459	T	0.74344	0.3704	N	0.08118	0	0.32027	N	0.599993	P	0.51240	0.943	P	0.59889	0.865	T	0.72194	-0.4364	10	0.30854	T	0.27	.	9.1144	0.36748	0.0:0.8153:0.0:0.1847	.	412	Q5JXX5	GLRA4_HUMAN	P	412	ENSP00000361700:R412P	ENSP00000361700:R412P	R	-	2	0	GLRA4	102848947	0.219000	0.23619	0.998000	0.56505	0.588000	0.36517	0.333000	0.19768	0.435000	0.26365	0.544000	0.68410	CGG		PASS	0.512	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		18	93	18	93	---	---	---	---
GLRA4	441509	broad.mit.edu	37	X	102962376	102962376	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:102962376C>T	ENST00000372617.4	-	9	1570	c.1150G>A	c.(1150-1152)Gca>Aca	p.A384T		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	384						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)	p.A384T(1)		cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCATCTCTTGCCTGCAGGCAG	0.498																																						uc011mse.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1150-1152)GCA>ACA		glycine receptor, alpha 4 precursor							89.0	84.0	86.0					X																	102962376		1907	4107	6014	SO:0001583	missense	441509					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	g.chrX:102962376C>T	Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.1150G>A	X.37:g.102962376C>T	ENSP00000361700:p.Ala384Thr						p.A384T	NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN			9	1571	-			384			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000372617.4	37	c.1150G>A	CCDS43980.2	.	.	.	.	.	.	.	.	.	.	c	15.03	2.711523	0.48517	.	.	ENSG00000188828	ENST00000372617	D	0.83591	-1.74	5.62	4.76	0.60689	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.526146	0.20981	N	0.082213	T	0.67144	0.2862	N	0.08118	0	0.29384	N	0.863125	B	0.02656	0.0	B	0.04013	0.001	T	0.60546	-0.7242	10	0.38643	T	0.18	.	11.1972	0.48719	0.0:0.9088:0.0:0.0912	.	384	Q5JXX5	GLRA4_HUMAN	T	384	ENSP00000361700:A384T	ENSP00000361700:A384T	A	-	1	0	GLRA4	102849032	0.437000	0.25593	1.000000	0.80357	0.994000	0.84299	1.323000	0.33701	1.129000	0.42072	0.544000	0.68410	GCA		PASS	0.498	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057742.2	NM_001024452		17	67	17	67	---	---	---	---
H2BFWT	158983	broad.mit.edu	37	X	103267933	103267933	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:103267933C>A	ENST00000217926.5	-	1	326	c.300G>T	c.(298-300)cgG>cgT	p.R100R	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	100						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R100R(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TCACGGCCTCCCGGGAAAGGC	0.637																																						uc004elr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(298-300)CGG>CGT		H2B histone family, member W, testis-specific							45.0	41.0	42.0					X																	103267933		2203	4300	6503	SO:0001819	synonymous_variant	158983				nucleosome assembly	nuclear membrane|nucleosome	DNA binding	g.chrX:103267933C>A	BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.300G>T	X.37:g.103267933C>A							p.R100R	NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN			1	324	-			100					B1AK72|Q147W3	Silent	SNP	ENST00000217926.5	37	c.300G>T	CCDS35362.1																																																																																				PASS	0.637	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057756.2	NM_001002916		6	59	6	59	---	---	---	---
TEX13A	56157	broad.mit.edu	37	X	104464885	104464885	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:104464885G>T	ENST00000413579.1	-	2	308	c.197C>A	c.(196-198)gCc>gAc	p.A66D	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.A66D|TEX13A_ENST00000372578.3_Missense_Mutation_p.A66D|IL1RAPL2_ENST00000344799.4_Intron			Q9BXU3	TX13A_HUMAN	testis expressed 13A	66							zinc ion binding (GO:0008270)			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCAGGTGCAGGCCTCTTTGAC	0.587																																						uc004ema.2																			0				ovary(2)	2						c.(196-198)GCC>GAC		testis expressed sequence 13A							48.0	46.0	46.0					X																	104464885		2203	4300	6503	SO:0001583	missense	56157					intracellular	zinc ion binding	g.chrX:104464885G>T	AF285597	CCDS76005.1	Xq28	2012-04-20	2007-03-13		ENSG00000133149	ENSG00000268629			11735	protein-coding gene	gene with protein product		300312	"""testis expressed sequence 13A"""			11279525	Standard	NM_031274		Approved		uc004ema.3	Q9BXU3	OTTHUMG00000022133	ENST00000413579.1:c.197C>A	X.37:g.104464885G>T	ENSP00000399753:p.Ala66Asp					IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.2_Missense_Mutation_p.A66D	p.A66D	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN			2	309	-			66					B1B1G8|Q32NB6	Missense_Mutation	SNP	ENST00000413579.1	37	c.197C>A		.	.	.	.	.	.	.	.	.	.	G	13.02	2.111564	0.37242	.	.	ENSG00000133149	ENST00000372578;ENST00000372575;ENST00000413579	.	.	.	3.11	3.11	0.35812	.	0.000000	0.34435	N	0.003980	T	0.41396	0.1157	.	.	.	0.33036	D	0.530796	P;P	0.52577	0.954;0.921	B;B	0.43575	0.424;0.282	T	0.60454	-0.7260	8	0.87932	D	0	.	8.9123	0.35561	0.0:0.0:1.0:0.0	.	66;66	C9JWK0;Q9BXU3	.;TX13A_HUMAN	D	66	.	ENSP00000361656:A66D	A	-	2	0	TEX13A	104351541	0.852000	0.29690	0.928000	0.36995	0.271000	0.26615	2.035000	0.41155	1.835000	0.53391	0.506000	0.49869	GCC		PASS	0.587	TEX13A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_031274		22	37	22	37	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105153578	105153578	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:105153578C>A	ENST00000243300.9	+	13	2248	c.1945C>A	c.(1945-1947)Cgg>Agg	p.R649R	NRK_ENST00000428173.2_Silent_p.R650R	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	649					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.R650R(1)|p.R649R(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGACTTGCTTCGGGCACCAAA	0.478										HNSCC(51;0.14)																												uc004emd.2																			2	Substitution - coding silent(2)		lung(2)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(1945-1947)CGG>AGG		Nik related kinase							46.0	42.0	43.0					X																	105153578		1896	4108	6004	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105153578C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1945C>A	X.37:g.105153578C>A		HNSCC(51;0.14)				NRK_uc010npc.1_Silent_p.R317R	p.R649R	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			13	2248	+			649					Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.1945C>A																																																																																					PASS	0.478	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		7	27	7	27	---	---	---	---
NUP62CL	54830	broad.mit.edu	37	X	106411002	106411002	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:106411002G>T	ENST00000372466.4	-	4	322	c.71C>A	c.(70-72)aCg>aAg	p.T24K	NUP62CL_ENST00000372461.3_Missense_Mutation_p.T24K	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	24	Thr-rich.				protein transport (GO:0015031)	nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.T24K(1)		lung(4)	4						ggtggtagtcgtTGAAGTTGT	0.363																																						uc004ena.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)ACG>AAG		nucleoporin 62kDa C-terminal like							190.0	161.0	171.0					X																	106411002		2203	4300	6503	SO:0001583	missense	54830				protein transport	nuclear pore	structural constituent of nuclear pore	g.chrX:106411002G>T	AK000137	CCDS14527.1	Xq22.3	2008-02-05			ENSG00000198088	ENSG00000198088			25960	protein-coding gene	gene with protein product						12477932	Standard	NM_017681		Approved	FLJ20130	uc004ena.3	Q9H1M0	OTTHUMG00000022159	ENST00000372466.4:c.71C>A	X.37:g.106411002G>T	ENSP00000361544:p.Thr24Lys					NUP62CL_uc004enb.2_RNA	p.T24K	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN			4	330	-			24			Thr-rich.		D3DUX4|Q8WVL6|Q9NXP2	Missense_Mutation	SNP	ENST00000372466.4	37	c.71C>A	CCDS14527.1	.	.	.	.	.	.	.	.	.	.	G	10.60	1.395631	0.25205	.	.	ENSG00000198088	ENST00000372466;ENST00000372465;ENST00000372461;ENST00000421752	T;T;T	0.63255	0.76;-0.03;0.36	3.84	3.84	0.44239	Nucleoporin, NSP1-like, C-terminal (1);	1.137620	0.06329	N	0.705759	T	0.68824	0.3043	N	0.24115	0.695	0.27510	N	0.951716	D	0.89917	1.0	D	0.87578	0.998	T	0.60110	-0.7327	10	0.87932	D	0	-3.0761	10.1993	0.43073	0.0:0.0:1.0:0.0	.	24	Q9H1M0	N62CL_HUMAN	K	24	ENSP00000361544:T24K;ENSP00000361539:T24K;ENSP00000405906:T24K	ENSP00000361539:T24K	T	-	2	0	NUP62CL	106297658	0.972000	0.33761	0.401000	0.26359	0.912000	0.54170	2.389000	0.44407	2.161000	0.67846	0.600000	0.82982	ACG		PASS	0.363	NUP62CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057828.1	NM_017681		26	156	26	156	---	---	---	---
NCBP2L	392517	broad.mit.edu	37	X	107018452	107018452	+	5'Flank	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:107018452G>T	ENST00000509000.2	+	0	0				TSC22D3_ENST00000372383.4_Missense_Mutation_p.N66K|TSC22D3_ENST00000506081.1_Missense_Mutation_p.N66K|TSC22D3_ENST00000514426.1_5'UTR|TSC22D3_ENST00000315660.4_Missense_Mutation_p.N66K|TSC22D3_ENST00000372384.2_Missense_Mutation_p.N66K			A6PVI3	NCB2L_HUMAN	nuclear cap binding protein subunit 2-like						mRNA cis splicing, via spliceosome (GO:0045292)	nuclear cap binding complex (GO:0005846)	nucleotide binding (GO:0000166)|RNA cap binding (GO:0000339)	p.N66K(1)		large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	5						GCATTATGCTGTTGAGCTTGT	0.572																																						uc004enh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)AAC>AAA		TSC22 domain family, member 3 isoform 1							134.0	102.0	113.0					X																	107018452		2203	4300	6503	SO:0001631	upstream_gene_variant	1831						sequence-specific DNA binding transcription factor activity	g.chrX:107018452G>T			Xq22.3	2013-02-12			ENSG00000170935	ENSG00000170935		"""RNA binding motif (RRM) containing"""	31795	protein-coding gene	gene with protein product							Standard	NG_011409		Approved			A6PVI3	OTTHUMG00000022169		X.37:g.107018452G>T	Exception_encountered					TSC22D3_uc004eni.2_Missense_Mutation_p.N66K|TSC22D3_uc004enj.2_Missense_Mutation_p.N66K	p.N66K	NM_198057	NP_932174	Q99576	T22D3_HUMAN			1	566	-			Error:Variant_position_missing_in_Q99576_after_alignment						Missense_Mutation	SNP	ENST00000509000.2	37	c.198C>A		.	.	.	.	.	.	.	.	.	.	G	17.54	3.414791	0.62511	.	.	ENSG00000157514	ENST00000315660;ENST00000372383;ENST00000372384;ENST00000506081;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650;ENST00000506724;ENST00000505965	.	.	.	5.22	5.22	0.72569	.	0.711374	0.14455	N	0.318513	T	0.45256	0.1333	L	0.29908	0.895	0.80722	D	1	P	0.44139	0.827	B	0.40982	0.345	T	0.48103	-0.9064	9	0.54805	T	0.06	-21.5221	15.3861	0.74703	0.0:0.0:1.0:0.0	.	66	Q99576-3	.	K	66	.	ENSP00000314655:N66K	N	-	3	2	TSC22D3	106905108	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.520000	0.53465	2.313000	0.78055	0.600000	0.82982	AAC		PASS	0.572	NCBP2L-001	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000057850.2	XM_373362		16	111	16	111	---	---	---	---
IRS4	8471	broad.mit.edu	37	X	107975873	107975873	+	Silent	SNP	G	G	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:107975873G>A	ENST00000372129.2	-	1	3778	c.3702C>T	c.(3700-3702)gaC>gaT	p.D1234D	RP6-24A23.6_ENST00000563887.1_Silent_p.D15D	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1234					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.D1234D(2)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAGTGTCGTCGTCGTTGTCAG	0.542																																						uc004eoc.2																			2	Substitution - coding silent(2)		lung(1)|endometrium(1)	ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(3700-3702)GAC>GAT		insulin receptor substrate 4							124.0	119.0	121.0					X																	107975873		2203	4300	6503	SO:0001819	synonymous_variant	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107975873G>A	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3702C>T	X.37:g.107975873G>A							p.D1234D	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	3735	-			1234						Silent	SNP	ENST00000372129.2	37	c.3702C>T	CCDS14544.1																																																																																				PASS	0.542	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		8	296	8	296	---	---	---	---
RGAG1	57529	broad.mit.edu	37	X	109697270	109697270	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:109697270G>T	ENST00000465301.2	+	3	3671	c.3425G>T	c.(3424-3426)gGa>gTa	p.G1142V	RGAG1_ENST00000540313.1_Missense_Mutation_p.G1142V	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1142								p.G1142V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CCATCCTTCGGAATGTTGACC	0.522																																						uc004eor.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3424-3426)GGA>GTA		retrotransposon gag domain containing 1							149.0	133.0	139.0					X																	109697270		2203	4300	6503	SO:0001583	missense	57529							g.chrX:109697270G>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.3425G>T	X.37:g.109697270G>T	ENSP00000419786:p.Gly1142Val					RGAG1_uc011msr.1_Missense_Mutation_p.G1142V	p.G1142V	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN			3	3671	+			1142					Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	c.3425G>T	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904831	0.52333	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.59083	0.29;0.29	4.26	4.26	0.50523	.	0.000000	0.39407	N	0.001374	T	0.61850	0.2380	L	0.29908	0.895	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.58787	-0.7575	9	.	.	.	-11.5246	10.9798	0.47488	0.0:0.0:1.0:0.0	.	1142	Q8NET4	RGAG1_HUMAN	V	1142;1142;703	ENSP00000419786:G1142V;ENSP00000441452:G1142V	.	G	+	2	0	RGAG1	109583926	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.817000	0.55668	2.356000	0.79943	0.600000	0.82982	GGA		PASS	0.522	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		32	169	32	169	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111195429	111195429	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:111195429G>C	ENST00000262839.2	-	2	1138	c.220C>G	c.(220-222)Ctg>Gtg	p.L74V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	74					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.L74V(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCAATGAGCAGGGCACTCCGG	0.527																																						uc004epl.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)	1						c.(220-222)CTG>GTG		transient receptor potential cation channel,							152.0	123.0	133.0					X																	111195429		2203	4300	6503	SO:0001583	missense	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111195429G>C	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.220C>G	X.37:g.111195429G>C	ENSP00000262839:p.Leu74Val					TRPC5_uc004epm.1_Missense_Mutation_p.L74V	p.L74V	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			2	1139	-			74			ANK 2.|Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Missense_Mutation	SNP	ENST00000262839.2	37	c.220C>G	CCDS14561.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.312036	0.81358	.	.	ENSG00000072315	ENST00000262839	T	0.78364	-1.17	5.6	5.6	0.85130	Ankyrin repeat-containing domain (3);	0.064498	0.64402	D	0.000006	D	0.88621	0.6486	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89189	0.3549	10	0.56958	D	0.05	-4.4099	18.6162	0.91303	0.0:0.0:1.0:0.0	.	75;74	Q59G51;Q9UL62	.;TRPC5_HUMAN	V	74	ENSP00000262839:L74V	ENSP00000262839:L74V	L	-	1	2	TRPC5	111082085	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.772000	0.68889	2.339000	0.79563	0.513000	0.50165	CTG		PASS	0.527	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		22	160	22	160	---	---	---	---
ZCCHC16	340595	broad.mit.edu	37	X	111698772	111698772	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:111698772C>A	ENST00000340433.2	+	1	1046	c.816C>A	c.(814-816)gcC>gcA	p.A272A		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	272							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.A272A(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAAACGAGCCCGCCAGCAAG	0.552																																						uc004epo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(814-816)GCC>GCA		zinc finger, CCHC domain containing 16							68.0	70.0	70.0					X																	111698772		2203	4300	6503	SO:0001819	synonymous_variant	340595						nucleic acid binding|zinc ion binding	g.chrX:111698772C>A	AK128465	CCDS35369.1	Xq23	2008-05-02			ENSG00000187823	ENSG00000187823		"""Zinc fingers, CCHC domain containing"""	25214	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_001004308		Approved	Mart4, Mar4, FLJ46608	uc004epo.1	Q6ZR62	OTTHUMG00000159706	ENST00000340433.2:c.816C>A	X.37:g.111698772C>A							p.A272A	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN			3	1257	+			272					B2RPG1	Silent	SNP	ENST00000340433.2	37	c.816C>A	CCDS35369.1																																																																																				PASS	0.552	ZCCHC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356964.1	NM_001004308		41	25	41	25	---	---	---	---
LRCH2	57631	broad.mit.edu	37	X	114357364	114357364	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:114357364G>T	ENST00000317135.8	-	19	2089	c.2059C>A	c.(2059-2061)Cca>Aca	p.P687T	LRCH2_ENST00000538422.1_Missense_Mutation_p.P670T	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	687	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.							p.P687T(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ACAGAACGTGGCCTTATATGA	0.368																																						uc010nqe.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(2059-2061)CCA>ACA		leucine-rich repeats and calponin homology (CH)							114.0	102.0	106.0					X																	114357364		1966	4150	6116	SO:0001583	missense	57631							g.chrX:114357364G>T	AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.2059C>A	X.37:g.114357364G>T	ENSP00000325091:p.Pro687Thr					LRCH2_uc004epz.2_Missense_Mutation_p.P670T	p.P687T	NM_020871	NP_065922	Q5VUJ6	LRCH2_HUMAN			19	2090	-			687			CH.		F5H2T1|Q08AD5|Q9HA88|Q9P233	Missense_Mutation	SNP	ENST00000317135.8	37	c.2059C>A	CCDS48155.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683368	0.68157	.	.	ENSG00000130224	ENST00000317135;ENST00000536655;ENST00000538422	D;D	0.97455	-4.39;-4.39	5.39	5.39	0.77823	Calponin homology domain (5);	0.057366	0.64402	N	0.000001	D	0.98792	0.9593	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	D	0.99741	1.1015	10	0.87932	D	0	-10.8904	16.6315	0.85035	0.0:0.0:1.0:0.0	.	687;670	Q5VUJ6;F5H2T1	LRCH2_HUMAN;.	T	687;166;670	ENSP00000325091:P687T;ENSP00000439366:P670T	ENSP00000325091:P687T	P	-	1	0	LRCH2	114263620	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.263000	0.95617	2.499000	0.84300	0.422000	0.28245	CCA		PASS	0.368	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057971.2	NM_020871		7	49	7	49	---	---	---	---
KIAA1210	57481	broad.mit.edu	37	X	118242299	118242299	+	Splice_Site	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:118242299C>A	ENST00000402510.2	-	6	912		c.e6+1			NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210									p.?(2)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						cactTTGTTACCTCAGTGATC	0.507																																						uc004era.3																			2	Unknown(2)		lung(2)	ovary(4)|skin(1)	5						c.e6+1		hypothetical protein LOC57481							128.0	123.0	125.0					X																	118242299		2005	4173	6178	SO:0001630	splice_region_variant	57481							g.chrX:118242299C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.912+1G>T	X.37:g.118242299C>A							p.E304_splice	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			6	912	-								B7ZCI8|Q5JPN4	Splice_Site	SNP	ENST00000402510.2	37	c.912_splice	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.186607	0.78789	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2959	0.43625	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RP13-347D8.5;RP13-347D8.6	118126327	1.000000	0.71417	0.998000	0.56505	0.826000	0.46750	1.574000	0.36482	2.185000	0.69588	0.600000	0.82982	.		PASS	0.507	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	Intron	76	149	76	149	---	---	---	---
LAMP2	3920	broad.mit.edu	37	X	119575625	119575625	+	Silent	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:119575625C>T	ENST00000200639.4	-	8	1189	c.1053G>A	c.(1051-1053)agG>agA	p.R351R	LAMP2_ENST00000538785.1_Silent_p.R240R|LAMP2_ENST00000371335.4_Silent_p.R351R|LAMP2_ENST00000434600.2_Silent_p.R351R|LAMP2_ENST00000540603.1_Silent_p.R304R			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	351	Second lumenal domain.				blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)	p.R351R(3)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AAGGCTGAACCCTTAGATCAA	0.398																																						uc004est.3																			3	Substitution - coding silent(3)		lung(3)	ovary(1)	1						c.(1051-1053)AGG>AGA		lysosomal-associated membrane protein 2 isoform							129.0	116.0	121.0					X																	119575625		2203	4300	6503	SO:0001819	synonymous_variant	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119575625C>T	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1053G>A	X.37:g.119575625C>T						LAMP2_uc004ess.3_Silent_p.R351R|LAMP2_uc011mtz.1_Silent_p.R240R|LAMP2_uc011mua.1_Silent_p.R304R|LAMP2_uc010nqp.1_Silent_p.R351R	p.R351R	NM_002294	NP_002285	P13473	LAMP2_HUMAN			8	1233	-			351			Lumenal (Potential).|Second lumenal domain.		A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Silent	SNP	ENST00000200639.4	37	c.1053G>A	CCDS14599.1																																																																																				PASS	0.398	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			21	147	21	147	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685490	125685490	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:125685490C>A	ENST00000371126.1	-	1	1344	c.1102G>T	c.(1102-1104)Ggt>Tgt	p.G368C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	368								p.G368C(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						GAGCCCTGACCGGTGCCCACA	0.632																																						uc004eul.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(1102-1104)GGT>TGT		DDB1 and CUL4 associated factor 12-like 1							36.0	39.0	38.0					X																	125685490		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685490C>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.1102G>T	X.37:g.125685490C>A	ENSP00000360167:p.Gly368Cys						p.G368C	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1353	-			368			WD 4.		Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.1102G>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457629	0.43634	.	.	ENSG00000198889	ENST00000371126	T	0.64618	-0.11	3.64	3.64	0.41730	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.36519	N	0.002541	T	0.78304	0.4262	M	0.83774	2.66	0.46749	D	0.999181	D	0.89917	1.0	D	0.72982	0.979	T	0.81475	-0.0916	10	0.62326	D	0.03	.	12.4843	0.55863	0.0:1.0:0.0:0.0	.	368	Q5VU92	DC121_HUMAN	C	368	ENSP00000360167:G368C	ENSP00000360167:G368C	G	-	1	0	DCAF12L1	125513171	1.000000	0.71417	0.060000	0.19600	0.145000	0.21501	6.539000	0.73856	2.098000	0.63641	0.429000	0.28392	GGT		PASS	0.632	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		36	35	36	35	---	---	---	---
DCAF12L1	139170	broad.mit.edu	37	X	125685718	125685718	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:125685718C>A	ENST00000371126.1	-	1	1116	c.874G>T	c.(874-876)Ggg>Tgg	p.G292W		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	292								p.G292W(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						AGTGCGCTCCCGGCTTTCCAC	0.612																																						uc004eul.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(874-876)GGG>TGG		DDB1 and CUL4 associated factor 12-like 1							58.0	55.0	56.0					X																	125685718		2203	4300	6503	SO:0001583	missense	139170							g.chrX:125685718C>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.874G>T	X.37:g.125685718C>A	ENSP00000360167:p.Gly292Trp						p.G292W	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1125	-			292			WD 3.		Q8IYK3	Missense_Mutation	SNP	ENST00000371126.1	37	c.874G>T	CCDS14610.1	.	.	.	.	.	.	.	.	.	.	C	7.649	0.682492	0.14907	.	.	ENSG00000198889	ENST00000371126	T	0.63580	-0.05	3.9	-2.59	0.06209	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.518330	0.14606	N	0.309351	T	0.35770	0.0943	N	0.08118	0	0.09310	N	1	D	0.57899	0.981	B	0.41036	0.346	T	0.43845	-0.9366	10	0.87932	D	0	.	8.8391	0.35131	0.0:0.5129:0.2215:0.2657	.	292	Q5VU92	DC121_HUMAN	W	292	ENSP00000360167:G292W	ENSP00000360167:G292W	G	-	1	0	DCAF12L1	125513399	0.247000	0.23920	0.000000	0.03702	0.046000	0.14306	1.062000	0.30555	-0.792000	0.04480	-0.431000	0.05894	GGG		PASS	0.612	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		41	61	41	61	---	---	---	---
OCRL	4952	broad.mit.edu	37	X	128692840	128692840	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:128692840C>A	ENST00000371113.4	+	8	749	c.584C>A	c.(583-585)tCt>tAt	p.S195Y	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.S195Y	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	195					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.S195Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAAGAAGCTTCTAACAAGGAG	0.408																																						uc004euq.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|kidney(1)	4						c.(583-585)TCT>TAT		phosphatidylinositol polyphosphate 5-phosphatase							86.0	83.0	84.0					X																	128692840		2203	4300	6503	SO:0001583	missense	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128692840C>A	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.584C>A	X.37:g.128692840C>A	ENSP00000360154:p.Ser195Tyr					OCRL_uc004eur.2_Missense_Mutation_p.S195Y	p.S195Y	NM_000276	NP_000267	Q01968	OCRL_HUMAN			8	749	+			195					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	c.584C>A	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216500	0.39201	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.94537	-3.45;-3.45	5.29	2.26	0.28386	.	1.033560	0.07632	N	0.928711	D	0.89273	0.6668	N	0.19112	0.55	0.09310	N	1	B;B	0.26935	0.164;0.013	B;B	0.30401	0.115;0.048	T	0.80937	-0.1159	10	0.66056	D	0.02	.	6.3121	0.21171	0.1333:0.6614:0.1273:0.078	.	195;195	Q01968-2;Q01968	.;OCRL_HUMAN	Y	195	ENSP00000360154:S195Y;ENSP00000349635:S195Y	ENSP00000349635:S195Y	S	+	2	0	OCRL	128520521	0.086000	0.21541	0.836000	0.33094	0.981000	0.71138	0.468000	0.22051	0.476000	0.27440	0.594000	0.82650	TCT		PASS	0.408	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		10	122	10	122	---	---	---	---
XPNPEP2	7512	broad.mit.edu	37	X	128886218	128886218	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:128886218A>G	ENST00000371106.3	+	10	1106	c.914A>G	c.(913-915)tAc>tGc	p.Y305C		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	305						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.Y305C(1)		endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						ATCGAGGATTACAGCCAAGTT	0.493																																						uc004eut.1																			1	Substitution - Missense(1)		lung(1)		0						c.(913-915)TAC>TGC		X-prolyl aminopeptidase 2, membrane-bound							156.0	123.0	134.0					X																	128886218		2203	4299	6502	SO:0001583	missense	7512				cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chrX:128886218A>G	U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.914A>G	X.37:g.128886218A>G	ENSP00000360147:p.Tyr305Cys						p.Y305C	NM_003399	NP_003390	O43895	XPP2_HUMAN			10	1158	+			305					A0AV16|O75994	Missense_Mutation	SNP	ENST00000371106.3	37	c.914A>G	CCDS14613.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.159327	0.78226	.	.	ENSG00000122121	ENST00000371106	T	0.78481	-1.18	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.91597	0.7345	H	0.96048	3.76	0.58432	D	0.999998	D	0.89917	1.0	D	0.77557	0.99	D	0.93941	0.7223	10	0.87932	D	0	-10.731	14.1815	0.65577	1.0:0.0:0.0:0.0	.	305	O43895	XPP2_HUMAN	C	305	ENSP00000360147:Y305C	ENSP00000360147:Y305C	Y	+	2	0	XPNPEP2	128713899	1.000000	0.71417	0.807000	0.32361	0.978000	0.69477	6.562000	0.73960	1.995000	0.58328	0.430000	0.28490	TAC		PASS	0.493	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058210.1	NM_003399		43	122	43	122	---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129201404	129201404	+	Silent	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:129201404C>A	ENST00000308167.5	-	9	1663	c.1284G>T	c.(1282-1284)ctG>ctT	p.L428L	ELF4_ENST00000335997.7_Silent_p.L428L	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.L428L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCCATTGGTCAGCACCGTGG	0.607			T	ERG	AML																																	uc004evd.3				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1282-1284)CTG>CTT		E74-like factor 4							64.0	61.0	62.0					X																	129201404		2203	4300	6503	SO:0001819	synonymous_variant	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201404C>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1284G>T	X.37:g.129201404C>A						ELF4_uc004eve.3_Silent_p.L428L	p.L428L	NM_001421	NP_001412	Q99607	ELF4_HUMAN			9	1669	-			428						Silent	SNP	ENST00000308167.5	37	c.1284G>T	CCDS14617.1																																																																																				PASS	0.607	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		7	81	7	81	---	---	---	---
ELF4	2000	broad.mit.edu	37	X	129203533	129203533	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:129203533G>C	ENST00000308167.5	-	8	1308	c.929C>G	c.(928-930)aCa>aGa	p.T310R	ELF4_ENST00000335997.7_Missense_Mutation_p.T310R	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)									p.T310R(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGGGGCTGCTGTGGCTTCGCT	0.607			T	ERG	AML																																	uc004evd.3				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(928-930)ACA>AGA		E74-like factor 4							69.0	73.0	72.0					X																	129203533		2203	4300	6503	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129203533G>C	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.929C>G	X.37:g.129203533G>C	ENSP00000311280:p.Thr310Arg					ELF4_uc004eve.3_Missense_Mutation_p.T310R	p.T310R	NM_001421	NP_001412	Q99607	ELF4_HUMAN			8	1314	-			310						Missense_Mutation	SNP	ENST00000308167.5	37	c.929C>G	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	G	8.617	0.890593	0.17613	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.54279	0.58;0.58	5.47	2.57	0.30868	.	1.010930	0.07934	N	0.977997	T	0.44871	0.1314	L	0.48642	1.525	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.31558	-0.9939	10	0.30078	T	0.28	.	8.2613	0.31786	0.0:0.1305:0.4773:0.3921	.	310	Q99607	ELF4_HUMAN	R	310	ENSP00000338608:T310R;ENSP00000311280:T310R	ENSP00000311280:T310R	T	-	2	0	ELF4	129031214	0.272000	0.24172	0.002000	0.10522	0.261000	0.26267	2.700000	0.47085	1.067000	0.40740	0.590000	0.80494	ACA		PASS	0.607	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		11	81	11	81	---	---	---	---
IGSF1	3547	broad.mit.edu	37	X	130409704	130409704	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:130409704T>A	ENST00000361420.3	-	16	3011	c.2932A>T	c.(2932-2934)Agt>Tgt	p.S978C	IGSF1_ENST00000370904.1_Missense_Mutation_p.S969C|IGSF1_ENST00000370903.3_Missense_Mutation_p.S983C|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Missense_Mutation_p.S969C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	978	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)	p.S978C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACCACAGAACTGGGCTCAGCA	0.463																																						uc004ewd.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|central_nervous_system(1)	5						c.(2932-2934)AGT>TGT		immunoglobulin superfamily, member 1 isoform 1							117.0	106.0	110.0					X																	130409704		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409704T>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2932A>T	X.37:g.130409704T>A	ENSP00000355010:p.Ser978Cys					IGSF1_uc004ewe.3_Missense_Mutation_p.S972C|IGSF1_uc004ewf.2_Missense_Mutation_p.S958C	p.S978C	NM_001555	NP_001546	Q8N6C5	IGSF1_HUMAN			16	3170	-			978			Extracellular (Potential).|Ig-like C2-type 10.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2932A>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	15.85	2.954923	0.53293	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.00958	5.5;5.5;5.5;5.5	5.19	4.05	0.47172	Immunoglobulin-like fold (1);	0.394431	0.22128	N	0.064236	T	0.06188	0.0160	M	0.92691	3.335	0.28118	N	0.930739	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.997	T	0.06180	-1.0841	10	0.66056	D	0.02	.	5.8859	0.18882	0.0:0.1132:0.0:0.8868	.	969;422;978	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	C	969;978;969;983	ENSP00000359947:S969C;ENSP00000355010:S978C;ENSP00000359941:S969C;ENSP00000359940:S983C	ENSP00000355010:S978C	S	-	1	0	IGSF1	130237385	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	1.624000	0.37018	2.004000	0.58718	0.430000	0.28490	AGT		PASS	0.463	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			20	193	20	193	---	---	---	---
ZNF449	203523	broad.mit.edu	37	X	134483069	134483069	+	Missense_Mutation	SNP	C	C	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:134483069C>T	ENST00000339249.4	+	3	529	c.389C>T	c.(388-390)gCa>gTa	p.A130V		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	130					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.A130V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGAACTGGCACCAGTGGGA	0.537																																						uc004eys.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(388-390)GCA>GTA		zinc finger protein 449							235.0	186.0	203.0					X																	134483069		2203	4300	6503	SO:0001583	missense	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134483069C>T	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.389C>T	X.37:g.134483069C>T	ENSP00000339585:p.Ala130Val					ZNF449_uc004eyq.1_3'UTR|ZNF449_uc004eyt.2_Missense_Mutation_p.A10V	p.A130V	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN			3	554	+	Acute lymphoblastic leukemia(192;6.56e-05)		130					Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	c.389C>T	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	C	3.719	-0.058019	0.07317	.	.	ENSG00000173275	ENST00000339249	T	0.05649	3.41	4.61	3.74	0.42951	Transcription regulator SCAN (1);	0.213426	0.23587	N	0.046590	T	0.04452	0.0122	N	0.24115	0.695	0.19300	N	0.999975	B	0.20052	0.041	B	0.20767	0.031	T	0.42310	-0.9459	10	0.18710	T	0.47	.	9.0342	0.36277	0.2184:0.7816:0.0:0.0	.	130	Q6P9G9	ZN449_HUMAN	V	130	ENSP00000339585:A130V	ENSP00000339585:A130V	A	+	2	0	ZNF449	134310735	0.987000	0.35691	0.080000	0.20451	0.998000	0.95712	1.648000	0.37271	1.273000	0.44346	0.600000	0.82982	GCA		PASS	0.537	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		7	269	7	269	---	---	---	---
SAGE1	55511	broad.mit.edu	37	X	134990767	134990767	+	Missense_Mutation	SNP	A	A	G			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:134990767A>G	ENST00000370709.3	+	11	1432	c.1432A>G	c.(1432-1434)Agg>Ggg	p.R478G	SAGE1_ENST00000324447.3_Missense_Mutation_p.R478G|SAGE1_ENST00000535938.1_Missense_Mutation_p.R478G|SAGE1_ENST00000537770.1_Intron			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	478						nucleus (GO:0005634)		p.R478G(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATGAGTTCCAGGGATCTGTG	0.393																																						uc004ezh.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1432-1434)AGG>GGG		sarcoma antigen 1							170.0	163.0	166.0					X																	134990767		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134990767A>G	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.1432A>G	X.37:g.134990767A>G	ENSP00000359743:p.Arg478Gly					SAGE1_uc010nry.1_Missense_Mutation_p.R447G|SAGE1_uc011mvv.1_Intron	p.R478G	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN			12	1599	+	Acute lymphoblastic leukemia(192;0.000127)		478					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.1432A>G	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	A	8.922	0.961278	0.18583	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000370709	T;T;T	0.57907	0.37;0.37;0.37	0.506	-1.01	0.10169	.	0.246452	0.33161	U	0.005207	T	0.52158	0.1717	L	0.29908	0.895	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.46992	-0.9151	9	0.72032	D	0.01	.	.	.	.	.	478	Q9NXZ1	SAGE1_HUMAN	G	478	ENSP00000323191:R478G;ENSP00000445959:R478G;ENSP00000359743:R478G	ENSP00000323191:R478G	R	+	1	2	SAGE1	134818433	0.003000	0.15002	0.001000	0.08648	0.002000	0.02628	0.926000	0.28804	-0.530000	0.06349	-1.316000	0.01300	AGG		PASS	0.393	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		55	123	55	123	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135302935	135302935	+	Missense_Mutation	SNP	T	T	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:135302935T>A	ENST00000316077.9	-	16	2695	c.2475A>T	c.(2473-2475)gaA>gaT	p.E825D	MAP7D3_ENST00000370661.1_Missense_Mutation_p.E790D|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Missense_Mutation_p.E807D	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	825					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.E1122D(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TTGAAACTACTTCCTGTATTG	0.358																																						uc004ezt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2473-2475)GAA>GAT		MAP7 domain containing 3							160.0	151.0	153.0					X																	135302935		1835	4078	5913	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135302935T>A	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2475A>T	X.37:g.135302935T>A	ENSP00000318086:p.Glu825Asp					MAP7D3_uc004ezs.2_Missense_Mutation_p.E789D|MAP7D3_uc011mwc.1_Missense_Mutation_p.E807D|MAP7D3_uc010nsa.1_Missense_Mutation_p.E783D	p.E825D	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			16	2566	-	Acute lymphoblastic leukemia(192;0.000127)		825					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.2475A>T	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	T	9.569	1.120648	0.20877	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.17854	2.25;3.61;3.61;2.25	3.73	-3.98	0.04082	.	.	.	.	.	T	0.05686	0.0149	N	0.08118	0	0.09310	N	1	B;B;B;B	0.29671	0.165;0.254;0.165;0.254	B;B;B;B	0.29176	0.046;0.099;0.046;0.099	T	0.36089	-0.9762	9	0.21014	T	0.42	-1.7283	1.0966	0.01675	0.156:0.2323:0.3576:0.254	.	807;784;825;790	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	D	790;825;807;784	ENSP00000359695:E790D;ENSP00000318086:E825D;ENSP00000359697:E807D;ENSP00000359694:E784D	ENSP00000318086:E825D	E	-	3	2	MAP7D3	135130601	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.503000	0.02277	-0.942000	0.03695	-0.424000	0.05967	GAA		PASS	0.358	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			35	275	35	275	---	---	---	---
MAP7D3	79649	broad.mit.edu	37	X	135309469	135309469	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:135309469G>T	ENST00000316077.9	-	12	2228	c.2008C>A	c.(2008-2010)Cag>Aag	p.Q670K	MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q635K|MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q652K	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	670					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.Q967K(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGGTCTTCCTGATCCAGCCAT	0.453																																						uc004ezt.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2008-2010)CAG>AAG		MAP7 domain containing 3							210.0	189.0	196.0					X																	135309469		1963	4124	6087	SO:0001583	missense	79649					cytoplasm|spindle		g.chrX:135309469G>T	AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2008C>A	X.37:g.135309469G>T	ENSP00000318086:p.Gln670Lys					MAP7D3_uc004ezs.2_Missense_Mutation_p.Q634K|MAP7D3_uc011mwc.1_Missense_Mutation_p.Q652K|MAP7D3_uc010nsa.1_Missense_Mutation_p.Q628K	p.Q670K	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN			12	2099	-	Acute lymphoblastic leukemia(192;0.000127)		670					A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	c.2008C>A	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	4.360	0.066388	0.08388	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.23754	1.89;1.89;1.89;1.89	4.97	3.18	0.36537	.	.	.	.	.	T	0.20007	0.0481	N	0.26042	0.785	0.09310	N	1	P;P;P;P	0.44195	0.828;0.793;0.828;0.631	B;B;B;B	0.43950	0.437;0.344;0.437;0.229	T	0.06899	-1.0801	9	0.40728	T	0.16	0.0211	7.756	0.28925	0.0941:0.17:0.736:0.0	.	652;629;670;635	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	K	635;670;652;629	ENSP00000359695:Q635K;ENSP00000318086:Q670K;ENSP00000359697:Q652K;ENSP00000359694:Q629K	ENSP00000318086:Q670K	Q	-	1	0	MAP7D3	135137135	0.003000	0.15002	0.000000	0.03702	0.236000	0.25371	1.164000	0.31810	0.556000	0.29098	0.600000	0.82982	CAG		PASS	0.453	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2			9	100	9	100	---	---	---	---
CXorf66	347487	broad.mit.edu	37	X	139038432	139038432	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:139038432C>A	ENST00000370540.1	-	3	732	c.709G>T	c.(709-711)Gct>Tct	p.A237S		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	237						integral component of membrane (GO:0016021)		p.A237S(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GGAGGCTTAGCCAATTCCTGT	0.438																																						uc004fbb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(709-711)GCT>TCT		hypothetical protein LOC347487 precursor							166.0	155.0	158.0					X																	139038432		2203	4300	6503	SO:0001583	missense	347487					integral to membrane		g.chrX:139038432C>A		CCDS35411.1	Xq27.1	2014-05-30			ENSG00000203933	ENSG00000203933			33743	protein-coding gene	gene with protein product	"""secreted glycoprotein, X-linked"""					24709545	Standard	NM_001013403		Approved	RP11-35F15.2, SGPX	uc004fbb.3	Q5JRM2	OTTHUMG00000022539	ENST00000370540.1:c.709G>T	X.37:g.139038432C>A	ENSP00000359571:p.Ala237Ser						p.A237S	NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN			3	731	-			237			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000370540.1	37	c.709G>T	CCDS35411.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018605	0.35606	.	.	ENSG00000203933	ENST00000370540	T	0.43688	0.94	4.2	-0.484	0.12071	.	1.147300	0.06615	N	0.756247	T	0.22589	0.0545	N	0.19112	0.55	0.09310	N	1	B	0.28713	0.22	B	0.25614	0.062	T	0.17410	-1.0370	9	.	.	.	-0.562	2.3146	0.04195	0.4174:0.2089:0.0:0.3737	.	237	Q5JRM2	CX066_HUMAN	S	237	ENSP00000359571:A237S	.	A	-	1	0	CXorf66	138866098	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.521000	0.06245	-0.207000	0.10187	0.583000	0.79449	GCT		PASS	0.438	CXorf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058572.1	NM_001013403		106	144	106	144	---	---	---	---
GPR50	9248	broad.mit.edu	37	X	150348607	150348607	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:150348607C>A	ENST00000218316.3	+	2	621	c.552C>A	c.(550-552)aaC>aaA	p.N184K	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	184					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)	p.N184K(2)		breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					ACTATCTGAACAACCCTGTCT	0.537																																						uc010ntg.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(550-552)AAC>AAA		G protein-coupled receptor 50							259.0	232.0	241.0					X																	150348607		2177	4257	6434	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348607C>A	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.552C>A	X.37:g.150348607C>A	ENSP00000218316:p.Asn184Lys					uc004fes.1_5'Flank|GPR50_uc011myc.1_Missense_Mutation_p.N184K	p.N184K	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	687	+	Acute lymphoblastic leukemia(192;6.56e-05)		184			Extracellular (Potential).		Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.552C>A	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	9.887	1.203097	0.22121	.	.	ENSG00000102195	ENST00000535473;ENST00000218316	T	0.37584	1.19	4.32	2.5	0.30297	GPCR, rhodopsin-like superfamily (1);	0.526387	0.20595	N	0.089267	T	0.20659	0.0497	N	0.17631	0.505	0.36415	D	0.863951	B;B	0.18013	0.003;0.025	B;B	0.25506	0.016;0.061	T	0.12016	-1.0564	10	0.62326	D	0.03	-8.0332	3.1482	0.06479	0.2124:0.5539:0.0:0.2337	.	137;184	F5H1S3;Q13585	.;MTR1L_HUMAN	K	137;184	ENSP00000218316:N184K	ENSP00000218316:N184K	N	+	3	2	GPR50	150099265	0.999000	0.42202	0.409000	0.26459	0.573000	0.36030	0.558000	0.23469	0.767000	0.33267	0.523000	0.50628	AAC		PASS	0.537	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		19	170	19	170	---	---	---	---
GABRE	2564	broad.mit.edu	37	X	151130932	151130932	+	Missense_Mutation	SNP	G	G	C			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:151130932G>C	ENST00000370328.3	-	4	579	c.526C>G	c.(526-528)Cgc>Ggc	p.R176G	GABRE_ENST00000393914.3_Silent_p.S10S|GABRE_ENST00000370325.1_Missense_Mutation_p.R176G|MIR452_ENST00000385020.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	176					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R63G(1)|p.R176G(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|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)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTGTAGATGCGGACCATCTGG	0.478																																						uc004ffi.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(526-528)CGC>GGC		gamma-aminobutyric acid (GABA) A receptor,							135.0	97.0	110.0					X																	151130932		2203	4300	6503	SO:0001583	missense	2564				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chrX:151130932G>C	Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.526C>G	X.37:g.151130932G>C	ENSP00000359353:p.Arg176Gly					GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR452_hsa-mir-452|MI0001733_5'Flank	p.R176G	NM_004961	NP_004952	P78334	GBRE_HUMAN			4	580	-	Acute lymphoblastic leukemia(192;6.56e-05)		176			Extracellular (Probable).		E7ET93|O15345|O15346|Q6PCD2|Q99520	Missense_Mutation	SNP	ENST00000370328.3	37	c.526C>G	CCDS14703.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326168	0.60743	.	.	ENSG00000102287	ENST00000370328;ENST00000370325	T;T	0.79352	-1.26;-1.26	5.47	3.6	0.41247	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.52532	D	0.000076	D	0.86180	0.5871	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	D	0.85514	0.1199	10	0.87932	D	0	.	5.4287	0.16440	0.098:0.0:0.5879:0.3141	.	176	P78334	GBRE_HUMAN	G	176	ENSP00000359353:R176G;ENSP00000359350:R176G	ENSP00000359350:R176G	R	-	1	0	GABRE	150881588	0.860000	0.29831	0.908000	0.35775	0.871000	0.50021	1.043000	0.30316	1.093000	0.41377	0.529000	0.55759	CGC		PASS	0.478	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060903.1	NM_004961, NM_021990, NM_021984		3	58	3	58	---	---	---	---
MAGEA6	4105	broad.mit.edu	37	X	151870148	151870148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:151870148G>T	ENST00000329342.5	+	3	1063	c.838G>T	c.(838-840)Gaa>Taa	p.E280*		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	280	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.E280*(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTCATTGAAACCAGCTA	0.537																																						uc004ffq.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(838-840)GAA>TAA		melanoma antigen family A, 6							158.0	152.0	154.0					X																	151870148		2202	4300	6502	SO:0001587	stop_gained	4105						protein binding	g.chrX:151870148G>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.838G>T	X.37:g.151870148G>T	ENSP00000329199:p.Glu280*					MAGEA6_uc004ffr.1_Nonsense_Mutation_p.E280*|MAGEA2_uc010nto.2_Intron	p.E280*	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	1032	+	Acute lymphoblastic leukemia(192;6.56e-05)		280			MAGE.		A8IF93|Q6NW44	Nonsense_Mutation	SNP	ENST00000329342.5	37	c.838G>T	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	15.10	2.732020	0.48939	.	.	ENSG00000197172	ENST00000329342	.	.	.	0.879	0.879	0.19155	.	.	.	.	.	.	.	.	.	.	.	0.51482	D	0.999922	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.8218	0.13394	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000329199:E280X	E	+	1	0	MAGEA6	151620804	0.615000	0.27026	0.016000	0.15963	0.102000	0.19082	2.037000	0.41174	0.718000	0.32166	0.181000	0.17075	GAA		PASS	0.537	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		17	235	17	235	---	---	---	---
PNMA5	114824	broad.mit.edu	37	X	152159311	152159311	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:152159311G>T	ENST00000439251.1	-	2	1270	c.832C>A	c.(832-834)Ccc>Acc	p.P278T	PNMA5_ENST00000361887.5_Missense_Mutation_p.P278T|PNMA5_ENST00000535214.1_Missense_Mutation_p.P278T|PNMA5_ENST00000452693.1_Missense_Mutation_p.P278T	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	278					positive regulation of apoptotic process (GO:0043065)			p.P278T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGACAAGGGGCTCTTGTGC	0.557																																						uc010ntw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(832-834)CCC>ACC		paraneoplastic antigen like 5							53.0	53.0	53.0					X																	152159311		2203	4299	6502	SO:0001583	missense	114824				apoptosis			g.chrX:152159311G>T	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.832C>A	X.37:g.152159311G>T	ENSP00000388850:p.Pro278Thr					PNMA5_uc004fha.3_Missense_Mutation_p.P278T|PNMA5_uc010ntx.2_Missense_Mutation_p.P278T|PNMA5_uc004fgy.3_Missense_Mutation_p.P278T	p.P278T	NM_001103151	NP_001096621	Q96PV4	PNMA5_HUMAN			3	1171	-	Acute lymphoblastic leukemia(192;6.56e-05)		278					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.832C>A	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	g	10.55	1.382817	0.25031	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.09445	2.98;2.98;2.98;2.98	3.07	3.07	0.35406	.	.	.	.	.	T	0.10594	0.0259	L	0.44542	1.39	0.09310	N	1	B	0.30709	0.291	B	0.32289	0.143	T	0.16600	-1.0397	9	0.42905	T	0.14	0.3596	8.8853	0.35400	0.0:0.0:1.0:0.0	.	278	Q96PV4	PNMA5_HUMAN	T	278	ENSP00000354834:P278T;ENSP00000445775:P278T;ENSP00000388850:P278T;ENSP00000392342:P278T	ENSP00000354834:P278T	P	-	1	0	PNMA5	151909967	0.789000	0.28775	0.158000	0.22627	0.086000	0.17979	0.628000	0.24522	1.830000	0.53286	0.287000	0.19450	CCC		PASS	0.557	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		11	122	11	122	---	---	---	---
PLXNB3	5365	broad.mit.edu	37	X	153040421	153040421	+	Missense_Mutation	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:153040421G>T	ENST00000361971.5	+	24	4132	c.4018G>T	c.(4018-4020)Gcc>Tcc	p.A1340S	PLXNB3_ENST00000538282.1_Missense_Mutation_p.R974L|PLXNB3_ENST00000538776.1_Missense_Mutation_p.A993S|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A1363S|SRPK3_ENST00000489426.1_5'Flank	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1340					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)	p.A1340S(1)		central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCGAGCGCGCCTTCTTCCC	0.697																																						uc004fii.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(4018-4020)GCC>TCC		plexin B3 isoform 1							42.0	43.0	43.0					X																	153040421		2200	4291	6491	SO:0001583	missense	5365				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity	g.chrX:153040421G>T	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.4018G>T	X.37:g.153040421G>T	ENSP00000355378:p.Ala1340Ser					PLXNB3_uc010nuk.2_Missense_Mutation_p.A1363S|PLXNB3_uc011mzd.1_Missense_Mutation_p.A979S|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank	p.A1340S	NM_005393	NP_005384	Q9ULL4	PLXB3_HUMAN			24	4192	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		1340			Cytoplasmic (Potential).		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	c.4018G>T	CCDS14729.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.48|11.48	1.650941|1.650941	0.29336|0.29336	.|.	.|.	ENSG00000198753|ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776|ENST00000538282	T;T;T|T	0.11712|0.69435	2.75;2.75;2.75|-0.4	5.08|5.08	5.08|5.08	0.68730|0.68730	Plexin, cytoplasmic RasGAP domain (1);|.	0.185153|.	0.47093|.	D|.	0.000245|.	T|T	0.48241|0.48241	0.1489|0.1489	N|N	0.11427|0.11427	0.14|0.14	0.27090|0.27090	N|N	0.962867|0.962867	P;P;P|.	0.40660|.	0.726;0.638;0.726|.	P;B;P|.	0.49252|.	0.604;0.368;0.604|.	T|T	0.40403|0.40403	-0.9565|-0.9565	10|6	0.87932|.	D|.	0|.	.|.	10.0394|10.0394	0.42148|0.42148	0.0974:0.0:0.9026:0.0|0.0974:0.0:0.9026:0.0	.|.	993;1363;1340|.	B7Z3H9;F5H773;Q9ULL4|.	.;.;PLXB3_HUMAN|.	S|L	1363;1340;993|974	ENSP00000442736:A1363S;ENSP00000355378:A1340S;ENSP00000445569:A993S|ENSP00000441919:R974L	ENSP00000355378:A1340S|.	A|R	+|+	1|2	0|0	PLXNB3|PLXNB3	152693615|152693615	0.939000|0.939000	0.31865|0.31865	0.796000|0.796000	0.32109|0.32109	0.034000|0.034000	0.12701|0.12701	1.574000|1.574000	0.36482|0.36482	2.086000|2.086000	0.62901|0.62901	0.436000|0.436000	0.28706|0.28706	GCC|CGC		PASS	0.697	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1			9	57	9	57	---	---	---	---
IRAK1	3654	broad.mit.edu	37	X	153284161	153284161	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:153284161G>T	ENST00000369980.3	-	5	785	c.618C>A	c.(616-618)tcC>tcA	p.S206S	MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000393687.2_Silent_p.S206S|IRAK1_ENST00000429936.2_Silent_p.S232S|IRAK1_ENST00000477274.1_5'Flank|IRAK1_ENST00000369974.2_Silent_p.S206S|IRAK1_ENST00000393682.1_Silent_p.S232S	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	206	ProST region.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)	p.S206S(2)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGTGCCCCGGGAAATCTCAC	0.617																																						uc004fjs.1																			2	Substitution - coding silent(2)		lung(2)	lung(5)|ovary(2)|breast(1)|central_nervous_system(1)	9						c.(616-618)TCC>TCA		interleukin-1 receptor-associated kinase 1							62.0	58.0	59.0					X																	153284161		2203	4300	6503	SO:0001819	synonymous_variant	3654				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity	g.chrX:153284161G>T	L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.618C>A	X.37:g.153284161G>T						IRAK1_uc004fjr.1_Silent_p.S206S|IRAK1_uc004fjt.1_Silent_p.S206S|IRAK1_uc010nur.2_Intron|IRAK1_uc004fju.2_Silent_p.S232S	p.S206S	NM_001569	NP_001560	P51617	IRAK1_HUMAN			5	697	-	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		206			ProST region.		D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Silent	SNP	ENST00000369980.3	37	c.618C>A	CCDS14740.1																																																																																				PASS	0.617	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061143.3			12	83	12	83	---	---	---	---
CTAG2	30848	broad.mit.edu	37	X	153880866	153880866	+	Missense_Mutation	SNP	C	C	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:153880866C>A	ENST00000247306.4	-	2	372	c.309G>T	c.(307-309)gaG>gaT	p.E103D	CTAG2_ENST00000369585.3_Missense_Mutation_p.E103D	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	103						centrosome (GO:0005813)		p.E103D(3)		central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)					TGCGGACCAGCTCCGCTTCCA	0.617																																						uc004fmi.1																			3	Substitution - Missense(3)		lung(3)	pancreas(1)	1						c.(307-309)GAG>GAT		cancer/testis antigen 2 isoform LAGE-1b							42.0	40.0	41.0					X																	153880866		2203	4298	6501	SO:0001583	missense	30848					centrosome		g.chrX:153880866C>A	AJ012833	CCDS14759.1, CCDS35455.1	Xq28	2009-08-18			ENSG00000126890	ENSG00000126890			2492	protein-coding gene	gene with protein product	"""CTL-recognized antigen on melanoma"", ""LAGE-1a protein"", ""cancer/testis antigen family 6, member 2a"", ""cancer/testis antigen family 6, member 2b"""	300396				9626360, 10399963	Standard	NM_020994		Approved	LAGE-1, CAMEL, LAGE1, ESO2, MGC3803, MGC138724, CT6.2a, CT6.2b, LAGE-1a, LAGE-1b	uc004fmi.2	O75638	OTTHUMG00000024239	ENST00000247306.4:c.309G>T	X.37:g.153880866C>A	ENSP00000247306:p.Glu103Asp					CTAG2_uc004fmh.1_Missense_Mutation_p.E103D	p.E103D	NM_020994	NP_066274	O75638	CTAG2_HUMAN			2	362	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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)		103					O75637|Q0VIL6|Q14CD6|Q2Z1N4|Q9BU80|Q9UJ89|Q9Y479	Missense_Mutation	SNP	ENST00000247306.4	37	c.309G>T	CCDS14759.1	.	.	.	.	.	.	.	.	.	.	C	14.56	2.572711	0.45798	.	.	ENSG00000126890	ENST00000247306;ENST00000369585;ENST00000454505	T;T	0.34072	1.38;1.38	2.95	0.98	0.19750	.	.	.	.	.	T	0.35595	0.0937	L	0.56769	1.78	0.09310	N	1	P;P	0.46142	0.573;0.873	P;B	0.44647	0.456;0.439	T	0.20874	-1.0262	9	0.87932	D	0	-48.3093	6.3241	0.21234	0.2061:0.5959:0.198:0.0	.	103;103	O75638;O75638-2	CTAG2_HUMAN;.	D	103;103;45	ENSP00000247306:E103D;ENSP00000358598:E103D	ENSP00000247306:E103D	E	-	3	2	CTAG2	153534060	0.006000	0.16342	0.014000	0.15608	0.030000	0.12068	0.014000	0.13333	0.125000	0.18397	0.459000	0.35465	GAG		PASS	0.617	CTAG2-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061176.1	NM_020994		8	68	8	68	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157610	154157610	+	Silent	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:154157610G>T	ENST00000360256.4	-	14	4655	c.4455C>A	c.(4453-4455)gcC>gcA	p.A1485A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1485	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.A1485A(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTGAATTTGTGGCACTTGTCC	0.418																																						uc004fmt.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(4453-4455)GCC>GCA		coagulation factor VIII isoform a precursor	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						74.0	67.0	69.0					X																	154157610		2203	4299	6502	SO:0001819	synonymous_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157610G>T	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4455C>A	X.37:g.154157610G>T							p.A1485A	NM_000132	NP_000123	P00451	FA8_HUMAN			14	4626	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1485			B.		Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	c.4455C>A	CCDS35457.1																																																																																				PASS	0.418	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			11	111	11	111	---	---	---	---
FUNDC2	65991	broad.mit.edu	37	X	154261828	154261828	+	Splice_Site	SNP	G	G	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:154261828G>T	ENST00000369498.3	+	2	538	c.284G>T	c.(283-285)tGg>tTg	p.W95L	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	95						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.W95L(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GTCACTGGATGGTAAGTGATG	0.458																																						uc004fmw.2																			1	Substitution - Missense(1)		lung(1)		0						c.(283-285)TGG>TTG		FUN14 domain containing 2							144.0	124.0	131.0					X																	154261828		2203	4300	6503	SO:0001630	splice_region_variant	65991					mitochondrion		g.chrX:154261828G>T	AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.284+1G>T	X.37:g.154261828G>T							p.W95L	NM_023934	NP_076423	Q9BWH2	FUND2_HUMAN			2	434	+	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		95					B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Missense_Mutation	SNP	ENST00000369498.3	37	c.284G>T	CCDS14763.1	.	.	.	.	.	.	.	.	.	.	G	19.83	3.900997	0.72754	.	.	ENSG00000165775	ENST00000369498	.	.	.	5.04	4.17	0.49024	.	0.140076	0.52532	U	0.000077	T	0.69477	0.3115	L	0.58354	1.805	0.48901	D	0.999729	D	0.89917	1.0	D	0.87578	0.998	T	0.68364	-0.5428	9	0.45353	T	0.12	.	10.5736	0.45214	0.0978:0.0:0.9022:0.0	.	95	Q9BWH2	FUND2_HUMAN	L	95	.	ENSP00000358510:W95L	W	+	2	0	FUNDC2	153915022	1.000000	0.71417	0.940000	0.37924	0.989000	0.77384	6.769000	0.74985	1.032000	0.39892	0.594000	0.82650	TGG		PASS	0.458	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037641.3	NM_023934	Missense_Mutation	13	116	13	116	---	---	---	---
MAP4	4134	broad.mit.edu	37	3	47910733	47910733	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr3:47910733delC	ENST00000360240.6	-	14	3462	c.2944delG	c.(2944-2946)gcafs	p.A982fs	MAP4_ENST00000264724.11_Frame_Shift_Del_p.A717fs|MAP4_ENST00000420772.2_Intron|MAP4_ENST00000462206.1_5'Flank|MAP4_ENST00000441748.2_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000426837.2_Frame_Shift_Del_p.A2127fs|MAP4_ENST00000395734.3_Frame_Shift_Del_p.A982fs	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	982					cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	TGTGCACTTGCAATTGGGCCG	0.468																																						uc003csb.2																			0				ovary(2)|pancreas(1)	3						c.(2944-2946)GCAfs		microtubule-associated protein 4 isoform 1							145.0	145.0	145.0					3																	47910733		2203	4300	6503	SO:0001589	frameshift_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47910733delC		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.2944delG	3.37:g.47910733delC	ENSP00000353375:p.Ala982fs					MAP4_uc003csc.3_Frame_Shift_Del_p.A982fs|MAP4_uc003crw.2_Intron|MAP4_uc003crx.2_Intron|MAP4_uc011bbe.1_Intron|MAP4_uc003cry.2_Frame_Shift_Del_p.A717fs|MAP4_uc003csa.3_Intron|MAP4_uc003crz.3_RNA|MAP4_uc003csd.2_Frame_Shift_Del_p.A702fs	p.A982fs	NM_002375	NP_002366	P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	14	3470	-			982					Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Frame_Shift_Del	DEL	ENST00000360240.6	37	c.2944delG	CCDS33750.1																																																																																					0.468	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		78	58	78	58	---	---	---	---
NDST4	64579	broad.mit.edu	37	4	115997817	115997818	+	Frame_Shift_Ins	INS	-	-	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr4:115997817_115997818insT	ENST00000264363.2	-	2	1053_1054	c.375_376insA	c.(373-378)aaagggfs	p.G126fs		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	126	Heparan sulfate N-deacetylase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTATATTTCCCTTTGCCATTAT	0.376																																						uc003ibu.2																			0				skin(3)|ovary(1)	4						c.(373-378)AAAGGGfs		heparan sulfate N-deacetylase/N-sulfotransferase																																				SO:0001589	frameshift_variant	64579					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr4:115997817_115997818insT	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.376dupA	4.37:g.115997820_115997820dupT	ENSP00000264363:p.Gly126fs					NDST4_uc010imw.2_Intron	p.K125fs	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000562)	2	1054_1055	-		Ovarian(17;0.156)	125_126			Lumenal (Potential).|Heparan sulfate N-deacetylase 4.		Q2KHM8	Frame_Shift_Ins	INS	ENST00000264363.2	37	c.375_376insA	CCDS3706.1																																																																																					0.376	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569		64	33	64	33	---	---	---	---
PCDHGB3	56102	broad.mit.edu	37	5	140751962	140751963	+	Frame_Shift_Ins	INS	-	-	T			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr5:140751962_140751963insT	ENST00000576222.1	+	1	2132_2133	c.2001_2002insT	c.(2002-2004)ttgfs	p.L668fs	PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	668	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCAGATAGCTTGCAAGAGAT	0.589																																						uc003ljw.1																			0					0						c.(1999-2004)AGCTTGfs		protocadherin gamma subfamily B, 3 isoform 1																																				SO:0001589	frameshift_variant	56102				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140751962_140751963insT	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2003dupT	5.37:g.140751964_140751964dupT	ENSP00000461862:p.Leu668fs					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGA6_uc003ljy.1_5'Flank|PCDHGB3_uc011dat.1_Frame_Shift_Ins_p.S667fs|PCDHGA6_uc011dau.1_5'Flank	p.S667fs	NM_018924	NP_061747	Q9Y5G1	PCDGF_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2001_2002	+			667_668			Extracellular (Potential).|Cadherin 6.		A7E229|Q9Y5C7	Frame_Shift_Ins	INS	ENST00000576222.1	37	c.2001_2002insT	CCDS58980.1																																																																																					0.589	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		59	34	59	34	---	---	---	---
PRDM13	59336	broad.mit.edu	37	6	100061970	100061970	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr6:100061970delG	ENST00000369215.4	+	4	1764	c.1459delG	c.(1459-1461)ggcfs	p.G488fs		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	488					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ATTGCACTTCGGCGGGCTGCT	0.657																																						uc003pqg.1																			0					0						c.(1459-1461)GGCfs		PR domain containing 13							19.0	22.0	21.0					6																	100061970		1885	4093	5978	SO:0001589	frameshift_variant	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100061970delG	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1459delG	6.37:g.100061970delG	ENSP00000358217:p.Gly488fs						p.G487fs	NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	1720	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	487					Q5TGC1|Q5TGC2	Frame_Shift_Del	DEL	ENST00000369215.4	37	c.1459delG	CCDS43487.1																																																																																					0.657	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2			41	18	41	18	---	---	---	---
OR4A5	81318	broad.mit.edu	37	11	51411688	51411688	+	Frame_Shift_Del	DEL	G	G	-			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr11:51411688delG	ENST00000319760.6	-	1	760	c.708delC	c.(706-708)accfs	p.T236fs		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CGGAGCTGCAGGTAGACAAGG	0.408																																						uc001nhi.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(706-708)ACCfs		olfactory receptor, family 4, subfamily A,							64.0	64.0	64.0					11																	51411688		2201	4295	6496	SO:0001589	frameshift_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411688delG	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.708delC	11.37:g.51411688delG	ENSP00000367664:p.Thr236fs						p.T236fs	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	708	-		all_lung(304;0.236)	236			Helical; Name=6; (Potential).		Q6IF84	Frame_Shift_Del	DEL	ENST00000319760.6	37	c.708delC	CCDS31497.1																																																																																					0.408	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		84	41	84	41	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53907719	53907719	+	Frame_Shift_Del	DEL	A	A	-			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr15:53907719delA	ENST00000396328.1	-	15	2923	c.2684delT	c.(2683-2685)ttgfs	p.L895fs	WDR72_ENST00000360509.5_Frame_Shift_Del_p.L895fs|WDR72_ENST00000559418.1_Frame_Shift_Del_p.L905fs|WDR72_ENST00000557913.1_Frame_Shift_Del_p.L892fs	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	895										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGACTCTCGCAAAGAATCACA	0.338																																						uc002acj.2																			0				lung(1)|skin(1)	2						c.(2683-2685)TTGfs		WD repeat domain 72							47.0	48.0	47.0					15																	53907719		2194	4293	6487	SO:0001589	frameshift_variant	256764							g.chr15:53907719delA	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2684delT	15.37:g.53907719delA	ENSP00000379619:p.Leu895fs					WDR72_uc010bfi.1_Frame_Shift_Del_p.L895fs	p.L895fs	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2726	-			895					Q7Z3I3|Q8N8X2	Frame_Shift_Del	DEL	ENST00000396328.1	37	c.2684delT	CCDS10151.1																																																																																					0.338	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		96	49	96	49	---	---	---	---
GRIN3B	116444	broad.mit.edu	37	19	1004702	1004702	+	Frame_Shift_Del	DEL	C	C	-			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chr19:1004702delC	ENST00000234389.3	+	3	1221	c.1202delC	c.(1201-1203)gccfs	p.A401fs	GRIN3B_ENST00000588335.1_Intron|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	401					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGGGAGGTGCCTCTGCACGG	0.687																																						uc002lqo.1																			0					0						c.(1201-1203)GCCfs		glutamate receptor, ionotropic,	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						20.0	21.0	20.0					19																	1004702		2191	4291	6482	SO:0001589	frameshift_variant	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1004702delC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1202delC	19.37:g.1004702delC	ENSP00000234389:p.Ala401fs						p.A401fs	NM_138690	NP_619635	O60391	NMD3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1202	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	401			Extracellular (Potential).		Q5EAK7|Q7RTW9	Frame_Shift_Del	DEL	ENST00000234389.3	37	c.1202delC	CCDS32861.1																																																																																					0.687	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			11	7	11	7	---	---	---	---
NAP1L3	4675	broad.mit.edu	37	X	92926883	92926884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-22-4613-01A-01D-1441-08	TCGA-22-4613-11A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5d1d538a-57d3-42ec-9fa3-0fad10b0f52f	25e6e3ee-3ad5-4f6e-9f65-4483d84e8dc1	g.chrX:92926883_92926884insA	ENST00000373079.3	-	1	1683_1684	c.1420_1421insT	c.(1420-1422)gatfs	p.D474fs	FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_Frame_Shift_Ins_p.D467fs	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	474					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						GATGACATTATCATGTAAAATC	0.366																																						uc004efq.2																			0				ovary(1)|skin(1)	2						c.(1420-1422)GATfs		nucleosome assembly protein 1-like 3																																				SO:0001589	frameshift_variant	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92926883_92926884insA		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1420_1421insT	X.37:g.92926883_92926884insA	ENSP00000362171:p.Asp474fs					FAM133A_uc004efr.1_5'Flank	p.D474fs	NM_004538	NP_004529	Q99457	NP1L3_HUMAN			1	1725_1726	-			474					B2RCM0|O60788	Frame_Shift_Ins	INS	ENST00000373079.3	37	c.1420_1421insT	CCDS14465.1																																																																																					0.366	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		51	30	51	30	---	---	---	---
