#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
HSPG2	3339	broad.mit.edu	37	1	22216521	22216521	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:22216521G>C	ENST00000374695.3	-	6	606	c.527C>G	c.(526-528)tCc>tGc	p.S176C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	176	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.S176C(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGTGACGTAGGAGGCCACAGA	0.617																																						uc001bfj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(526-528)TCC>TGC		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						143.0	128.0	133.0					1																	22216521		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22216521G>C	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.527C>G	1.37:g.22216521G>C	ENSP00000363827:p.Ser176Cys					HSPG2_uc009vqd.2_Missense_Mutation_p.S176C|HSPG2_uc009vqe.1_Missense_Mutation_p.P75A	p.S176C	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	6	567	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	176			SEA.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.527C>G	CCDS30625.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.07|15.07	2.722939|2.722939	0.48728|0.48728	.|.	.|.	ENSG00000142798|ENSG00000142798	ENST00000412328|ENST00000374695;ENST00000439717	T|T;T	0.54675|0.77620	0.56|-1.11;0.66	5.34|5.34	5.34|5.34	0.76211|0.76211	.|SEA (2);	.|0.303702	.|0.20033	.|N	.|0.100669	T|T	0.76227|0.76227	0.3958|0.3958	L|L	0.29908|0.29908	0.895|0.895	0.51482|0.51482	D|D	0.999924|0.999924	D|D	0.76494|0.61697	0.999|0.99	D|P	0.71656|0.50659	0.974|0.647	T|T	0.78738|0.78738	-0.2087|-0.2087	9|10	0.52906|0.66056	T|D	0.07|0.02	.|.	16.5843|16.5843	0.84723|0.84723	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	99|176	Q5SZI5|P98160	.|PGBM_HUMAN	A|C	99|176;142	ENSP00000405412:P99A|ENSP00000363827:S176C;ENSP00000395884:S142C	ENSP00000405412:P99A|ENSP00000363827:S176C	P|S	-|-	1|2	0|0	HSPG2|HSPG2	22089108|22089108	1.000000|1.000000	0.71417|0.71417	0.950000|0.950000	0.38849|0.38849	0.130000|0.130000	0.20726|0.20726	8.686000|8.686000	0.91250|0.91250	2.785000|2.785000	0.95823|0.95823	0.585000|0.585000	0.79938|0.79938	CCT|TCC		PASS	0.617	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		32	49	32	49	---	---	---	---
IPO13	9670	broad.mit.edu	37	1	44415579	44415579	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:44415579C>A	ENST00000372343.3	+	2	1237	c.575C>A	c.(574-576)aCc>aAc	p.T192N		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	192					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.T192N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTGGTGCGGACCAGCCTGGCG	0.642																																						uc001ckx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(574-576)ACC>AAC		importin 13							18.0	19.0	19.0					1																	44415579		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415579C>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.575C>A	1.37:g.44415579C>A	ENSP00000361418:p.Thr192Asn						p.T192N	NM_014652	NP_055467	O94829	IPO13_HUMAN			2	1370	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	192			HEAT 1.		D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.575C>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.253610	0.22965	.	.	ENSG00000117408	ENST00000372343	T	0.40476	1.03	5.46	5.46	0.80206	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.290077	0.42682	D	0.000678	T	0.20007	0.0481	N	0.02539	-0.55	0.80722	D	1	B	0.10296	0.003	B	0.13407	0.009	T	0.11792	-1.0573	10	0.23302	T	0.38	-10.2275	13.8882	0.63721	0.0:0.7236:0.2764:0.0	.	192	O94829	IPO13_HUMAN	N	192	ENSP00000361418:T192N	ENSP00000361418:T192N	T	+	2	0	IPO13	44188166	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	5.150000	0.64869	2.583000	0.87209	0.491000	0.48974	ACC		PASS	0.642	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		3	23	3	23	---	---	---	---
RPE65	6121	broad.mit.edu	37	1	68910338	68910338	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:68910338C>A	ENST00000262340.5	-	5	424	c.371G>T	c.(370-372)cGa>cTa	p.R124L		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	124					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)	p.R124L(1)		central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CTCTACTCCTCGAAAGTAAGA	0.363																																						uc001dei.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(370-372)CGA>CTA		retinal pigment epithelium-specific protein							59.0	62.0	61.0					1																	68910338		2203	4300	6503	SO:0001583	missense	6121				visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity	g.chr1:68910338C>A	U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.371G>T	1.37:g.68910338C>A	ENSP00000262340:p.Arg124Leu						p.R124L	NM_000329	NP_000320	Q16518	RPE65_HUMAN			5	425	-			124					A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	c.371G>T	CCDS643.1	.	.	.	.	.	.	.	.	.	.	C	13.01	2.107923	0.37242	.	.	ENSG00000116745	ENST00000262340	D	0.94828	-3.53	5.05	2.98	0.34508	.	0.595355	0.17781	N	0.162247	D	0.84120	0.5402	L	0.55990	1.75	0.36904	D	0.890555	B	0.09022	0.002	B	0.17433	0.018	T	0.73975	-0.3813	10	0.17369	T	0.5	-2.5107	6.3065	0.21141	0.0:0.544:0.0:0.456	.	124	Q16518	RPE65_HUMAN	L	124	ENSP00000262340:R124L	ENSP00000262340:R124L	R	-	2	0	RPE65	68682926	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	0.770000	0.26618	0.595000	0.29777	0.655000	0.94253	CGA		PASS	0.363	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1	NM_000329		26	41	26	41	---	---	---	---
BRDT	676	broad.mit.edu	37	1	92441989	92441989	+	Silent	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:92441989G>T	ENST00000362005.3	+	6	1030	c.612G>T	c.(610-612)gcG>gcT	p.A204A	BRDT_ENST00000402388.1_Silent_p.A204A|BRDT_ENST00000399546.2_Silent_p.A204A|BRDT_ENST00000394530.3_Silent_p.A158A|BRDT_ENST00000370389.2_Silent_p.A131A	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	204					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)	p.A204A(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CACAAACTGCGGCCCAAGTAA	0.353																																						uc001dok.3																			1	Substitution - coding silent(1)		lung(1)	stomach(2)|ovary(1)|lung(1)	4						c.(610-612)GCG>GCT		testis-specific bromodomain protein							60.0	57.0	58.0					1																	92441989		2203	4300	6503	SO:0001819	synonymous_variant	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92441989G>T	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.612G>T	1.37:g.92441989G>T						BRDT_uc001dol.3_Silent_p.A204A|BRDT_uc010osz.1_Silent_p.A208A|BRDT_uc009wdf.2_Silent_p.A131A|BRDT_uc010ota.1_Silent_p.A158A|BRDT_uc010otb.1_Silent_p.A158A|BRDT_uc001dom.3_Silent_p.A204A	p.A204A	NM_207189	NP_997072	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	5	961	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	204					A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Silent	SNP	ENST00000362005.3	37	c.612G>T	CCDS735.1																																																																																				PASS	0.353	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		21	39	21	39	---	---	---	---
NOTCH2NL	388677	broad.mit.edu	37	1	145281588	145281588	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:145281588G>T	ENST00000369340.3	+	5	962	c.518G>T	c.(517-519)gGc>gTc	p.G173V	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G173V|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G173V|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G173V			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	173	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G173V(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGCCTTCAGGGCTTCACAGGC	0.562																																						uc001emn.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(517-519)GGC>GTC		Notch homolog 2 N-terminal like protein							181.0	182.0	182.0					1																	145281588		2203	4300	6503	SO:0001583	missense	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281588G>T		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.518G>T	1.37:g.145281588G>T	ENSP00000358346:p.Gly173Val					NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Missense_Mutation_p.G173V|NOTCH2NL_uc001emo.2_Missense_Mutation_p.G173V|NOTCH2NL_uc010oyh.1_RNA	p.G173V	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			4	888	+			173			EGF-like 5; calcium-binding (Potential).		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Missense_Mutation	SNP	ENST00000369340.3	37	c.518G>T	CCDS909.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417218	0.42918	.	.	ENSG00000213240	ENST00000362074;ENST00000344859;ENST00000369340	D;D;D	0.86769	-2.17;-2.17;-2.17	2.87	2.87	0.33458	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.94138	0.8120	H	0.96301	3.8	0.50039	D	0.999846	D;D	0.89917	0.992;1.0	P;D	0.75484	0.893;0.986	D	0.94914	0.8067	9	0.87932	D	0	.	11.5361	0.50639	0.0:0.0:1.0:0.0	.	173;173	Q7Z3S9-2;Q7Z3S9	.;NT2NL_HUMAN	V	173	ENSP00000354929:G173V;ENSP00000344557:G173V;ENSP00000358346:G173V	ENSP00000344557:G173V	G	+	2	0	NOTCH2NL	143992945	1.000000	0.71417	0.998000	0.56505	0.497000	0.33675	3.763000	0.55257	1.601000	0.50113	0.400000	0.26472	GGC		PASS	0.562	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		18	203	18	203	---	---	---	---
HFE2	148738	broad.mit.edu	37	1	145415545	145415545	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:145415545C>A	ENST00000336751.5	+	3	602	c.364C>A	c.(364-366)Cag>Aag	p.Q122K	HFE2_ENST00000357836.5_Missense_Mutation_p.Q9K|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	122					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.Q122K(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCTCCCGCCAGGGCCCTAC	0.711																																						uc001eni.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(364-366)CAG>AAG		hemojuvelin isoform a precursor							22.0	25.0	24.0					1																	145415545		2202	4298	6500	SO:0001583	missense	148738				axon guidance	anchored to membrane		g.chr1:145415545C>A	AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.364C>A	1.37:g.145415545C>A	ENSP00000337014:p.Gln122Lys					NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Intron|HFE2_uc001enk.2_Missense_Mutation_p.Q9K|HFE2_uc001enl.2_Intron	p.Q122K	NM_213653	NP_998818	Q6ZVN8	RGMC_HUMAN			3	689	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		122					B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	c.364C>A	CCDS910.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558787	0.45590	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.97256	-4.31;-4.31	4.62	3.7	0.42460	Repulsive guidance molecule, N-terminal (1);	0.576189	0.16394	N	0.216340	D	0.90841	0.7123	L	0.36672	1.1	0.80722	D	1	B	0.22604	0.072	B	0.22753	0.041	D	0.87894	0.2686	10	0.41790	T	0.15	-10.3466	11.3137	0.49379	0.0:0.5954:0.4046:0.0	.	122	Q6ZVN8	RGMC_HUMAN	K	9;122	ENSP00000350495:Q9K;ENSP00000337014:Q122K	ENSP00000337014:Q122K	Q	+	1	0	HFE2	144126902	0.993000	0.37304	0.961000	0.40146	0.591000	0.36615	2.609000	0.46317	1.140000	0.42260	0.558000	0.71614	CAG		PASS	0.711	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277		10	42	10	42	---	---	---	---
TRIM46	80128	broad.mit.edu	37	1	155148600	155148600	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:155148600G>A	ENST00000334634.4	+	3	562	c.562G>A	c.(562-564)Gag>Aag	p.E188K	TRIM46_ENST00000368383.3_Missense_Mutation_p.E188K|TRIM46_ENST00000368382.1_Missense_Mutation_p.E165K|TRIM46_ENST00000392451.2_Missense_Mutation_p.E188K|TRIM46_ENST00000545012.1_Missense_Mutation_p.E62K|KRTCAP2_ENST00000490672.1_5'Flank|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368385.4_Missense_Mutation_p.E188K|TRIM46_ENST00000543729.1_Missense_Mutation_p.E195K|KRTCAP2_ENST00000295682.4_5'Flank|RP11-201K10.3_ENST00000473363.2_Intron	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	188						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E188K(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGCTGCACAGAGTGCCGCGC	0.642																																						uc001fhs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(562-564)GAG>AAG		tripartite motif-containing 46							92.0	86.0	88.0					1																	155148600		2203	4300	6503	SO:0001583	missense	80128					intracellular	zinc ion binding	g.chr1:155148600G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.562G>A	1.37:g.155148600G>A	ENSP00000334657:p.Glu188Lys					RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fho.2_5'Flank|KRTCAP2_uc001fhp.1_5'Flank|TRIM46_uc009wpe.1_RNA|TRIM46_uc010pez.1_Missense_Mutation_p.E175K|TRIM46_uc001fhq.2_RNA|TRIM46_uc001fhr.2_Missense_Mutation_p.E188K|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Missense_Mutation_p.E62K|TRIM46_uc001fhu.1_Missense_Mutation_p.E165K|TRIM46_uc009wpg.1_Missense_Mutation_p.E175K|TRIM46_uc009wpf.2_3'UTR|TRIM46_uc001fhv.3_Missense_Mutation_p.E175K|TRIM46_uc001fhw.1_RNA	p.E188K	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	645	+	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		188			RING-type 2; degenerate.		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Missense_Mutation	SNP	ENST00000334634.4	37	c.562G>A	CCDS1097.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332620	0.81801	.	.	ENSG00000163462	ENST00000543729;ENST00000430513;ENST00000368385;ENST00000545012;ENST00000392451;ENST00000368383;ENST00000368382;ENST00000334634	T;T;T;T;T;T;T	0.66638	0.78;0.54;-0.22;0.72;0.48;0.26;0.3	5.36	5.36	0.76844	.	0.054750	0.64402	D	0.000001	T	0.43055	0.1230	N	0.17474	0.49	0.50632	D	0.999883	P;P;P;P;P	0.47409	0.884;0.791;0.895;0.456;0.782	B;B;B;B;B	0.41764	0.306;0.366;0.281;0.277;0.325	T	0.51857	-0.8652	10	0.49607	T	0.09	.	16.9524	0.86249	0.0:0.0:1.0:0.0	.	175;188;165;188;188	F5H5Z2;Q5VT61;B1AVQ4;Q7Z4K8;Q7Z4K8-2	.;.;.;TRI46_HUMAN;.	K	195;175;188;62;188;188;165;188	ENSP00000442719:E195K;ENSP00000357369:E188K;ENSP00000440254:E62K;ENSP00000376245:E188K;ENSP00000357367:E188K;ENSP00000357366:E165K;ENSP00000334657:E188K	ENSP00000334657:E188K	E	+	1	0	TRIM46	153415224	1.000000	0.71417	0.980000	0.43619	0.992000	0.81027	7.473000	0.81007	2.666000	0.90696	0.655000	0.94253	GAG		PASS	0.642	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1	NM_025058		31	89	31	89	---	---	---	---
HCN3	57657	broad.mit.edu	37	1	155252472	155252472	+	Silent	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:155252472G>T	ENST00000368358.3	+	2	557	c.549G>T	c.(547-549)gtG>gtT	p.V183V	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	183					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.V183V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTATCCCTGTGGATTACATCT	0.592																																						uc001fjz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(547-549)GTG>GTT		hyperpolarization activated cyclic							88.0	79.0	82.0					1																	155252472		2203	4300	6503	SO:0001819	synonymous_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155252472G>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.549G>T	1.37:g.155252472G>T						RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR	p.V183V	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	557	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		183			Helical; Name=Segment S3; (Potential).		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	c.549G>T	CCDS1108.1																																																																																				PASS	0.592	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1	NM_020897		18	48	18	48	---	---	---	---
ETV3	2117	broad.mit.edu	37	1	157105292	157105292	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:157105292C>T	ENST00000368192.4	-	3	319	c.255G>A	c.(253-255)atG>atA	p.M85I	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Missense_Mutation_p.M85I	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	85					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.M85I(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGTCATAATTCATCTGTGGTT	0.507																																						uc001fqr.2																			2	Substitution - Missense(2)		lung(2)		0						c.(253-255)ATG>ATA		ets variant gene 3 isoform 1							58.0	59.0	59.0					1																	157105292		2203	4300	6503	SO:0001583	missense	2117						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:157105292C>T	BC022868	CCDS1164.1, CCDS44250.1	1q21-q23	2008-09-12	2008-09-12		ENSG00000117036	ENSG00000117036			3492	protein-coding gene	gene with protein product		164873	"""ets variant gene 3, ETS family transcriptional repressor"", ""ets variant gene 3"""			8020980	Standard	NM_005240		Approved	PE-1	uc001fqr.2	P41162	OTTHUMG00000034298	ENST00000368192.4:c.255G>A	1.37:g.157105292C>T	ENSP00000357175:p.Met85Ile					ETV3_uc001fqt.2_Missense_Mutation_p.M85I	p.M85I	NM_001145312	NP_001138784	P41162	ETV3_HUMAN			3	544	-	Hepatocellular(266;0.158)	Prostate(1639;0.174)	85			ETS.		B4E3M7|Q8TAC8|Q9BX30	Missense_Mutation	SNP	ENST00000368192.4	37	c.255G>A	CCDS44250.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.523754	0.85600	.	.	ENSG00000117036	ENST00000368192;ENST00000326786	T;T	0.64991	-0.13;-0.13	5.62	5.62	0.85841	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.85682	D	0.000000	T	0.81484	0.4832	M	0.89715	3.055	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.91635	0.995;0.999	D	0.84843	0.0809	10	0.87932	D	0	.	18.4165	0.90572	0.0:1.0:0.0:0.0	.	85;85	P41162-2;P41162	.;ETV3_HUMAN	I	85	ENSP00000357175:M85I;ENSP00000327316:M85I	ENSP00000327316:M85I	M	-	3	0	ETV3	155371916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.768000	0.85345	2.647000	0.89833	0.655000	0.94253	ATG		PASS	0.507	ETV3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082843.2	NM_005240		16	68	16	68	---	---	---	---
PYHIN1	149628	broad.mit.edu	37	1	158943500	158943500	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:158943500G>T	ENST00000368140.1	+	8	1668	c.1423G>T	c.(1423-1425)Gtg>Ttg	p.V475L	PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000368138.3_Missense_Mutation_p.V466L	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	475					cell cycle (GO:0007049)	nucleus (GO:0005634)		p.V475L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					CTCACCAACTGTGGCCCCTCC	0.443																																						uc001ftb.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(1)	4						c.(1423-1425)GTG>TTG		pyrin and HIN domain family, member 1 alpha 1							165.0	146.0	152.0					1																	158943500		2203	4300	6503	SO:0001583	missense	149628				cell cycle	nuclear speck		g.chr1:158943500G>T	AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.1423G>T	1.37:g.158943500G>T	ENSP00000357122:p.Val475Leu					PYHIN1_uc001ftc.2_Missense_Mutation_p.V466L|PYHIN1_uc001ftd.2_Intron|PYHIN1_uc001fte.2_Intron	p.V475L	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN			8	1668	+	all_hematologic(112;0.0378)		475					Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	ENST00000368140.1	37	c.1423G>T	CCDS1178.1	.	.	.	.	.	.	.	.	.	.	G	6.262	0.416535	0.11870	.	.	ENSG00000163564	ENST00000368140;ENST00000368138	T;T	0.05786	3.41;3.39	1.82	0.826	0.18829	.	.	.	.	.	T	0.01029	0.0034	N	0.08118	0	0.09310	N	1	B;B	0.14438	0.01;0.006	B;B	0.12837	0.008;0.003	T	0.47861	-0.9084	9	0.87932	D	0	.	4.6895	0.12774	0.2034:0.0:0.7966:0.0	.	466;475	Q6K0P9-2;Q6K0P9	.;IFIX_HUMAN	L	475;466	ENSP00000357122:V475L;ENSP00000357120:V466L	ENSP00000357120:V466L	V	+	1	0	PYHIN1	157210124	0.000000	0.05858	0.002000	0.10522	0.061000	0.15899	-0.486000	0.06513	0.287000	0.22375	0.558000	0.71614	GTG		PASS	0.443	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090110.1	NM_152501		23	75	23	75	---	---	---	---
C1orf111	284680	broad.mit.edu	37	1	162343862	162343862	+	Silent	SNP	G	G	T	rs201331788		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:162343862G>T	ENST00000367935.5	-	3	841	c.762C>A	c.(760-762)ggC>ggA	p.G254G	RP11-565P22.6_ENST00000431696.1_Intron	NM_182581.3	NP_872387.2	Q5T0L3	CA111_HUMAN	chromosome 1 open reading frame 111	254								p.G254G(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11	all_hematologic(112;0.15)		BRCA - Breast invasive adenocarcinoma(70;0.0938)			AGGCTTCACCGCCAATTTGCC	0.567																																						uc001gbx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(760-762)GGC>GGA		hypothetical protein LOC284680							176.0	186.0	183.0					1																	162343862		2203	4300	6503	SO:0001819	synonymous_variant	284680							g.chr1:162343862G>T	BC032957	CCDS1238.1	1q23.3	2008-02-05			ENSG00000171722	ENSG00000171722			27648	protein-coding gene	gene with protein product						12477932	Standard	NM_182581		Approved		uc001gbx.2	Q5T0L3	OTTHUMG00000031375	ENST00000367935.5:c.762C>A	1.37:g.162343862G>T							p.G254G	NM_182581	NP_872387	Q5T0L3	CA111_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0938)		3	826	-	all_hematologic(112;0.15)		254					Q6X961|Q8NEC3	Silent	SNP	ENST00000367935.5	37	c.762C>A	CCDS1238.1																																																																																				PASS	0.567	C1orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076791.2	NM_182581		67	261	67	261	---	---	---	---
KIFAP3	22920	broad.mit.edu	37	1	169951129	169951129	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:169951129G>A	ENST00000361580.2	-	15	2009	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	KIFAP3_ENST00000367767.1_Silent_p.L550L|KIFAP3_ENST00000367765.1_Silent_p.L554L|KIFAP3_ENST00000540905.1_Silent_p.L296L|KIFAP3_ENST00000538366.1_Silent_p.L516L	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	594					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)	p.L594L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAATTCAATGAGTGCAGGGA	0.303																																						uc001ggv.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1780-1782)CTC>CTT		kinesin-associated protein 3							95.0	89.0	91.0					1																	169951129		2203	4300	6503	SO:0001819	synonymous_variant	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:169951129G>A	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.1782C>T	1.37:g.169951129G>A						KIFAP3_uc010plx.1_Silent_p.L296L	p.L594L	NM_014970	NP_055785	Q92845	KIFA3_HUMAN			15	2053	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		594			ARM 4.		B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Silent	SNP	ENST00000361580.2	37	c.1782C>T	CCDS1288.1																																																																																				PASS	0.303	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		11	32	11	32	---	---	---	---
MROH9	80133	broad.mit.edu	37	1	170940928	170940928	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:170940928G>A	ENST00000367758.3	+	8	619	c.520G>A	c.(520-522)Gag>Aag	p.E174K	MROH9_ENST00000367759.4_Missense_Mutation_p.E174K	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	174								p.E174K(2)									CCTGGCAGCAGAGCTGTCTCT	0.438																																						uc001ghg.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(520-522)GAG>AAG		hypothetical protein LOC80133 isoform 2							315.0	285.0	295.0					1																	170940928		1959	4134	6093	SO:0001583	missense	80133						binding	g.chr1:170940928G>A	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.520G>A	1.37:g.170940928G>A	ENSP00000356732:p.Glu174Lys					C1orf129_uc009wvy.2_5'UTR|C1orf129_uc010plz.1_Missense_Mutation_p.E174K	p.E174K	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			8	650	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		174					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.520G>A	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568996	0.65765	.	.	ENSG00000117501	ENST00000367759;ENST00000367758	T;T	0.31769	4.08;1.48	5.25	5.25	0.73442	.	0.000000	0.56097	D	0.000021	T	0.45276	0.1334	M	0.67953	2.075	0.36936	D	0.892147	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.48293	-0.9048	10	0.62326	D	0.03	-25.0644	14.3448	0.66654	0.0:0.0:1.0:0.0	.	174;174	F5GWX6;Q5TGP6	.;CA129_HUMAN	K	174	ENSP00000356733:E174K;ENSP00000356732:E174K	ENSP00000356732:E174K	E	+	1	0	C1orf129	169207552	1.000000	0.71417	0.996000	0.52242	0.540000	0.34992	4.407000	0.59754	2.438000	0.82558	0.655000	0.94253	GAG		PASS	0.438	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		58	241	58	241	---	---	---	---
FMO1	2326	broad.mit.edu	37	1	171244533	171244533	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:171244533C>G	ENST00000354841.4	+	3	501	c.370C>G	c.(370-372)Caa>Gaa	p.Q124E	FMO1_ENST00000367750.3_Missense_Mutation_p.Q124E|FMO1_ENST00000402921.2_Missense_Mutation_p.Q61E|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	124					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.Q124E(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	TGTCTCTGGCCAATGGGAGGT	0.423																																						uc009wvz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(370-372)CAA>GAA		flavin containing monooxygenase 1							149.0	137.0	141.0					1																	171244533		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171244533C>G	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.370C>G	1.37:g.171244533C>G	ENSP00000346901:p.Gln124Glu					FMO1_uc010pme.1_Missense_Mutation_p.Q61E|FMO1_uc001ghl.2_Missense_Mutation_p.Q124E|FMO1_uc001ghm.2_Missense_Mutation_p.Q124E|FMO1_uc001ghn.2_Missense_Mutation_p.Q124E	p.Q124E	NM_002021	NP_002012	Q01740	FMO1_HUMAN			4	506	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		124					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.370C>G	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787805	0.70337	.	.	ENSG00000010932	ENST00000367750;ENST00000433267;ENST00000402921;ENST00000354841	T;T;T;T	0.60040	0.22;0.22;0.22;0.22	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.68869	0.3048	M	0.70787	2.145	0.53688	D	0.999975	D;P;D	0.61697	0.99;0.878;0.99	P;P;P	0.62491	0.903;0.798;0.869	T	0.70831	-0.4765	10	0.59425	D	0.04	-13.6385	18.2169	0.89889	0.0:1.0:0.0:0.0	.	61;124;124	B7Z3P4;B2RCG5;Q01740	.;.;FMO1_HUMAN	E	124;124;61;124	ENSP00000356724:Q124E;ENSP00000406982:Q124E;ENSP00000385543:Q61E;ENSP00000346901:Q124E	ENSP00000346901:Q124E	Q	+	1	0	FMO1	169511157	1.000000	0.71417	0.997000	0.53966	0.431000	0.31685	4.881000	0.63114	2.649000	0.89929	0.557000	0.71058	CAA		PASS	0.423	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		21	66	21	66	---	---	---	---
PRRC2C	23215	broad.mit.edu	37	1	171504714	171504714	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:171504714C>G	ENST00000338920.4	+	13	2252	c.2015C>G	c.(2014-2016)cCt>cGt	p.P672R	PRRC2C_ENST00000367742.3_Missense_Mutation_p.P674R|PRRC2C_ENST00000392078.3_Missense_Mutation_p.P674R|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P672R	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	672	Gln-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)	p.P674R(2)									AAGTCTTTACCTCCACGATTC	0.413																																						uc010pmg.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2014-2016)CCT>CGT		HBxAg transactivated protein 2							135.0	146.0	142.0					1																	171504714		2203	4300	6503	SO:0001583	missense	23215						protein C-terminus binding	g.chr1:171504714C>G	AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.2015C>G	1.37:g.171504714C>G	ENSP00000343629:p.Pro672Arg						p.P672R	NM_015172	NP_055987	Q9Y520	PRC2C_HUMAN			13	2281	+			672			Gln-rich.		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	ENST00000338920.4	37	c.2015C>G	CCDS1296.2	.	.	.	.	.	.	.	.	.	.	C	15.25	2.776604	0.49786	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920;ENST00000392080;ENST00000483654	T;T;T;T	0.17528	2.27;2.27;2.27;2.27	5.52	5.52	0.82312	.	0.000000	0.46758	D	0.000278	T	0.38161	0.1030	M	0.74647	2.275	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24977	-1.0145	10	0.87932	D	0	.	19.4602	0.94914	0.0:1.0:0.0:0.0	.	672	Q9Y520-4	.	R	674;673;672;674;672;429;431	ENSP00000375928:P674R;ENSP00000410219:P672R;ENSP00000356716:P674R;ENSP00000343629:P672R	ENSP00000343629:P672R	P	+	2	0	PRRC2C	169771338	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.506000	0.66993	2.590000	0.87494	0.655000	0.94253	CCT		PASS	0.413	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314826.4	NM_015172		49	176	49	176	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176564197	176564198	+	Missense_Mutation	DNP	CA	CA	AC			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:176564197_176564198CA>AC	ENST00000367662.3	+	3	2621_2622	c.1457_1458CA>AC	c.(1456-1458)cCA>cAC	p.P486H	PAPPA2_ENST00000367661.3_Missense_Mutation_p.P486H	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	486	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.P486Q(2)|p.P486H(2)|p.P486P(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCTTTGAGCCAGAGCCTGAGA	0.53																																						uc001gkz.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(1456-1458)CCA>CAA|c.(1456-1458)CCA>CCC		pappalysin 2 isoform 1																																				SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176564197C>A|g.chr1:176564198A>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	Exception_encountered	1.37:g.176564197_176564198delinsAC	ENSP00000356634:p.Pro486His					PAPPA2_uc001gky.1_Missense_Mutation_p.P486Q|PAPPA2_uc009www.2_RNA|PAPPA2_uc001gky.1_Silent_p.P486P|PAPPA2_uc009www.2_RNA	p.P486Q|p.P486P	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			3	2621|2622	+			486			Metalloprotease.		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation|Silent	SNP	ENST00000367662.3	37	c.1457C>A|c.1458A>C	CCDS41438.1																																																																																				PASS	0.530	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			21	68|67	21	67	---	---	---	---
PAPPA2	60676	broad.mit.edu	37	1	176709227	176709227	+	Missense_Mutation	SNP	G	G	C	rs368783359		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:176709227G>C	ENST00000367662.3	+	14	5210	c.4046G>C	c.(4045-4047)cGg>cCg	p.R1349P		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1349					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R1349P(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCATCCCCACGGGTCGGCATC	0.522																																						uc001gkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1)	16						c.(4045-4047)CGG>CCG		pappalysin 2 isoform 1							166.0	163.0	164.0					1																	176709227		2038	4190	6228	SO:0001583	missense	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176709227G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4046G>C	1.37:g.176709227G>C	ENSP00000356634:p.Arg1349Pro					PAPPA2_uc009www.2_RNA	p.R1349P	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN			14	5210	+			1349					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	c.4046G>C	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420097	0.25552	.	.	ENSG00000116183	ENST00000367662	T	0.01599	4.74	5.91	3.63	0.41609	.	0.664334	0.15667	N	0.250580	T	0.02156	0.0067	L	0.40543	1.245	0.09310	N	1	B	0.30763	0.294	B	0.34873	0.191	T	0.43893	-0.9363	10	0.56958	D	0.05	-0.507	5.3577	0.16071	0.0:0.143:0.1665:0.6906	.	1349	Q9BXP8	PAPP2_HUMAN	P	1349	ENSP00000356634:R1349P	ENSP00000356634:R1349P	R	+	2	0	PAPPA2	174975850	0.022000	0.18835	0.621000	0.29145	0.664000	0.39144	1.821000	0.39041	1.067000	0.40740	-0.262000	0.10625	CGG		PASS	0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			32	118	32	118	---	---	---	---
BRINP2	57795	broad.mit.edu	37	1	177249550	177249550	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:177249550C>T	ENST00000361539.4	+	8	1550	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	413					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.S413F(1)									TCCCCAAGGTCCTTGTCCTAC	0.527																																						uc001glf.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1237-1239)TCC>TTC		family with sequence similarity 5, member B							79.0	76.0	77.0					1																	177249550		2203	4300	6503	SO:0001583	missense	57795					extracellular region		g.chr1:177249550C>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.1238C>T	1.37:g.177249550C>T	ENSP00000354481:p.Ser413Phe					FAM5B_uc001glg.2_Missense_Mutation_p.S308F	p.S413F	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN			8	1550	+			413					O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	37	c.1238C>T	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	C	12.03	1.816009	0.32145	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.16457	2.34	5.41	5.41	0.78517	.	0.326164	0.33401	N	0.004956	T	0.32585	0.0834	L	0.53249	1.67	0.45567	D	0.998515	P;B	0.50528	0.936;0.232	P;B	0.53809	0.735;0.111	T	0.01940	-1.1243	10	0.72032	D	0.01	-7.5205	18.793	0.91982	0.0:1.0:0.0:0.0	.	308;413	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	F	166;413	ENSP00000354481:S413F	ENSP00000354481:S413F	S	+	2	0	FAM5B	175516173	0.997000	0.39634	0.982000	0.44146	0.687000	0.40016	5.907000	0.69908	2.533000	0.85409	0.313000	0.20887	TCC		PASS	0.527	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165		16	102	16	102	---	---	---	---
SEC16B	89866	broad.mit.edu	37	1	177902668	177902668	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:177902668C>A	ENST00000308284.6	-	21	2764	c.2675G>T	c.(2674-2676)cGa>cTa	p.R892L	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	892					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.R893L(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGCAGTATTTCGGGGAGAGTT	0.532																																						uc001gli.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)	4						c.(2674-2676)CGA>CTA		leucine zipper transcription regulator 2							79.0	81.0	80.0					1																	177902668		1896	4128	6024	SO:0001583	missense	89866				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr1:177902668C>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.2675G>T	1.37:g.177902668C>A	ENSP00000308339:p.Arg892Leu					SEC16B_uc001glk.1_Missense_Mutation_p.R569L|SEC16B_uc009wwy.1_Missense_Mutation_p.R447L|SEC16B_uc001glh.1_Missense_Mutation_p.R551L|SEC16B_uc009wwz.1_Missense_Mutation_p.R551L|SEC16B_uc001glj.1_Missense_Mutation_p.R893L	p.R892L	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN			21	2765	-			892					A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	c.2675G>T	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	C	9.013	0.983094	0.18889	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.14022	2.54	5.54	-11.1	0.00147	.	1.754910	0.02450	N	0.085512	T	0.07728	0.0194	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.23937	0.094;0.016;0.057;0.094	B;B;B;B	0.17433	0.018;0.011;0.018;0.018	T	0.16778	-1.0391	10	0.46703	T	0.11	8.4379	12.1738	0.54173	0.0:0.2568:0.5762:0.167	.	447;893;892;589	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	L	892;576;607	ENSP00000308339:R892L	ENSP00000239472:R607L	R	-	2	0	AL359075.1	176169291	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.039000	0.01418	-3.094000	0.00246	-1.108000	0.02087	CGA		PASS	0.532	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127		10	37	10	37	---	---	---	---
CEP350	9857	broad.mit.edu	37	1	180017694	180017694	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:180017694A>G	ENST00000367607.3	+	22	5064	c.4646A>G	c.(4645-4647)cAa>cGa	p.Q1549R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1549	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q1549R(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						AGCAGCCGCCAAGAAAGTCCT	0.358																																						uc001gnt.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)	4						c.(4645-4647)CAA>CGA		centrosome-associated protein 350							97.0	99.0	98.0					1																	180017694		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:180017694A>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.4646A>G	1.37:g.180017694A>G	ENSP00000356579:p.Gln1549Arg					CEP350_uc009wxl.2_Missense_Mutation_p.Q1548R	p.Q1549R	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			22	5029	+			1549			Ser-rich.		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.4646A>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.724089	0.68959	.	.	ENSG00000135837	ENST00000367607	T	0.59772	0.24	5.55	5.55	0.83447	.	0.166883	0.28322	N	0.015777	T	0.47746	0.1462	L	0.34521	1.04	0.43457	D	0.995651	B;B	0.30021	0.22;0.265	B;B	0.32864	0.079;0.154	T	0.41215	-0.9521	9	.	.	.	.	13.9208	0.63930	1.0:0.0:0.0:0.0	.	1549;1549	E7EU22;Q5VT06	.;CE350_HUMAN	R	1549	ENSP00000356579:Q1549R	.	Q	+	2	0	CEP350	178284317	1.000000	0.71417	0.989000	0.46669	0.915000	0.54546	5.467000	0.66737	2.110000	0.64415	0.460000	0.39030	CAA		PASS	0.358	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		23	85	23	85	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186056380	186056380	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:186056380G>T	ENST00000271588.4	+	59	9307	c.9078G>T	c.(9076-9078)aaG>aaT	p.K3026N	HMCN1_ENST00000367492.2_Missense_Mutation_p.K3026N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3026	Ig-like C2-type 28.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.K3026N(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTCGGGCCAAGGTATCAGATG	0.383																																						uc001grq.1																			1	Substitution - Missense(1)		lung(1)	ovary(22)|skin(1)	23						c.(9076-9078)AAG>AAT		hemicentin 1 precursor							148.0	141.0	143.0					1																	186056380		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186056380G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9078G>T	1.37:g.186056380G>T	ENSP00000271588:p.Lys3026Asn						p.K3026N	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			59	9307	+			3026			Ig-like C2-type 28.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.9078G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.594217	0.66219	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68025	-0.3;-0.3	5.63	2.77	0.32553	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.083106	0.85682	D	0.000000	T	0.68943	0.3056	L	0.39245	1.2	0.40007	D	0.975235	D	0.76494	0.999	D	0.85130	0.997	T	0.64952	-0.6286	10	0.31617	T	0.26	.	6.1039	0.20063	0.2923:0.0:0.5698:0.1379	.	3026	Q96RW7	HMCN1_HUMAN	N	3026	ENSP00000271588:K3026N;ENSP00000356462:K3026N	ENSP00000271588:K3026N	K	+	3	2	HMCN1	184323003	1.000000	0.71417	0.999000	0.59377	0.936000	0.57629	1.103000	0.31062	0.687000	0.31509	0.655000	0.94253	AAG		PASS	0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		4	75	4	75	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186064593	186064593	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:186064593A>G	ENST00000271588.4	+	68	10742	c.10513A>G	c.(10513-10515)Acc>Gcc	p.T3505A	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3505A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3505	Ig-like C2-type 33.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.T3505A(1)|p.T3505S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGGAAAGTACACCTGCATTGC	0.473																																						uc001grq.1																			2	Substitution - Missense(2)		lung(1)|liver(1)	ovary(22)|skin(1)	23						c.(10513-10515)ACC>GCC		hemicentin 1 precursor							102.0	92.0	95.0					1																	186064593		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186064593A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10513A>G	1.37:g.186064593A>G	ENSP00000271588:p.Thr3505Ala						p.T3505A	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			68	10742	+			3505			Ig-like C2-type 33.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10513A>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	13.84	2.356568	0.41700	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80033	-1.33;-1.33	5.17	4.02	0.46733	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.257077	0.44902	D	0.000410	T	0.77130	0.4085	L	0.56769	1.78	0.44976	D	0.997994	B	0.21071	0.051	B	0.30316	0.114	T	0.69213	-0.5204	10	0.26408	T	0.33	.	11.4764	0.50300	0.8653:0.0:0.0:0.1347	.	3505	Q96RW7	HMCN1_HUMAN	A	3505	ENSP00000271588:T3505A;ENSP00000356462:T3505A	ENSP00000271588:T3505A	T	+	1	0	HMCN1	184331216	1.000000	0.71417	0.856000	0.33681	0.461000	0.32589	5.939000	0.70179	0.758000	0.33059	0.454000	0.30748	ACC		PASS	0.473	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		15	63	15	63	---	---	---	---
TPR	7175	broad.mit.edu	37	1	186300668	186300668	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:186300668G>C	ENST00000367478.4	-	39	5946	c.5650C>G	c.(5650-5652)Cag>Gag	p.Q1884E		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1884					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.Q1884E(1)|p.Q1885E(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)		TTGTATACCTGAGTCTCTACC	0.363			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.(5650-5652)CAG>GAG		nuclear pore complex-associated protein TPR							184.0	172.0	176.0					1																	186300668		1854	4101	5955	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.chr1:186300668G>C	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.5650C>G	1.37:g.186300668G>C	ENSP00000356448:p.Gln1884Glu						p.Q1884E	NM_003292	NP_003283	P12270	TPR_HUMAN		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)	39	5947	-		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)	1884					Q15655|Q5SWY0|Q99968	Missense_Mutation	SNP	ENST00000367478.4	37	c.5650C>G	CCDS41446.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.374869	0.24857	.	.	ENSG00000047410	ENST00000367478	T	0.20738	2.05	5.12	5.12	0.69794	.	0.405233	0.28082	N	0.016665	T	0.16428	0.0395	L	0.40543	1.245	0.21740	N	0.999567	B	0.22851	0.076	B	0.12837	0.008	T	0.29274	-1.0017	10	0.05351	T	0.99	.	16.7485	0.85479	0.0:0.0:1.0:0.0	.	1884	P12270	TPR_HUMAN	E	1884	ENSP00000356448:Q1884E	ENSP00000356448:Q1884E	Q	-	1	0	TPR	184567291	1.000000	0.71417	0.974000	0.42286	0.405000	0.30901	4.250000	0.58772	2.388000	0.81334	0.655000	0.94253	CAG		PASS	0.363	TPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086353.2	NM_003292		21	85	21	85	---	---	---	---
CFHR2	3080	broad.mit.edu	37	1	196918772	196918772	+	Missense_Mutation	SNP	G	G	T	rs528276977		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:196918772G>T	ENST00000367415.5	+	2	346	c.246G>T	c.(244-246)aaG>aaT	p.K82N	CFHR2_ENST00000496448.1_Intron|CFHR2_ENST00000476712.2_Missense_Mutation_p.K82N|CFHR2_ENST00000367421.3_Missense_Mutation_p.K82N	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	82	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					extracellular region (GO:0005576)		p.K82N(1)		large_intestine(2)|ovary(1)|skin(3)	6						CAACACCAAAGTGTCTCAGTG	0.388																																						uc001gtq.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(244-246)AAG>AAT		H factor (complement)-like 3 precursor							96.0	80.0	86.0					1																	196918772		2203	4300	6503	SO:0001583	missense	3080					extracellular region		g.chr1:196918772G>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	ENST00000367415.5:c.246G>T	1.37:g.196918772G>T	ENSP00000356385:p.Lys82Asn					CFHR2_uc001gtr.1_Intron	p.K82N	NM_005666	NP_005657	P36980	FHR2_HUMAN			2	323	+			82			Sushi 1.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367415.5	37	c.246G>T	CCDS30959.1	.	.	.	.	.	.	.	.	.	.	.	12.31	1.898825	0.33535	.	.	ENSG00000080910	ENST00000367421;ENST00000367415	T;T	0.65549	-0.16;-0.16	3.33	1.08	0.20341	Complement control module (2);Sushi/SCR/CCP (2);	0.227169	0.22460	N	0.059774	T	0.67674	0.2918	L	0.61387	1.9	0.09310	N	1	D	0.76494	0.999	D	0.77004	0.989	T	0.55341	-0.8156	10	0.20046	T	0.44	.	5.1888	0.15199	0.0:0.2332:0.5279:0.2389	.	82	P36980	FHR2_HUMAN	N	82	ENSP00000356391:K82N;ENSP00000356385:K82N	ENSP00000356385:K82N	K	+	3	2	CFHR2	195185395	0.003000	0.15002	0.042000	0.18584	0.002000	0.02628	-0.644000	0.05415	0.655000	0.30866	0.508000	0.49915	AAG		PASS	0.388	CFHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088815.2	NM_005666		16	48	16	48	---	---	---	---
ZBTB41	360023	broad.mit.edu	37	1	197168544	197168544	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:197168544G>C	ENST00000367405.4	-	1	1128	c.1060C>G	c.(1060-1062)Cag>Gag	p.Q354E	ZBTB41_ENST00000467322.1_5'UTR|CRB1_ENST00000535699.1_5'Flank	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	354					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.Q354E(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TTGCTGTTCTGAATGACCACT	0.363																																						uc001gtx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1060-1062)CAG>GAG		zinc finger and BTB domain containing 41							108.0	104.0	105.0					1																	197168544		2203	4300	6503	SO:0001583	missense	360023				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:197168544G>C		CCDS30960.1	1q31.3	2013-01-08			ENSG00000177888	ENSG00000177888		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24819	protein-coding gene	gene with protein product							Standard	NM_194314		Approved	FRBZ1, FLJ36199, DKFZp686C06120, ZNF924	uc001gtx.1	Q5SVQ8	OTTHUMG00000036275	ENST00000367405.4:c.1060C>G	1.37:g.197168544G>C	ENSP00000356375:p.Gln354Glu					ZBTB41_uc009wyz.1_RNA|CRB1_uc010poz.1_5'Flank	p.Q354E	NM_194314	NP_919290	Q5SVQ8	ZBT41_HUMAN			1	1129	-			354					A2RUA8|Q6MZT8|Q6ZR25|Q7Z4T1|Q8IZ99	Missense_Mutation	SNP	ENST00000367405.4	37	c.1060C>G	CCDS30960.1	.	.	.	.	.	.	.	.	.	.	G	14.28	2.487320	0.44249	.	.	ENSG00000177888	ENST00000367405	T	0.05081	3.5	4.51	4.51	0.55191	.	0.000000	0.38381	U	0.001716	T	0.06280	0.0162	N	0.19112	0.55	0.45477	D	0.998446	B	0.13594	0.008	B	0.16722	0.016	T	0.35076	-0.9803	10	0.51188	T	0.08	.	17.2952	0.87169	0.0:0.0:1.0:0.0	.	354	Q5SVQ8	ZBT41_HUMAN	E	354	ENSP00000356375:Q354E	ENSP00000356375:Q354E	Q	-	1	0	ZBTB41	195435167	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.467000	0.97671	2.058000	0.61347	0.298000	0.19748	CAG		PASS	0.363	ZBTB41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088249.2	NM_194314		13	76	13	76	---	---	---	---
LMOD1	25802	broad.mit.edu	37	1	201868376	201868376	+	Nonsense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:201868376G>A	ENST00000367288.4	-	2	2011	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*	RP11-307B6.3_ENST00000414927.1_RNA|RP11-307B6.3_ENST00000458139.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	589	WH2. {ECO:0000255|PROSITE- ProRule:PRU00406}.				muscle contraction (GO:0006936)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)		p.Q589*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTCTTGAGCTGCTTGAGGTTG	0.582																																						uc001gxb.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(1765-1767)CAG>TAG		leiomodin 1 (smooth muscle)							27.0	30.0	29.0					1																	201868376		1985	4150	6135	SO:0001587	stop_gained	25802				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding	g.chr1:201868376G>A	X54162	CCDS53457.1	1q32.1	2008-05-22			ENSG00000163431	ENSG00000163431			6647	protein-coding gene	gene with protein product		602715					Standard	NM_012134		Approved	64kD, D1, 1D	uc021phl.1	P29536	OTTHUMG00000035802	ENST00000367288.4:c.1765C>T	1.37:g.201868376G>A	ENSP00000356257:p.Gln589*					LMOD1_uc010ppu.1_Nonsense_Mutation_p.Q538*	p.Q589*	NM_012134	NP_036266	P29536	LMOD1_HUMAN			2	2013	-			589			WH2.		B1APV6|C4AMB1|Q68EN2	Nonsense_Mutation	SNP	ENST00000367288.4	37	c.1765C>T	CCDS53457.1	.	.	.	.	.	.	.	.	.	.	G	39	7.287810	0.98189	.	.	ENSG00000163431	ENST00000367288;ENST00000400965;ENST00000412469	.	.	.	4.64	4.64	0.57946	.	0.000000	0.38005	N	0.001850	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-42.8566	15.0035	0.71492	0.0:0.0:1.0:0.0	.	.	.	.	X	589;589;538	.	ENSP00000356257:Q589X	Q	-	1	0	LMOD1	200134999	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.289000	0.59013	2.095000	0.63458	0.655000	0.94253	CAG		PASS	0.582	LMOD1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087085.2			5	19	5	19	---	---	---	---
MYBPH	4608	broad.mit.edu	37	1	203143593	203143593	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:203143593A>G	ENST00000255416.4	-	3	530	c.473T>C	c.(472-474)aTg>aCg	p.M158T		NM_004997.2	NP_004988.2	Q13203	MYBPH_HUMAN	myosin binding protein H	158	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|regulation of striated muscle contraction (GO:0006942)	myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.M158T(1)		endometrium(5)|large_intestine(6)|lung(7)|skin(1)|urinary_tract(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)		CTGGTCCAGCATGGCCGGCGG	0.582																																					NSCLC(32;174 1025 14462 23899 42933)	uc001gzh.1																			1	Substitution - Missense(1)		lung(1)		0						c.(472-474)ATG>ACG		myosin binding protein H							52.0	61.0	58.0					1																	203143593		2203	4300	6503	SO:0001583	missense	4608				cell adhesion|regulation of striated muscle contraction	myosin filament	structural constituent of muscle	g.chr1:203143593A>G	BC044226	CCDS30975.1	1q32.1	2013-02-11	2001-11-28		ENSG00000133055	ENSG00000133055		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7552	protein-coding gene	gene with protein product		160795	"""myosin-binding protein H"""			8486381	Standard	NM_004997		Approved		uc001gzh.1	Q13203	OTTHUMG00000042121	ENST00000255416.4:c.473T>C	1.37:g.203143593A>G	ENSP00000255416:p.Met158Thr					FMOD_uc010pqi.1_Intron	p.M158T	NM_004997	NP_004988	Q13203	MYBPH_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.153)	Colorectal(1306;0.0306)	3	532	-			158			Fibronectin type-III 1.		Q16886|Q86YC5	Missense_Mutation	SNP	ENST00000255416.4	37	c.473T>C	CCDS30975.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.408383	0.00193	.	.	ENSG00000133055	ENST00000255416	T	0.46819	0.86	5.67	-0.542	0.11854	Fibronectin, type III (2);Immunoglobulin-like fold (1);	1.571050	0.03734	N	0.253927	T	0.16557	0.0398	N	0.00605	-1.335	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29941	-0.9995	10	0.06494	T	0.89	.	9.3684	0.38239	0.603:0.0:0.397:0.0	.	158	Q13203	MYBPH_HUMAN	T	158	ENSP00000255416:M158T	ENSP00000255416:M158T	M	-	2	0	MYBPH	201410216	0.000000	0.05858	0.032000	0.17829	0.040000	0.13550	0.430000	0.21428	-0.112000	0.11979	-0.290000	0.09829	ATG		PASS	0.582	MYBPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100264.1	NM_004997		11	53	11	53	---	---	---	---
KCNH1	3756	broad.mit.edu	37	1	211093085	211093085	+	Silent	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:211093085C>A	ENST00000271751.4	-	7	1386	c.1359G>T	c.(1357-1359)tcG>tcT	p.S453S	KCNH1_ENST00000367007.4_Silent_p.S426S			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	453					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)	p.S453S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGAAATACAACGAGGAGATGT	0.502																																						uc001hib.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1357-1359)TCG>TCT		potassium voltage-gated channel, subfamily H,							170.0	162.0	164.0					1																	211093085		2203	4300	6503	SO:0001819	synonymous_variant	3756				myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity	g.chr1:211093085C>A	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.1359G>T	1.37:g.211093085C>A						KCNH1_uc001hic.2_Silent_p.S426S	p.S453S	NM_172362	NP_758872	O95259	KCNH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)	7	1529	-			453					B1AQ26|O76035|Q14CL3	Silent	SNP	ENST00000271751.4	37	c.1359G>T	CCDS1496.1																																																																																				PASS	0.502	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238		24	96	24	96	---	---	---	---
RPS6KC1	26750	broad.mit.edu	37	1	213415138	213415138	+	Silent	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:213415138C>A	ENST00000366960.3	+	11	2469	c.2319C>A	c.(2317-2319)ccC>ccA	p.P773P	RPS6KC1_ENST00000366959.3_Silent_p.P761P|RPS6KC1_ENST00000543354.1_Silent_p.P476P|RPS6KC1_ENST00000543470.1_Silent_p.P561P|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	773					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)	p.P773P(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AGGAGGATCCCAGGATGTTAT	0.443																																						uc010ptr.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(3)|breast(1)	8						c.(2317-2319)CCC>CCA		ribosomal protein S6 kinase, 52kDa, polypeptide							132.0	127.0	128.0					1																	213415138		2203	4300	6503	SO:0001819	synonymous_variant	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213415138C>A	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.2319C>A	1.37:g.213415138C>A						RPS6KC1_uc001hkd.2_Silent_p.P761P|RPS6KC1_uc010pts.1_Silent_p.P561P|RPS6KC1_uc010ptt.1_Silent_p.P561P|RPS6KC1_uc010ptu.1_Silent_p.P592P|RPS6KC1_uc010ptv.1_Silent_p.P308P|RPS6KC1_uc001hke.2_Silent_p.P592P	p.P773P	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	2478	+			773					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	ENST00000366960.3	37	c.2319C>A	CCDS1513.1																																																																																				PASS	0.443	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		25	106	25	106	---	---	---	---
TMEM63A	9725	broad.mit.edu	37	1	226054858	226054858	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:226054858C>T	ENST00000366835.3	-	8	790	c.520G>A	c.(520-522)Gac>Aac	p.D174N	TMEM63A_ENST00000474478.1_5'Flank|TMEM63A_ENST00000537914.1_5'Flank	NM_014698.2	NP_055513.2	O94886	CSCL1_HUMAN	transmembrane protein 63A	174					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleotide binding (GO:0000166)	p.D174N(1)		breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CTATACGGGTCTTTGTCTGCA	0.527																																						uc001hpm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(520-522)GAC>AAC		transmembrane protein 63A							218.0	195.0	203.0					1																	226054858		2203	4300	6503	SO:0001583	missense	9725					integral to membrane|lysosomal membrane	nucleotide binding	g.chr1:226054858C>T		CCDS31042.1	1q42.12	2008-02-05	2005-07-25	2005-07-25	ENSG00000196187	ENSG00000196187			29118	protein-coding gene	gene with protein product			"""KIAA0792"""	KIAA0792		9872452, 9455484	Standard	NM_014698		Approved		uc001hpm.2	O94886	OTTHUMG00000037442	ENST00000366835.3:c.520G>A	1.37:g.226054858C>T	ENSP00000355800:p.Asp174Asn					TMEM63A_uc010pvi.1_Missense_Mutation_p.D174N	p.D174N	NM_014698	NP_055513	O94886	TM63A_HUMAN			8	770	-	Breast(184;0.197)		174					Q53GI7|Q5TE96|Q8N2U2	Missense_Mutation	SNP	ENST00000366835.3	37	c.520G>A	CCDS31042.1	.	.	.	.	.	.	.	.	.	.	C	3.580	-0.085830	0.07097	.	.	ENSG00000196187	ENST00000366835	T	0.42900	0.96	5.44	5.44	0.79542	.	0.127761	0.64402	D	0.000001	T	0.37019	0.0988	L	0.44542	1.39	0.80722	D	1	B;B	0.14805	0.011;0.004	B;B	0.20955	0.032;0.032	T	0.16541	-1.0399	10	0.11182	T	0.66	-37.8348	18.1833	0.89785	0.0:1.0:0.0:0.0	.	174;174	B3KMR6;O94886	.;TM63A_HUMAN	N	174	ENSP00000355800:D174N	ENSP00000355800:D174N	D	-	1	0	TMEM63A	224121481	0.251000	0.23961	0.849000	0.33467	0.089000	0.18198	0.637000	0.24659	2.814000	0.96858	0.655000	0.94253	GAC		PASS	0.527	TMEM63A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091154.2	NM_014698		34	213	34	213	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228529140	228529140	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:228529140G>A	ENST00000422127.1	+	74	17903	c.17859G>A	c.(17857-17859)ctG>ctA	p.L5953L	OBSCN_ENST00000570156.2_Silent_p.L6910L|OBSCN_ENST00000366707.4_Silent_p.L3587L|OBSCN_ENST00000284548.11_Silent_p.L5953L|OBSCN_ENST00000366709.4_Silent_p.L3072L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5953	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.L6535L(1)|p.L5953L(1)|p.L6665L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACCCACAGCTGAGCAGCATCG	0.652																																						uc009xez.1																			3	Substitution - coding silent(3)		lung(3)	stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(17857-17859)CTG>CTA		obscurin, cytoskeletal calmodulin and							28.0	33.0	31.0					1																	228529140		2103	4212	6315	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228529140G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17859G>A	1.37:g.228529140G>A						OBSCN_uc001hsn.2_Silent_p.L5953L|OBSCN_uc001hsr.1_Silent_p.L582L	p.L5953L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			74	17903	+		Prostate(94;0.0405)	5953			PH.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.17859G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	0.109	-1.140819	0.01728	.	.	ENSG00000154358	ENST00000441106	.	.	.	5.71	-1.36	0.09085	.	.	.	.	.	T	0.51312	0.1667	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44452	-0.9327	4	.	.	.	.	6.7585	0.23528	0.2499:0.3173:0.4328:0.0	.	.	.	.	K	570	.	.	E	+	1	0	OBSCN	226595763	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	1.335000	0.33839	0.046000	0.15833	0.655000	0.94253	GAG		PASS	0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		4	17	4	17	---	---	---	---
ACTA1	58	broad.mit.edu	37	1	229568328	229568328	+	Silent	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:229568328G>C	ENST00000366684.3	-	3	531	c.429C>G	c.(427-429)tcC>tcG	p.S143S	ACTA1_ENST00000366683.2_Intron	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	143					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)	p.S143S(1)		endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				AGGCGTAGAGGGACAGCACGG	0.701																																						uc001htm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)TCC>TCG		actin, alpha 1, skeletal muscle	Dornase Alfa(DB00003)						48.0	49.0	49.0					1																	229568328		2203	4300	6503	SO:0001819	synonymous_variant	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229568328G>C	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.429C>G	1.37:g.229568328G>C							p.S143S	NM_001100	NP_001091	P68133	ACTS_HUMAN			3	534	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	143					P02568|P99020|Q5T8M9	Silent	SNP	ENST00000366684.3	37	c.429C>G	CCDS1578.1																																																																																				PASS	0.701	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		16	57	16	57	---	---	---	---
ABCB10	23456	broad.mit.edu	37	1	229675264	229675264	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:229675264C>A	ENST00000344517.4	-	6	1320	c.1278G>T	c.(1276-1278)atG>atT	p.M426I		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	426	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)	p.M426I(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCCACGGTCATGTGGGCAC	0.453																																						uc001htp.3																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(1276-1278)ATG>ATT		ATP-binding cassette, sub-family B, member 10							101.0	98.0	99.0					1																	229675264		2203	4300	6503	SO:0001583	missense	23456					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity	g.chr1:229675264C>A	U18237	CCDS1580.1	1q32	2012-03-14			ENSG00000135776	ENSG00000135776		"""ATP binding cassette transporters / subfamily B"""	41	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family B member 10, mitochondrial"", ""ATP-binding cassette transporter 10"", ""ABC transporter 10 protein"", ""mitochondrial ATP-binding cassette 2"""	605454				7766993	Standard	NM_012089		Approved	EST20237, M-ABC2, MTABC2	uc001htp.4	Q9NRK6	OTTHUMG00000039471	ENST00000344517.4:c.1278G>T	1.37:g.229675264C>A	ENSP00000355637:p.Met426Ile						p.M426I	NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN			6	1321	-	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)	426			Mitochondrial intermembrane (Potential).|Helical; (Potential).|ABC transmembrane type-1.		Q13040|Q6P1Q8|Q9H3V0	Missense_Mutation	SNP	ENST00000344517.4	37	c.1278G>T	CCDS1580.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416573	0.25552	.	.	ENSG00000135776	ENST00000344517	T	0.78707	-1.2	5.15	5.15	0.70609	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.037016	0.85682	D	0.000000	T	0.63331	0.2502	N	0.05330	-0.07	0.54753	D	0.999987	B	0.24186	0.099	B	0.33254	0.16	T	0.59257	-0.7488	10	0.08599	T	0.76	-39.6993	18.9948	0.92809	0.0:1.0:0.0:0.0	.	426	Q9NRK6	ABCBA_HUMAN	I	426	ENSP00000355637:M426I	ENSP00000355637:M426I	M	-	3	0	ABCB10	227741887	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.671000	0.68095	2.562000	0.86427	0.655000	0.94253	ATG		PASS	0.453	ABCB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095240.1	NM_012089		33	100	33	100	---	---	---	---
ZP4	57829	broad.mit.edu	37	1	238053419	238053419	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:238053419C>G	ENST00000366570.4	-	2	391	c.233G>C	c.(232-234)aGa>aCa	p.R78T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	78					acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.R78T(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGGACCTTTTCTTATCCAGGT	0.557																																					NSCLC(166;160 2029 11600 18754 19936)	uc001hym.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(232-234)AGA>ACA		zona pellucida glycoprotein 4 preproprotein							103.0	90.0	94.0					1																	238053419		2203	4300	6503	SO:0001583	missense	57829				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	g.chr1:238053419C>G	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.233G>C	1.37:g.238053419C>G	ENSP00000355529:p.Arg78Thr					LOC100130331_uc010pyc.1_Intron	p.R78T	NM_021186	NP_067009	Q12836	ZP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		2	233	-	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	78			Extracellular (Potential).		B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	37	c.233G>C	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	5.323	0.244911	0.10077	.	.	ENSG00000116996	ENST00000366570	T	0.72942	-0.7	4.9	-4.61	0.03380	.	1.986640	0.02441	N	0.084551	T	0.59046	0.2165	L	0.50919	1.6	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.28396	-1.0045	10	0.22706	T	0.39	0.4783	4.688	0.12767	0.2397:0.1888:0.4842:0.0874	.	78	Q12836	ZP4_HUMAN	T	78	ENSP00000355529:R78T	ENSP00000355529:R78T	R	-	2	0	ZP4	236120042	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.394000	0.02518	-0.481000	0.06792	0.655000	0.94253	AGA		PASS	0.557	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1			34	95	34	95	---	---	---	---
FMN2	56776	broad.mit.edu	37	1	240341368	240341369	+	Splice_Site	DNP	GG	GG	TT			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:240341368_240341369GG>TT	ENST00000319653.9	+	3	2160	c.1930_1930GG>TT	c.(1930-1932)GGga>TTgga	p.G644L	RP11-567G24.3_ENST00000412311.1_RNA|RP11-567G24.3_ENST00000444308.1_RNA	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	644				E -> EDDGE (in Ref. 3; BAD92390). {ECO:0000305}.	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.?(2)|p.E787*(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)			TGCTGAAACAGGTAACCCTTTC	0.416																																						uc010pyd.1																			3	Unknown(2)|Substitution - Nonsense(1)		lung(3)	ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1)	12						c.(1930-1932)GAA>TAA|c.e3+1		formin 2																																				SO:0001630	splice_region_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.chr1:240341368G>T|g.chr1:240341369G>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	Exception_encountered	1.37:g.240341368_240341369delinsTT						FMN2_uc010pye.1_Nonsense_Mutation_p.E644*|FMN2_uc010pye.1_Splice_Site_p.E644_splice	p.E644*|p.E644_splice	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)		3	2155	+	Ovarian(103;0.127)	all_cancers(173;0.013)	644|	E -> EDDGE (in Ref. 2; BAD92390).|				B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Nonsense_Mutation|Splice_Site	SNP	ENST00000319653.9	37	c.1930G>T|c.1930_splice	CCDS31069.2																																																																																				PASS	0.416	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	Missense_Mutation	10	49|48	10	48	---	---	---	---
OR2AK2	391191	broad.mit.edu	37	1	248129375	248129375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:248129375G>T	ENST00000366480.3	+	1	841	c.742G>T	c.(742-744)Gga>Tga	p.G248*	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	248						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G248*(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CTCAGGAAAAGGACAGGCAAA	0.483																																					Melanoma(45;390 1181 23848 28461 41504)	uc010pzd.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|breast(1)	2						c.(742-744)GGA>TGA		olfactory receptor, family 2, subfamily AK,							168.0	137.0	148.0					1																	248129375		2203	4300	6503	SO:0001587	stop_gained	391191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248129375G>T	BK004457	CCDS31102.1	1q44	2012-08-09			ENSG00000187080	ENSG00000187080		"""GPCR / Class A : Olfactory receptors"""	19569	protein-coding gene	gene with protein product				OR2AK1P			Standard	NM_001004491		Approved		uc010pzd.2	Q8NG84	OTTHUMG00000040201	ENST00000366480.3:c.742G>T	1.37:g.248129375G>T	ENSP00000355436:p.Gly248*					OR2L13_uc001ids.2_Intron	p.G248*	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	742	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		248			Cytoplasmic (Potential).		B2RND1|Q6IF05	Nonsense_Mutation	SNP	ENST00000366480.3	37	c.742G>T	CCDS31102.1	.	.	.	.	.	.	.	.	.	.	.	19.27	3.794728	0.70452	.	.	ENSG00000187080	ENST00000366480	.	.	.	3.04	2.09	0.27110	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.0429	0.47842	0.0:0.0:0.8118:0.1882	.	.	.	.	X	248	.	ENSP00000355436:G248X	G	+	1	0	OR2AK2	246195998	0.000000	0.05858	0.001000	0.08648	0.098000	0.18820	0.107000	0.15375	0.572000	0.29383	-0.521000	0.04368	GGA		PASS	0.483	OR2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096858.2	NM_001004491		12	61	12	61	---	---	---	---
OR2T1	26696	broad.mit.edu	37	1	248569835	248569835	+	Silent	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr1:248569835G>T	ENST00000366474.1	+	1	540	c.540G>T	c.(538-540)ctG>ctT	p.L180L		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	180						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L180L(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	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)			GCAACCCTCTGAGATACCCTG	0.547																																						uc010pzm.1																			1	Substitution - coding silent(1)	p.L180R(1)	lung(1)	pancreas(1)	1						c.(538-540)CTG>CTT		olfactory receptor, family 2, subfamily T,							120.0	118.0	118.0					1																	248569835		2203	4300	6503	SO:0001819	synonymous_variant	26696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248569835G>T	U86215	CCDS31115.1	1q44	2012-08-09			ENSG00000175143	ENSG00000175143		"""GPCR / Class A : Olfactory receptors"""	8277	protein-coding gene	gene with protein product						9500546	Standard	NM_030904		Approved	OR1-25	uc010pzm.2	O43869	OTTHUMG00000040450	ENST00000366474.1:c.540G>T	1.37:g.248569835G>T							p.L180L	NM_030904	NP_112166	O43869	OR2T1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	540	+	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)		180			Cytoplasmic (Potential).		Q6IEZ9	Silent	SNP	ENST00000366474.1	37	c.540G>T	CCDS31115.1																																																																																				PASS	0.547	OR2T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097346.2			35	118	35	118	---	---	---	---
PXDN	7837	broad.mit.edu	37	2	1684049	1684049	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:1684049C>A	ENST00000252804.4	-	7	696	c.646G>T	c.(646-648)Gcg>Tcg	p.A216S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	216	LRRCT.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.A216S(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GCTGCCTGCGCGTTCCCCGAC	0.582																																						uc002qxa.2																			1	Substitution - Missense(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(646-648)GCG>TCG		peroxidasin precursor							75.0	78.0	77.0					2																	1684049		2188	4287	6475	SO:0001583	missense	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1684049C>A	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.646G>T	2.37:g.1684049C>A	ENSP00000252804:p.Ala216Ser					PXDN_uc002qxb.1_Missense_Mutation_p.A216S|PXDN_uc002qxc.1_Missense_Mutation_p.A33S	p.A216S	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	7	710	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	216			LRRCT.		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	c.646G>T	CCDS46221.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	9.563|9.563	1.118900|1.118900	0.20877|0.20877	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000252804;ENST00000425171|ENST00000447941	T;D|.	0.89875|.	0.74;-2.58|.	4.64|4.64	1.84|1.84	0.25277|0.25277	Cysteine-rich flanking region, C-terminal (1);|.	0.223034|.	0.36932|.	N|.	0.002337|.	T|T	0.40886|0.40886	0.1135|0.1135	L|L	0.36672|0.36672	1.1|1.1	0.32238|0.32238	N|N	0.57306|0.57306	P;B|.	0.38992|.	0.653;0.194|.	B;B|.	0.40477|.	0.33;0.056|.	T|T	0.46871|0.46871	-0.9160|-0.9160	10|5	0.54805|.	T|.	0.06|.	-19.2827|-19.2827	9.3795|9.3795	0.38304|0.38304	0.0:0.7651:0.0:0.2349|0.0:0.7651:0.0:0.2349	.|.	216;216|.	Q92626-2;Q92626|.	.;PXDN_HUMAN|.	S|L	216;192|139	ENSP00000252804:A216S;ENSP00000398363:A192S|.	ENSP00000252804:A216S|.	A|R	-|-	1|2	0|0	PXDN|PXDN	1663056|1663056	0.989000|0.989000	0.36119|0.36119	0.001000|0.001000	0.08648|0.08648	0.036000|0.036000	0.12997|0.12997	3.279000|3.279000	0.51670|0.51670	0.079000|0.079000	0.16929|0.16929	0.444000|0.444000	0.29173|0.29173	GCG|CGC		PASS	0.582	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		6	37	6	37	---	---	---	---
DNAJC27	51277	broad.mit.edu	37	2	25180784	25180784	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:25180784C>G	ENST00000264711.2	-	4	489	c.300G>C	c.(298-300)caG>caC	p.Q100H	DNAJC27_ENST00000534855.1_Missense_Mutation_p.Q29H|DNAJC27_ENST00000468467.1_5'UTR	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	100					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.Q100H(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						AGGAGTCTTTCTGCCCAACAT	0.413																																						uc002rft.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(298-300)CAG>CAC		DnaJ (Hsp40) homolog, subfamily C, member 27							103.0	93.0	96.0					2																	25180784		2203	4300	6503	SO:0001583	missense	51277				protein folding|small GTPase mediated signal transduction		GTP binding|heat shock protein binding|unfolded protein binding	g.chr2:25180784C>G		CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.300G>C	2.37:g.25180784C>G	ENSP00000264711:p.Gln100His					DNAJC27_uc010ykn.1_Missense_Mutation_p.Q29H|DNAJC27_uc002rfu.1_RNA|DNAJC27_uc010eyg.1_Missense_Mutation_p.Q100H	p.Q100H	NM_016544	NP_057628	Q9NZQ0	DJC27_HUMAN			4	351	-			100					Q5JV88|Q86Y24	Missense_Mutation	SNP	ENST00000264711.2	37	c.300G>C	CCDS1716.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.150951	0.38021	.	.	ENSG00000115137	ENST00000264711;ENST00000534855	T;T	0.77358	-1.09;-0.83	5.27	3.44	0.39384	Small GTP-binding protein domain (1);	0.222392	0.47455	D	0.000229	T	0.66005	0.2746	L	0.35593	1.075	0.42488	D	0.992885	B;B	0.02656	0.0;0.0	B;B	0.12837	0.001;0.008	T	0.64495	-0.6394	10	0.52906	T	0.07	-21.0489	9.5779	0.39470	0.0:0.7745:0.0:0.2255	.	100;100	Q9NZQ0-3;Q9NZQ0	.;DJC27_HUMAN	H	100;29	ENSP00000264711:Q100H;ENSP00000440086:Q29H	ENSP00000264711:Q100H	Q	-	3	2	DNAJC27	25034288	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	0.339000	0.19875	1.463000	0.47967	0.563000	0.77884	CAG		PASS	0.413	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246855.3	NM_016544		13	67	13	67	---	---	---	---
CAD	790	broad.mit.edu	37	2	27445786	27445786	+	Silent	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:27445786C>T	ENST00000403525.1	+	6	834	c.690C>T	c.(688-690)ccC>ccT	p.P230P	CAD_ENST00000264705.4_Silent_p.P230P			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.P230P(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCTATCCCAGTGTCGTAT	0.498																																						uc002rji.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1)	10						c.(688-690)CCC>CCT		carbamoylphosphate synthetase 2/aspartate	L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)						114.0	105.0	108.0					2																	27445786		2203	4300	6503	SO:0001819	synonymous_variant	790				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	g.chr2:27445786C>T	D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.690C>T	2.37:g.27445786C>T						CAD_uc010eyw.2_Silent_p.P230P	p.P230P	NM_004341	NP_004332	P27708	PYR1_HUMAN			6	852	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		230			Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase).		O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	ENST00000403525.1	37	c.690C>T																																																																																					PASS	0.498	CAD-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000324970.1			58	82	58	82	---	---	---	---
NRBP1	29959	broad.mit.edu	37	2	27660216	27660216	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:27660216C>G	ENST00000233557.3	+	11	1724	c.892C>G	c.(892-894)Cca>Gca	p.P298A	NRBP1_ENST00000379863.3_Missense_Mutation_p.P306A|NRBP1_ENST00000379852.3_Missense_Mutation_p.P298A			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	298	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)	p.P298A(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TCTAGAAGACCCATTACAGAG	0.488																																						uc002rko.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(892-894)CCA>GCA		nuclear receptor binding protein							70.0	65.0	67.0					2																	27660216		2203	4300	6503	SO:0001583	missense	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27660216C>G	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.892C>G	2.37:g.27660216C>G	ENSP00000233557:p.Pro298Ala					NRBP1_uc002rkq.2_Missense_Mutation_p.P298A|NRBP1_uc002rkp.2_Missense_Mutation_p.P298A|NRBP1_uc002rkr.2_Missense_Mutation_p.P89A	p.P298A	NM_013392	NP_037524	Q9UHY1	NRBP_HUMAN			11	1724	+	Acute lymphoblastic leukemia(172;0.155)		298			Protein kinase.		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	ENST00000233557.3	37	c.892C>G	CCDS1753.1	.	.	.	.	.	.	.	.	.	.	C	15.86	2.958740	0.53400	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.35789	1.29;1.29;1.29	5.63	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054356	0.85682	D	0.000000	T	0.49338	0.1551	M	0.65677	2.01	0.80722	D	1	P;B;B	0.52692	0.955;0.081;0.099	P;B;B	0.56127	0.792;0.051;0.058	T	0.47611	-0.9104	10	0.46703	T	0.11	-0.8371	10.333	0.43833	0.0:0.8904:0.0:0.1096	.	278;306;298	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	A	298;278;298;306	ENSP00000233557:P298A;ENSP00000369181:P298A;ENSP00000369192:P306A	ENSP00000233557:P298A	P	+	1	0	NRBP1	27513720	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.180000	0.42537	1.188000	0.43014	0.655000	0.94253	CCA		PASS	0.488	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392		14	30	14	30	---	---	---	---
ZFP36L2	678	broad.mit.edu	37	2	43452474	43452474	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:43452474C>G	ENST00000282388.3	-	2	762	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	157					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E157Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CGGCACAGCTCGGTCTTGTAG	0.652																																						uc002rsv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(469-471)GAG>CAG		zinc finger protein 36, C3H type-like 2							37.0	37.0	37.0					2																	43452474		2202	4300	6502	SO:0001583	missense	678				cell proliferation	nucleus	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:43452474C>G	X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.469G>C	2.37:g.43452474C>G	ENSP00000282388:p.Glu157Gln					LOC100129726_uc010ynx.1_5'Flank	p.E157Q	NM_006887	NP_008818	P47974	TISD_HUMAN			2	760	-		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)	157			C3H1-type 1.|RNA-binding.		Q53TB4|Q9BSJ3	Missense_Mutation	SNP	ENST00000282388.3	37	c.469G>C	CCDS1811.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861249	0.91433	.	.	ENSG00000152518	ENST00000282388	T	0.52526	0.66	4.76	4.76	0.60689	Zinc finger, CCCH-type (3);	0.063998	0.64402	D	0.000010	T	0.70736	0.3258	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76364	-0.2986	10	0.87932	D	0	-28.709	16.6213	0.84931	0.0:1.0:0.0:0.0	.	157	P47974	TISD_HUMAN	Q	157	ENSP00000282388:E157Q	ENSP00000282388:E157Q	E	-	1	0	ZFP36L2	43305978	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.308000	0.78929	2.202000	0.70862	0.555000	0.69702	GAG		PASS	0.652	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887		15	18	15	18	---	---	---	---
TSPYL6	388951	broad.mit.edu	37	2	54482223	54482223	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:54482223C>T	ENST00000317802.7	-	1	1186	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	356					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)		p.D356N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						AGGCTGTGGTCTGAAAACCAG	0.507																																						uc002rxr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1066-1068)GAC>AAC		TSPY-like 6							77.0	82.0	80.0					2																	54482223		2150	4283	6433	SO:0001583	missense	388951				nucleosome assembly	nucleus		g.chr2:54482223C>T	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.1066G>A	2.37:g.54482223C>T	ENSP00000417919:p.Asp356Asn					ACYP2_uc002rxq.3_Intron	p.D356N	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN			1	1187	-			356					Q6NUJ3	Missense_Mutation	SNP	ENST00000317802.7	37	c.1066G>A	CCDS42682.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211426	0.39102	.	.	ENSG00000178021	ENST00000317802	T	0.33216	1.42	1.67	1.67	0.24075	.	.	.	.	.	T	0.42063	0.1186	L	0.54323	1.7	0.46203	D	0.998926	P	0.50272	0.933	P	0.62014	0.897	T	0.18053	-1.0349	9	0.30078	T	0.28	.	9.3274	0.38001	0.0:1.0:0.0:0.0	.	356	Q8N831	TSYL6_HUMAN	N	356	ENSP00000417919:D356N	ENSP00000417919:D356N	D	-	1	0	TSPYL6	54335727	1.000000	0.71417	0.802000	0.32245	0.378000	0.30076	4.537000	0.60643	1.239000	0.43787	0.467000	0.42956	GAC		PASS	0.507	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	XM_371494		14	79	14	79	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61417456	61417456	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:61417456C>G	ENST00000398571.2	-	78	9899	c.9823G>C	c.(9823-9825)Gat>Cat	p.D3275H	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3275					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.D3275H(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTGGAGAAATCAGACTGTAGG	0.403																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(9823-9825)GAT>CAT		ubiquitin specific protease 34							114.0	107.0	109.0					2																	61417456		1828	4093	5921	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61417456C>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9823G>C	2.37:g.61417456C>G	ENSP00000381577:p.Asp3275His					USP34_uc002sbd.2_Missense_Mutation_p.D77H	p.D3275H	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		78	9845	-			3275					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.9823G>C	CCDS42686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	29.6|29.6	5.021021|5.021021	0.93462|0.93462	.|.	.|.	ENSG00000115464|ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269|ENST00000411912	T|.	0.68624|.	-0.34|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.044130|.	0.85682|.	D|.	0.000000|.	T|.	0.48554|.	0.1506|.	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	P|.	0.52316|.	0.952|.	P|.	0.51582|.	0.674|.	T|.	0.40572|.	-0.9556|.	10|.	0.87932|.	D|.	0|.	.|.	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	3275|.	Q70CQ2|.	UBP34_HUMAN|.	H|S	3123;3040;3275;153|951	ENSP00000381577:D3275H|.	ENSP00000263989:D3123H|.	D|X	-|-	1|2	0|2	USP34|USP34	61270960|61270960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.034000|7.034000	0.76511|0.76511	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GAT|TGA		PASS	0.403	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			9	124	9	124	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61524017	61524017	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:61524017G>C	ENST00000398571.2	-	30	4248	c.4172C>G	c.(4171-4173)tCt>tGt	p.S1391C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1391					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S1391C(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GACCCGCCTAGACAGATTTTC	0.388																																						uc002sbe.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(4171-4173)TCT>TGT		ubiquitin specific protease 34							167.0	160.0	163.0					2																	61524017		1886	4116	6002	SO:0001583	missense	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61524017G>C	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.4172C>G	2.37:g.61524017G>C	ENSP00000381577:p.Ser1391Cys						p.S1391C	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		30	4194	-			1391					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	c.4172C>G	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898198	0.91962	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	T	0.08634	3.07	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.22936	0.0554	L	0.36672	1.1	0.80722	D	1	D	0.69078	0.997	D	0.73708	0.981	T	0.00181	-1.1947	10	0.87932	D	0	.	20.0966	0.97849	0.0:0.0:1.0:0.0	.	1391	Q70CQ2	UBP34_HUMAN	C	1239;1239;1391	ENSP00000381577:S1391C	ENSP00000263989:S1239C	S	-	2	0	USP34	61377521	1.000000	0.71417	0.912000	0.35992	0.972000	0.66771	9.771000	0.98977	2.751000	0.94390	0.650000	0.86243	TCT		PASS	0.388	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			27	308	27	308	---	---	---	---
SLC1A4	6509	broad.mit.edu	37	2	65243695	65243695	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:65243695C>A	ENST00000234256.3	+	5	1165	c.922C>A	c.(922-924)Cat>Aat	p.H308N	SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	308					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)	p.H308N(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCATGTTATTCATGGAGGAAT	0.453																																						uc010yqa.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(922-924)CAT>AAT		solute carrier family 1, member 4 isoform 1	L-Alanine(DB00160)						161.0	158.0	159.0					2																	65243695		2203	4300	6503	SO:0001583	missense	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65243695C>A		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.922C>A	2.37:g.65243695C>A	ENSP00000234256:p.His308Asn					SLC1A4_uc010ypy.1_Missense_Mutation_p.H88N|SLC1A4_uc010ypz.1_Intron|SLC1A4_uc010fcv.2_Missense_Mutation_p.H308N|SLC1A4_uc002sdh.2_Missense_Mutation_p.H88N	p.H308N	NM_003038	NP_003029	P43007	SATT_HUMAN			5	1244	+			308			Helical; (Potential).		B7Z3C0|D6W5F0	Missense_Mutation	SNP	ENST00000234256.3	37	c.922C>A	CCDS1879.1	.	.	.	.	.	.	.	.	.	.	C	34	5.320792	0.95682	.	.	ENSG00000115902	ENST00000448784;ENST00000234256	T	0.61392	0.11	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.86339	0.5909	H	0.97962	4.115	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.90299	0.4328	9	.	.	.	-19.4567	20.5827	0.99408	0.0:1.0:0.0:0.0	.	308;308	P43007;B2R7N6	SATT_HUMAN;.	N	228;308	ENSP00000234256:H308N	.	H	+	1	0	SLC1A4	65097199	1.000000	0.71417	0.862000	0.33874	0.992000	0.81027	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	CAT		PASS	0.453	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2	NM_003038		24	362	24	362	---	---	---	---
TIA1	7072	broad.mit.edu	37	2	70456422	70456422	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:70456422G>C	ENST00000433529.2	-	4	461	c.251C>G	c.(250-252)cCt>cGt	p.P84R	TIA1_ENST00000445587.1_Missense_Mutation_p.P84R|TIA1_ENST00000415783.2_Missense_Mutation_p.P84R|TIA1_ENST00000282574.4_Missense_Mutation_p.P84R|TIA1_ENST00000416149.2_Missense_Mutation_p.P84R|C2orf42_ENST00000470096.1_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	84					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)	p.P84R(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TTGACTGCTAGGGGTTGTTGC	0.284																																						uc002sgj.3																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)CCT>CGT		TIA1 cytotoxic granule-associated RNA binding							141.0	150.0	147.0					2																	70456422		2203	4299	6502	SO:0001583	missense	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70456422G>C		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.251C>G	2.37:g.70456422G>C	ENSP00000401371:p.Pro84Arg					TIA1_uc002sgk.3_Missense_Mutation_p.P84R|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Missense_Mutation_p.P84R|TIA1_uc010yqt.1_Missense_Mutation_p.P84R	p.P84R	NM_022173	NP_071505	P31483	TIA1_HUMAN			4	468	-			84					Q53SS9	Missense_Mutation	SNP	ENST00000433529.2	37	c.251C>G	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469260	0.63625	.	.	ENSG00000116001	ENST00000433529;ENST00000415783;ENST00000477807;ENST00000282574;ENST00000445587;ENST00000416149	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.32	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);	0.104529	0.64402	D	0.000002	T	0.67979	0.2951	N	0.08118	0	0.80722	D	1	D;P;D;D	0.89917	1.0;0.808;1.0;0.996	D;P;D;D	0.97110	0.999;0.697;1.0;0.957	T	0.62553	-0.6830	10	0.08381	T	0.77	-6.7331	17.7299	0.88374	0.0:0.0:1.0:0.0	.	84;122;84;84	B4E0E5;Q59G98;P31483-2;P31483	.;.;.;TIA1_HUMAN	R	84;84;122;84;84;84	ENSP00000401371:P84R;ENSP00000404023:P84R;ENSP00000282574:P84R;ENSP00000399567:P84R;ENSP00000413751:P84R	ENSP00000282574:P84R	P	-	2	0	TIA1	70309926	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.165000	0.94761	2.764000	0.94973	0.650000	0.86243	CCT		PASS	0.284	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037		7	124	7	124	---	---	---	---
CTNNA2	1496	broad.mit.edu	37	2	80646714	80646714	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:80646714C>G	ENST00000402739.4	+	8	1283	c.1278C>G	c.(1276-1278)aaC>aaG	p.N426K	CTNNA2_ENST00000466387.1_Missense_Mutation_p.N426K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.N426K|CTNNA2_ENST00000343114.3_Missense_Mutation_p.N105K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.N426K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.N460K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.N426K	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	426					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.N426K(3)		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						AGCATGCCAACAAACTGGTAG	0.433																																						uc010ysh.1																			3	Substitution - Missense(3)		upper_aerodigestive_tract(1)|lung(1)|prostate(1)	pancreas(4)|lung(3)|breast(1)|skin(1)	9						c.(1276-1278)AAC>AAG		catenin, alpha 2 isoform 1							90.0	91.0	91.0					2																	80646714		2033	4235	6268	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.chr2:80646714C>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.1278C>G	2.37:g.80646714C>G	ENSP00000384638:p.Asn426Lys					CTNNA2_uc010yse.1_Missense_Mutation_p.N426K|CTNNA2_uc010ysf.1_Missense_Mutation_p.N426K|CTNNA2_uc010ysg.1_Missense_Mutation_p.N426K|CTNNA2_uc010ysi.1_Missense_Mutation_p.N58K	p.N426K	NM_004389	NP_004380	P26232	CTNA2_HUMAN			8	1283	+			426					B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	ENST00000402739.4	37	c.1278C>G		.	.	.	.	.	.	.	.	.	.	C	15.10	2.731829	0.48939	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488;ENST00000343114;ENST00000409550	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	6.03	1.34	0.21922	.	0.000000	0.85682	D	0.000000	T	0.49677	0.1571	M	0.73598	2.24	0.54753	D	0.999986	B;P;P;P	0.52842	0.362;0.956;0.896;0.896	B;P;B;B	0.46479	0.076;0.518;0.246;0.332	T	0.51710	-0.8671	9	.	.	.	.	10.51	0.44855	0.0:0.6587:0.0:0.3413	.	58;426;426;426	F6KRI5;P26232;P26232-3;P26232-2	.;CTNA2_HUMAN;.;.	K	426;426;460;426;426;426;105;91	ENSP00000418191:N426K;ENSP00000419295:N426K;ENSP00000355398:N460K;ENSP00000384638:N426K;ENSP00000444675:N426K;ENSP00000441705:N426K;ENSP00000341500:N105K;ENSP00000386587:N91K	.	N	+	3	2	CTNNA2	80500225	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.716000	0.47219	0.330000	0.23485	0.655000	0.94253	AAC		PASS	0.433	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000328511.4	NM_004389		25	45	25	45	---	---	---	---
SEPT10	151011	broad.mit.edu	37	2	110310749	110310749	+	Missense_Mutation	SNP	C	C	T	rs370265320		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:110310749C>T	ENST00000397712.2	-	9	1454	c.1076G>A	c.(1075-1077)cGt>cAt	p.R359H	SEPT10_ENST00000468616.1_Intron|SEPT10_ENST00000356688.4_Missense_Mutation_p.R359H|SEPT10_ENST00000397714.2_Missense_Mutation_p.R336H|SEPT10_ENST00000415095.1_Missense_Mutation_p.R359H|SEPT10_ENST00000437928.1_Missense_Mutation_p.R344H|SEPT10_ENST00000334001.6_Missense_Mutation_p.R226H|SEPT10_ENST00000545389.1_Missense_Mutation_p.R192H	NM_144710.3	NP_653311.1	Q9P0V9	SEP10_HUMAN	septin 10	359					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.R359H(1)|p.R336H(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CTTCCTCTGACGTTCACCATG	0.403																																						uc002tew.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1075-1077)CGT>CAT		septin 10 isoform 1							185.0	174.0	178.0					2																	110310749		1914	4131	6045	SO:0001583	missense	151011				cell cycle|cell division	septin complex	GTP binding	g.chr2:110310749C>T	AF146760	CCDS42726.1, CCDS46383.1	2q13	2013-01-21			ENSG00000186522	ENSG00000186522		"""Septins"""	14349	protein-coding gene	gene with protein product	"""sept1-like"""	611737				12711328	Standard	NM_144710		Approved	FLJ11619	uc002tew.4	Q9P0V9	OTTHUMG00000154957	ENST00000397712.2:c.1076G>A	2.37:g.110310749C>T	ENSP00000380824:p.Arg359His					SEPT10_uc010ywu.1_Missense_Mutation_p.R192H|SEPT10_uc002tex.2_Missense_Mutation_p.R336H|SEPT10_uc002tey.2_Missense_Mutation_p.R359H|SEPT10_uc010ywv.1_Missense_Mutation_p.R225H|SEPT10_uc002tev.1_Missense_Mutation_p.R166H|SEPT10_uc010fjo.2_Intron	p.R359H	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN			9	1455	-			359					B3KRQ9|Q86VP5|Q9HAH6	Missense_Mutation	SNP	ENST00000397712.2	37	c.1076G>A	CCDS46383.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.596263	0.28445	.	.	ENSG00000186522	ENST00000356688;ENST00000397712;ENST00000397714;ENST00000334001;ENST00000437928;ENST00000545389;ENST00000415095	D;D;D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64;-1.64;-1.64	5.13	2.28	0.28536	.	0.267324	0.25436	N	0.030691	T	0.69672	0.3137	N	0.08118	0	0.22156	N	0.999324	P;D;P;P;P	0.63880	0.493;0.993;0.9;0.773;0.629	B;P;B;B;B	0.47981	0.172;0.563;0.321;0.397;0.223	T	0.64253	-0.6451	10	0.87932	D	0	.	8.2594	0.31775	0.5573:0.3656:0.0:0.0771	.	226;192;359;336;359	B7Z371;B7Z277;B5ME97;Q9P0V9-3;Q9P0V9	.;.;.;.;SEP10_HUMAN	H	359;359;336;226;344;192;359	ENSP00000349116:R359H;ENSP00000380824:R359H;ENSP00000380826:R336H;ENSP00000334234:R226H;ENSP00000407790:R344H;ENSP00000439364:R192H;ENSP00000396728:R359H	ENSP00000334234:R226H	R	-	2	0	SEPT10	109668038	1.000000	0.71417	0.114000	0.21550	0.240000	0.25518	4.681000	0.61663	0.167000	0.19631	-0.282000	0.10007	CGT		PASS	0.403	SEPT10-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337804.1	NM_144710		23	93	23	93	---	---	---	---
PAX8	7849	broad.mit.edu	37	2	113993011	113993011	+	Silent	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:113993011G>C	ENST00000429538.3	-	9	1241	c.1047C>G	c.(1045-1047)gcC>gcG	p.A349A	AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000397647.3_Intron|AC016683.6_ENST00000437551.1_RNA|PAX8_ENST00000263335.7_Intron|PAX8_ENST00000348715.5_Missense_Mutation_p.P323R|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000431844.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P323R	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	349					anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|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 mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|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 thyroid hormone generation (GO:2000611)|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)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)	p.A349A(1)	PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CGTACACGGAGGCAGCATGGG	0.642			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	uc010yxt.1				Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis 	E	PPARG		follicular thyroid		1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(1045-1047)GCC>GCG		paired box 8 isoform PAX8A							28.0	33.0	31.0					2																	113993011		1920	4130	6050	SO:0001819	synonymous_variant	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:113993011G>C	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.1047C>G	2.37:g.113993011G>C						PAX8_uc010yxu.1_Missense_Mutation_p.P323R|PAX8_uc010yxv.1_Intron|PAX8_uc002tjm.2_Intron|PAX8_uc002tjn.2_Intron|uc002tjp.2_5'Flank|LOC654433_uc002tjq.3_5'Flank|LOC654433_uc010fks.2_5'Flank|LOC654433_uc010fkt.2_5'Flank|LOC654433_uc002tjr.3_5'Flank	p.A349A	NM_003466	NP_003457	Q06710	PAX8_HUMAN			9	1213	-			349					Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Silent	SNP	ENST00000429538.3	37	c.1047C>G	CCDS46398.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.66|16.66	3.185160|3.185160	0.57909|0.57909	.|.	.|.	ENSG00000125618|ENSG00000125618	ENST00000465084|ENST00000348715;ENST00000263334	.|D;D	.|0.97378	.|-4.36;-4.36	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	.|.	.|.	.|.	.|.	D|D	0.96131|0.96131	0.8739|0.8739	.|.	.|.	.|.	0.26322|0.26322	N|N	0.977656|0.977656	.|P	.|0.43701	.|0.815	.|P	.|0.45829	.|0.494	D|D	0.92752|0.92752	0.6217|0.6217	4|8	.|0.62326	.|D	.|0.03	.|.	12.1846|12.1846	0.54231|0.54231	0.0:0.0:0.8294:0.1705|0.0:0.0:0.8294:0.1705	.|.	.|323	.|Q06710-3	.|.	V|R	4|323	.|ENSP00000314750:P323R;ENSP00000263334:P323R	.|ENSP00000263334:P323R	L|P	-|-	1|2	0|0	PAX8|PAX8	113709482|113709482	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.584000|3.584000	0.53936|0.53936	2.655000|2.655000	0.90218|0.90218	0.655000|0.655000	0.94253|0.94253	CTC|CCT		PASS	0.642	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5			4	8	4	8	---	---	---	---
SMPD4	55627	broad.mit.edu	37	2	130912698	130912698	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:130912698T>A	ENST00000409031.1	-	15	2689	c.1541A>T	c.(1540-1542)cAg>cTg	p.Q514L	SMPD4_ENST00000351288.6_Missense_Mutation_p.Q485L|SMPD4_ENST00000452225.2_Missense_Mutation_p.Q255L|SMPD4_ENST00000339679.7_Missense_Mutation_p.Q372L|SMPD4_ENST00000431183.2_Missense_Mutation_p.Q412L|SMPD4_ENST00000426662.2_Missense_Mutation_p.Q150L|SMPD4_ENST00000453750.1_Missense_Mutation_p.Q263L|SMPD4_ENST00000443958.2_Missense_Mutation_p.Q178L|SMPD4_ENST00000473720.1_5'Flank	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	475					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)	p.Q514L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CAGGTTGGGCTGGGCAAAGAC	0.607																																						uc002tqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1540-1542)CAG>CTG		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						71.0	69.0	70.0					2																	130912698		2203	4300	6503	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130912698T>A	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1541A>T	2.37:g.130912698T>A	ENSP00000386531:p.Gln514Leu					SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.Q253L|SMPD4_uc010yzy.1_Missense_Mutation_p.Q263L|SMPD4_uc010yzz.1_Missense_Mutation_p.Q178L|SMPD4_uc002tqr.1_Missense_Mutation_p.Q485L|SMPD4_uc002tqs.1_Missense_Mutation_p.Q382L|SMPD4_uc002tqt.1_Missense_Mutation_p.Q363L|SMPD4_uc010zaa.1_Missense_Mutation_p.Q372L|SMPD4_uc010zab.1_Missense_Mutation_p.Q412L|SMPD4_uc010zac.1_Missense_Mutation_p.Q255L|SMPD4_uc010zad.1_Missense_Mutation_p.Q150L	p.Q514L	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			15	2061	-	Colorectal(110;0.1)		475					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.1541A>T	CCDS42751.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.83|18.83	3.706658|3.706658	0.68615|0.68615	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039;ENST00000449159;ENST00000451542|ENST00000439886	.|.	.|.	.|.	4.24|4.24	4.24|4.24	0.50183|0.50183	.|.	0.059478|.	0.64402|.	D|.	0.000002|.	T|T	0.74854|0.74854	0.3771|0.3771	M|M	0.83483|0.83483	2.645|2.645	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D;D;D;B;P;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;0.989;0.095;0.905;1.0;0.962|.	D;D;D;D;D;B;P;D;D|.	0.91635|.	0.999;0.999;0.997;0.997;0.978;0.015;0.548;0.999;0.946|.	T|T	0.76990|0.76990	-0.2754|-0.2754	9|5	0.72032|.	D|.	0.01|.	.|.	11.314|11.314	0.49381|0.49381	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	150;255;412;372;263;446;475;514;521|.	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4|.	.;.;.;.;.;.;NSMA3_HUMAN;.;.|.	L|C	485;514;412;263;178;372;255;150;111;50;256|389	.|.	ENSP00000339721:Q372L|.	Q|S	-|-	2|1	0|0	SMPD4|SMPD4	130629168|130629168	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.912000|0.912000	0.54170|0.54170	7.313000|7.313000	0.78978|0.78978	1.538000|1.538000	0.49270|0.49270	0.254000|0.254000	0.18369|0.18369	CAG|AGC		PASS	0.607	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		12	43	12	43	---	---	---	---
MAP3K19	80122	broad.mit.edu	37	2	135757526	135757526	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:135757526C>T	ENST00000375845.3	-	4	325	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	MAP3K19_ENST00000375844.3_Missense_Mutation_p.E99K|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E99K|MAP3K19_ENST00000392915.1_Missense_Mutation_p.E116K|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392917.3_Missense_Mutation_p.E99K|MAP3K19_ENST00000358371.4_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	99							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E99K(1)									TTTAAGTCTTCTTGGCTCATT	0.348																																						uc002tue.1																			1	Substitution - Missense(1)		lung(1)	stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(295-297)GAA>AAA		Yeast Sps1/Ste20-related kinase 4 isoform 1							183.0	167.0	173.0					2																	135757526		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135757526C>T	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.295G>A	2.37:g.135757526C>T	ENSP00000365005:p.Glu99Lys					YSK4_uc010fne.1_Missense_Mutation_p.E71K|YSK4_uc002tuf.1_Missense_Mutation_p.E99K|YSK4_uc010fnc.1_Missense_Mutation_p.E99K|YSK4_uc010fnd.1_Intron|YSK4_uc010zbg.1_Missense_Mutation_p.E99K|YSK4_uc002tui.3_Missense_Mutation_p.E116K	p.E99K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	4	326	-			99					B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.295G>A	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024029	0.54683	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915;ENST00000425952	T;T;T;T;T	0.73575	-0.75;-0.76;-0.74;-0.62;1.61	4.11	4.11	0.48088	.	0.323633	0.22416	N	0.060352	D	0.82765	0.5108	M	0.69823	2.125	0.80722	D	1	B;D;P;D;P;D	0.71674	0.39;0.998;0.525;0.998;0.525;0.989	B;D;B;D;B;P	0.72338	0.079;0.977;0.217;0.977;0.164;0.827	T	0.80448	-0.1378	10	0.29301	T	0.29	.	12.0438	0.53469	0.0:1.0:0.0:0.0	.	99;99;99;116;99;99	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	K	99;99;99;99;116;71	ENSP00000365005:E99K;ENSP00000365004:E99K;ENSP00000376650:E99K;ENSP00000376649:E99K;ENSP00000376647:E116K	ENSP00000365004:E99K	E	-	1	0	YSK4	135473996	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.067000	0.50010	2.298000	0.77334	0.655000	0.94253	GAA		PASS	0.348	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052		22	67	22	67	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141274476	141274476	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:141274476G>T	ENST00000389484.3	-	50	9102	c.8131C>A	c.(8131-8133)Cgt>Agt	p.R2711S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2711	LDL-receptor class A 15. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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.R2711S(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)		AATTCATCACGTCCATCCTCA	0.328										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.(8131-8133)CGT>AGT		low density lipoprotein-related protein 1B							161.0	147.0	152.0					2																	141274476		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141274476G>T	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.8131C>A	2.37:g.141274476G>T	ENSP00000374135:p.Arg2711Ser	TSP Lung(27;0.18)					p.R2711S	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)	50	9103	-		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)	2711			Extracellular (Potential).|LDL-receptor class A 15.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.8131C>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	1.615	-0.523108	0.04141	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91295	-2.82	4.92	1.97	0.26223	.	0.286341	0.26955	U	0.021653	T	0.54565	0.1866	N	0.00096	-2.155	0.09310	N	0.999996	B	0.02656	0.0	B	0.04013	0.001	T	0.62798	-0.6778	10	0.02654	T	1	.	3.1278	0.06413	0.0924:0.3939:0.2893:0.2244	.	2711	Q9NZR2	LRP1B_HUMAN	S	2711;2649	ENSP00000374135:R2711S	ENSP00000374135:R2711S	R	-	1	0	LRP1B	140990946	1.000000	0.71417	0.994000	0.49952	0.942000	0.58702	2.647000	0.46639	0.453000	0.26858	0.563000	0.77884	CGT		PASS	0.328	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		12	56	12	56	---	---	---	---
NEB	4703	broad.mit.edu	37	2	152497110	152497110	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:152497110G>C	ENST00000172853.10	-	61	8591	c.8444C>G	c.(8443-8445)cCc>cGc	p.P2815R	NEB_ENST00000397345.3_Missense_Mutation_p.P2815R|NEB_ENST00000604864.1_Missense_Mutation_p.P2815R|NEB_ENST00000603639.1_Missense_Mutation_p.P2815R|NEB_ENST00000427231.2_Missense_Mutation_p.P2815R|NEB_ENST00000409198.1_Missense_Mutation_p.P2815R			P20929	NEBU_HUMAN	nebulin	2815					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.P2815R(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATCATCTTGGGGTCATCACG	0.488																																						uc010fnx.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(8443-8445)CCC>CGC		nebulin isoform 3							222.0	208.0	212.0					2																	152497110		1929	4139	6068	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152497110G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.8444C>G	2.37:g.152497110G>C	ENSP00000172853:p.Pro2815Arg					NEB_uc002txu.2_5'Flank	p.P2815R	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	61	8635	-			2815			Nebulin 76.		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.8444C>G		.	.	.	.	.	.	.	.	.	.	G	28.5	4.929085	0.92389	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	6.07	6.07	0.98685	.	0.059392	0.64402	D	0.000002	D	0.85539	0.5720	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86440	0.1766	10	0.87932	D	0	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	2815	P20929	NEBU_HUMAN	R	2815	ENSP00000386259:P2815R;ENSP00000380505:P2815R;ENSP00000416578:P2815R;ENSP00000172853:P2815R	ENSP00000172853:P2815R	P	-	2	0	NEB	152205356	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	9.694000	0.98686	2.885000	0.99019	0.655000	0.94253	CCC		PASS	0.488	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		54	247	54	247	---	---	---	---
CCDC148	130940	broad.mit.edu	37	2	159033122	159033122	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:159033122C>A	ENST00000283233.5	-	13	1853	c.1540G>T	c.(1540-1542)Gca>Tca	p.A514S	CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Missense_Mutation_p.A523S	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	514								p.A514S(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GCTTTTGATGCCATTGTATCT	0.343																																						uc002tzq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1540-1542)GCA>TCA		coiled-coil domain containing 148							119.0	100.0	107.0					2																	159033122		2203	4299	6502	SO:0001583	missense	130940							g.chr2:159033122C>A		CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1540G>T	2.37:g.159033122C>A	ENSP00000283233:p.Ala514Ser					CCDC148_uc002tzr.2_Missense_Mutation_p.A362S|CCDC148_uc010foh.2_Missense_Mutation_p.A227S	p.A514S	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN			13	1803	-			514					F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	Missense_Mutation	SNP	ENST00000283233.5	37	c.1540G>T	CCDS33304.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.269179	0.80469	.	.	ENSG00000153237	ENST00000283233;ENST00000409187	T;T	0.53423	0.62;0.62	5.82	4.91	0.64330	.	.	.	.	.	T	0.58221	0.2107	L	0.49513	1.565	0.80722	D	1	D;D	0.60160	0.974;0.987	P;P	0.59221	0.854;0.854	T	0.54689	-0.8256	9	0.40728	T	0.16	-13.3763	15.6831	0.77388	0.0:0.8631:0.1369:0.0	.	523;514	B8ZZV3;Q8NFR7	.;CC148_HUMAN	S	514;523	ENSP00000283233:A514S;ENSP00000386674:A523S	ENSP00000283233:A514S	A	-	1	0	CCDC148	158741368	0.972000	0.33761	0.999000	0.59377	0.951000	0.60555	1.634000	0.37123	2.758000	0.94735	0.555000	0.69702	GCA		PASS	0.343	CCDC148-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333270.1	NM_138803		11	31	11	31	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179593309	179593309	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:179593309C>A	ENST00000591111.1	-	64	18617	c.18393G>T	c.(18391-18393)atG>atT	p.M6131I	TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M6448I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M5204I|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12918	Ig-like 42.				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.M5204I(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)			TGTCCTGCTTCATTACTGACT	0.408																																						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.(15610-15612)ATG>ATT		titin isoform N2-A							67.0	60.0	63.0					2																	179593309		1887	4121	6008	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179593309C>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.18393G>T	2.37:g.179593309C>A	ENSP00000465570:p.Met6131Ile					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M1865I	p.M5204I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		63	15836	-			6131					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.15612G>T		.	.	.	.	.	.	.	.	.	.	C	6.475	0.455803	0.12283	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	5.63	5.63	0.86233	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.51227	0.1662	N	0.16266	0.395	0.80722	D	1	P	0.34780	0.468	B	0.35607	0.206	T	0.56619	-0.7949	9	0.87932	D	0	.	10.7118	0.45988	0.0:0.7979:0.1317:0.0704	.	6131	Q8WZ42	TITIN_HUMAN	I	5204	ENSP00000343764:M5204I	ENSP00000343764:M5204I	M	-	3	0	TTN	179301554	1.000000	0.71417	1.000000	0.80357	0.564000	0.35744	1.129000	0.31381	2.826000	0.97356	0.655000	0.94253	ATG		PASS	0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	19	18	19	---	---	---	---
SLC39A10	57181	broad.mit.edu	37	2	196548515	196548515	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:196548515G>T	ENST00000409086.3	+	3	1376	c.1101G>T	c.(1099-1101)ttG>ttT	p.L367F	SLC39A10_ENST00000541054.1_5'UTR|SLC39A10_ENST00000359634.5_Missense_Mutation_p.L367F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	367					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.L367F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GCCCTGCATTGTTATATCAAA	0.363																																						uc002utg.3																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(1099-1101)TTG>TTT		solute carrier family 39 (zinc transporter),							135.0	129.0	131.0					2																	196548515		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196548515G>T		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1101G>T	2.37:g.196548515G>T	ENSP00000386766:p.Leu367Phe					SLC39A10_uc002uth.3_Missense_Mutation_p.L367F|SLC39A10_uc010zgp.1_5'UTR	p.L367F	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		3	1315	+			367					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.1101G>T	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.186847	0.57909	.	.	ENSG00000196950	ENST00000409086;ENST00000359634	T;T	0.78003	-1.14;-1.14	4.95	3.11	0.35812	.	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84958	0.0875	10	0.87932	D	0	.	11.0165	0.47691	0.2109:0.0:0.7891:0.0	.	367	Q9ULF5	S39AA_HUMAN	F	367	ENSP00000386766:L367F;ENSP00000352655:L367F	ENSP00000352655:L367F	L	+	3	2	SLC39A10	196256760	1.000000	0.71417	0.889000	0.34880	0.727000	0.41649	2.663000	0.46774	1.316000	0.45131	0.650000	0.86243	TTG		PASS	0.363	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707		47	72	47	72	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196722277	196722277	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:196722277C>T	ENST00000312428.6	-	44	8338	c.8238G>A	c.(8236-8238)atG>atA	p.M2746I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2746	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.M2746I(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCAGAAACCTCATGTCACCAA	0.378																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(8236-8238)ATG>ATA		dynein, axonemal, heavy chain 7							87.0	84.0	85.0					2																	196722277		1824	4075	5899	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196722277C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8238G>A	2.37:g.196722277C>T	ENSP00000311273:p.Met2746Ile						p.M2746I	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			44	8339	-			2746			Stalk (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.8238G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311598	0.23821	.	.	ENSG00000118997	ENST00000312428	T	0.72394	-0.65	5.27	-3.59	0.04583	Dynein heavy chain, coiled coil stalk (1);	0.111229	0.64402	N	0.000012	T	0.51176	0.1659	L	0.52011	1.625	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.09509	-1.0671	10	0.31617	T	0.26	.	1.0033	0.01482	0.1889:0.2886:0.2824:0.2402	.	2746	Q8WXX0	DYH7_HUMAN	I	2746	ENSP00000311273:M2746I	ENSP00000311273:M2746I	M	-	3	0	DNAH7	196430522	0.409000	0.25368	0.203000	0.23512	0.934000	0.57294	-0.230000	0.09083	-0.842000	0.04195	-1.075000	0.02238	ATG		PASS	0.378	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		35	60	35	60	---	---	---	---
NRP2	8828	broad.mit.edu	37	2	206587416	206587416	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:206587416G>T	ENST00000357785.5	+	4	679	c.648G>T	c.(646-648)tgG>tgT	p.W216C	NRP2_ENST00000272849.3_Missense_Mutation_p.W216C|NRP2_ENST00000540841.1_Missense_Mutation_p.W216C|NRP2_ENST00000417189.1_Missense_Mutation_p.W216C|NRP2_ENST00000357118.4_Missense_Mutation_p.W216C|NRP2_ENST00000412873.2_Missense_Mutation_p.W216C|NRP2_ENST00000540178.1_Missense_Mutation_p.W216C|NRP2_ENST00000360409.3_Missense_Mutation_p.W216C|NRP2_ENST00000355117.4_Missense_Mutation_p.W216C			Q99435	NELL2_HUMAN	neuropilin 2	0	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.W216C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGGACATCTGGGATGGCATTC	0.488																																						uc002vaw.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(646-648)TGG>TGT		neuropilin 2 isoform 1 precursor							157.0	116.0	130.0					2																	206587416		2203	4300	6503	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206587416G>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.648G>T	2.37:g.206587416G>T	ENSP00000350432:p.Trp216Cys					NRP2_uc002vat.2_Missense_Mutation_p.W216C|NRP2_uc002vau.2_Missense_Mutation_p.W216C|NRP2_uc002vav.2_Missense_Mutation_p.W216C|NRP2_uc002vax.2_Missense_Mutation_p.W216C|NRP2_uc002vay.2_Missense_Mutation_p.W216C|NRP2_uc010fud.2_Missense_Mutation_p.W216C	p.W216C	NM_201266	NP_957718	O60462	NRP2_HUMAN			4	1439	+			216			Extracellular (Potential).|CUB 2.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.648G>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.774882	0.70107	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	6.17	5.3	0.74995	CUB (5);	0.000000	0.85682	D	0.000000	T	0.60830	0.2299	M	0.84433	2.695	0.80722	D	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;1.0;1.0;1.0;1.0	T	0.68515	-0.5388	10	0.87932	D	0	-14.6934	15.5517	0.76158	0.0655:0.0:0.9345:0.0	.	216;216;216;216;216;216	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	C	216	ENSP00000353582:W216C;ENSP00000439658:W216C;ENSP00000439261:W216C;ENSP00000347238:W216C;ENSP00000387519:W216C;ENSP00000349632:W216C;ENSP00000350432:W216C;ENSP00000407626:W216C;ENSP00000272849:W216C	ENSP00000272849:W216C	W	+	3	0	NRP2	206295661	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.869000	0.99810	1.635000	0.50512	0.655000	0.94253	TGG		PASS	0.488	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			14	23	14	23	---	---	---	---
INPP5D	3635	broad.mit.edu	37	2	234091109	234091109	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr2:234091109G>C	ENST00000359570.5	+	21	2089	c.2089G>C	c.(2089-2091)Gag>Cag	p.E697Q	INPP5D_ENST00000455936.2_Missense_Mutation_p.E461Q|INPP5D_ENST00000450745.1_Missense_Mutation_p.E461Q|INPP5D_ENST00000538935.1_3'UTR			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	709					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)	p.E709Q(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGCCACATTTGAGGCAGGAGT	0.512																																					NSCLC(82;1215 1426 16163 20348 41018)	uc010zmo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2125-2127)GAG>CAG		SH2 containing inositol phosphatase isoform a							171.0	167.0	169.0					2																	234091109		2056	4209	6265	SO:0001583	missense	3635				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	g.chr2:234091109G>C	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2089G>C	2.37:g.234091109G>C	ENSP00000352575:p.Glu697Gln					INPP5D_uc010zmp.1_Missense_Mutation_p.E708Q	p.E709Q	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)	18	2278	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)	709					O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37	c.2125G>C		.	.	.	.	.	.	.	.	.	.	G	15.45	2.835999	0.50951	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964	D;D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71;-3.71	5.47	5.47	0.80525	Endonuclease/exonuclease/phosphatase (1);Inositol polyphosphate-related phosphatase (1);	0.144445	0.64402	D	0.000009	D	0.91560	0.7334	.	.	.	0.39979	D	0.974897	P;P	0.46912	0.828;0.886	B;B	0.35353	0.201;0.15	D	0.92029	0.5632	9	0.40728	T	0.16	.	14.8787	0.70516	0.0:0.1432:0.8568:0.0	.	708;709	Q92835-2;Q92835	.;SHIP1_HUMAN	Q	697;461;461;330;330;330	ENSP00000352575:E697Q;ENSP00000407916:E461Q;ENSP00000404610:E461Q;ENSP00000400151:E330Q;ENSP00000397421:E330Q;ENSP00000405338:E330Q	ENSP00000352575:E697Q	E	+	1	0	INPP5D	233755848	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	6.106000	0.71511	2.576000	0.86940	0.591000	0.81541	GAG		PASS	0.512	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001017915		45	73	45	73	---	---	---	---
GRM7	2917	broad.mit.edu	37	3	7348196	7348196	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:7348196C>G	ENST00000357716.4	+	4	1164	c.890C>G	c.(889-891)gCa>gGa	p.A297G	GRM7_ENST00000486284.1_Missense_Mutation_p.A297G|GRM7_ENST00000403881.1_Missense_Mutation_p.A297G|GRM7_ENST00000389336.4_Missense_Mutation_p.A297G|GRM7_ENST00000402647.2_Missense_Mutation_p.A297G	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	297					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)	p.A297G(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						CAGATCCTTGCAGCAGCCAAA	0.438																																						uc003bqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)	7						c.(889-891)GCA>GGA		glutamate receptor, metabotropic 7 isoform a	L-Glutamic Acid(DB00142)						83.0	88.0	86.0					3																	7348196		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7348196C>G	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.890C>G	3.37:g.7348196C>G	ENSP00000350348:p.Ala297Gly					GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.A297G|GRM7_uc003bql.2_Missense_Mutation_p.A297G|GRM7_uc003bqn.1_5'UTR	p.A297G	NM_000844	NP_000835	Q14831	GRM7_HUMAN			4	1164	+			297			Extracellular (Potential).		Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.890C>G	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627194	0.46944	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.86230	-2.09;-2.09;-2.09;-2.09;-2.09;-2.09	5.65	5.65	0.86999	Extracellular ligand-binding receptor (1);	0.245191	0.41823	D	0.000803	D	0.85427	0.5694	L	0.50333	1.59	0.31129	N	0.708003	B;B;B	0.16802	0.015;0.019;0.0	B;B;B	0.20184	0.017;0.028;0.014	T	0.81178	-0.1051	10	0.44086	T	0.13	.	18.7028	0.91627	0.0:1.0:0.0:0.0	.	297;297;297	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	G	89;297;297;297;297;297;297;297	ENSP00000393799:A89G;ENSP00000350348:A297G;ENSP00000417536:A297G;ENSP00000373987:A297G;ENSP00000385664:A297G;ENSP00000384585:A297G	ENSP00000350348:A297G	A	+	2	0	GRM7	7323196	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	4.132000	0.57977	2.843000	0.97960	0.585000	0.79938	GCA		PASS	0.438	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		39	80	39	80	---	---	---	---
TTLL3	26140	broad.mit.edu	37	3	9854643	9854643	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:9854643C>T	ENST00000547186.1	+	3	281	c.65C>T	c.(64-66)aCa>aTa	p.T22I	RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000427853.3_5'Flank|TTLL3_ENST00000426895.4_Missense_Mutation_p.T165I|TTLL3_ENST00000397241.1_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.T116I	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	22					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.T22I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AAGATCTTTACAATCCAAGGC	0.517																																						uc003btg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(64-66)ACA>ATA		tubulin tyrosine ligase-like family, member 3							61.0	65.0	64.0					3																	9854643		1926	4141	6067	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9854643C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.65C>T	3.37:g.9854643C>T	ENSP00000446659:p.Thr22Ile					ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.T22I|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_5'Flank|TTLL3_uc003bth.3_5'Flank	p.T22I	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			3	281	+	Medulloblastoma(99;0.227)		22					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.65C>T		.	.	.	.	.	.	.	.	.	.	C	11.49	1.653020	0.29336	.	.	ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000397256;ENST00000414814;ENST00000452597;ENST00000419081;ENST00000438596;ENST00000417065;ENST00000439814;ENST00000418745;ENST00000430718;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000422738	T;T;T;T;T;T;T;T;T;T;T;T;T	0.14266	2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52;2.52	5.64	4.52	0.55395	.	0.997417	0.08117	U	0.995349	T	0.09555	0.0235	N	0.25332	0.735	0.80722	D	1	B	0.21688	0.059	B	0.18871	0.023	T	0.13548	-1.0505	10	0.10636	T	0.68	.	6.9251	0.24410	0.0:0.2783:0.0:0.7217	.	22	Q9Y4R7	TTLL3_HUMAN	I	116;22;22;22;21;22;22;22;22;165;22;22;22	ENSP00000380427:T116I;ENSP00000399930:T22I;ENSP00000399782:T22I;ENSP00000401686:T22I;ENSP00000414965:T21I;ENSP00000408128:T22I;ENSP00000394481:T22I;ENSP00000400462:T22I;ENSP00000402197:T22I;ENSP00000392549:T165I;ENSP00000446659:T22I;ENSP00000389904:T22I;ENSP00000412915:T22I	ENSP00000380427:T116I	T	+	2	0	ARPC4-TTLL3;TTLL3	9829643	1.000000	0.71417	1.000000	0.80357	0.436000	0.31835	1.417000	0.34770	1.007000	0.39238	0.655000	0.94253	ACA		PASS	0.517	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		31	48	31	48	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19574939	19574939	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:19574939T>A	ENST00000328405.2	+	16	2938	c.2672T>A	c.(2671-2673)gTg>gAg	p.V891E		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	891					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	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.V891E(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATGAGAAATGTGATCCAGCTT	0.458																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(2671-2673)GTG>GAG		potassium voltage-gated channel, subfamily H,							115.0	100.0	105.0					3																	19574939		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19574939T>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2672T>A	3.37:g.19574939T>A	ENSP00000328813:p.Val891Glu					KCNH8_uc010hex.1_Missense_Mutation_p.V352E	p.V891E	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			16	2867	+			891			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2672T>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	T	16.47	3.131136	0.56828	.	.	ENSG00000183960	ENST00000328405	D	0.98822	-5.16	5.68	5.68	0.88126	.	0.925832	0.08642	U	0.915388	D	0.97346	0.9132	L	0.46157	1.445	0.80722	D	1	P	0.40398	0.716	B	0.38803	0.282	D	0.93478	0.6825	9	.	.	.	.	15.9265	0.79621	0.0:0.0:0.0:1.0	.	891	Q96L42	KCNH8_HUMAN	E	891	ENSP00000328813:V891E	.	V	+	2	0	KCNH8	19549943	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	5.833000	0.69349	2.159000	0.67721	0.533000	0.62120	GTG		PASS	0.458	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		40	78	40	78	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19574965	19574965	+	Missense_Mutation	SNP	T	T	A	rs201196698		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:19574965T>A	ENST00000328405.2	+	16	2964	c.2698T>A	c.(2698-2700)Tca>Aca	p.S900T		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	900					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	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.S900T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAACGTTCTGTCACCTCAGCA	0.493																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(1)	5						c.(2698-2700)TCA>ACA		potassium voltage-gated channel, subfamily H,							118.0	102.0	108.0					3																	19574965		2203	4300	6503	SO:0001583	missense	131096					integral to membrane	two-component sensor activity	g.chr3:19574965T>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.2698T>A	3.37:g.19574965T>A	ENSP00000328813:p.Ser900Thr					KCNH8_uc010hex.1_Missense_Mutation_p.S361T	p.S900T	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			16	2893	+			900			Cytoplasmic (Potential).		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	c.2698T>A	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	T	2.742	-0.262077	0.05791	.	.	ENSG00000183960	ENST00000328405	D	0.98531	-4.98	5.68	2.01	0.26516	.	0.507256	0.12639	U	0.451474	D	0.93861	0.8036	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	D	0.83703	0.0183	9	.	.	.	.	0.771	0.01024	0.2151:0.1495:0.3235:0.3119	.	900	Q96L42	KCNH8_HUMAN	T	900	ENSP00000328813:S900T	.	S	+	1	0	KCNH8	19549969	0.664000	0.27457	0.983000	0.44433	0.852000	0.48524	0.583000	0.23849	2.159000	0.67721	0.533000	0.62120	TCA		PASS	0.493	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		40	73	40	73	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38888748	38888748	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:38888748C>G	ENST00000302328.3	-	26	5011	c.4813G>C	c.(4813-4815)Gag>Cag	p.E1605Q	SCN11A_ENST00000450244.1_Missense_Mutation_p.E1605Q|SCN11A_ENST00000456224.3_Missense_Mutation_p.E1567Q	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1605					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.E1605Q(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)	TTGAAGTTCTCTAAAATCACA	0.408																																						uc011ays.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4813-4815)GAG>CAG		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						113.0	115.0	114.0					3																	38888748		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38888748C>G	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.4813G>C	3.37:g.38888748C>G	ENSP00000307599:p.Glu1605Gln						p.E1605Q	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	26	5012	-			1605			IV.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4813G>C	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.716814	0.89205	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224	D;D;D	0.97642	-4.47;-4.47;-4.47	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.98865	0.9616	M	0.92880	3.355	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.99683	1.0999	10	0.87932	D	0	.	19.0224	0.92920	0.0:1.0:0.0:0.0	.	1605	Q9UI33	SCNBA_HUMAN	Q	1605;1605;1567	ENSP00000307599:E1605Q;ENSP00000400945:E1605Q;ENSP00000416757:E1567Q	ENSP00000307599:E1605Q	E	-	1	0	SCN11A	38863752	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.755000	0.85180	2.482000	0.83794	0.446000	0.29264	GAG		PASS	0.408	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		26	58	26	58	---	---	---	---
SCN11A	11280	broad.mit.edu	37	3	38904708	38904708	+	Missense_Mutation	SNP	T	T	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:38904708T>G	ENST00000302328.3	-	24	4232	c.4034A>C	c.(4033-4035)cAa>cCa	p.Q1345P	SCN11A_ENST00000450244.1_Missense_Mutation_p.Q1345P|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q1345P|SCN11A_ENST00000456224.3_Missense_Mutation_p.Q1307P	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1345					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.Q1345P(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)	AATGGGTTTTTGAGGTTTTTT	0.368																																						uc011ays.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(4033-4035)CAA>CCA		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						147.0	133.0	138.0					3																	38904708		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38904708T>G	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.4034A>C	3.37:g.38904708T>G	ENSP00000307599:p.Gln1345Pro					SCN11A_uc003cis.1_Missense_Mutation_p.Q10P	p.Q1345P	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	24	4233	-			1345					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.4034A>C	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	14.30	2.495322	0.44352	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.96427	-4.01;-4.01;-3.98;-3.9	5.51	3.04	0.35103	.	0.119927	0.56097	D	0.000021	D	0.95510	0.8541	M	0.84773	2.715	0.39253	D	0.964063	B	0.10296	0.003	B	0.12156	0.007	D	0.92347	0.5886	10	0.72032	D	0.01	.	10.1755	0.42935	0.3813:0.0:0.0:0.6187	.	1345	Q9UI33	SCNBA_HUMAN	P	1345;1345;1307;1345	ENSP00000307599:Q1345P;ENSP00000400945:Q1345P;ENSP00000416757:Q1307P;ENSP00000408028:Q1345P	ENSP00000307599:Q1345P	Q	-	2	0	SCN11A	38879712	0.998000	0.40836	0.998000	0.56505	0.986000	0.74619	2.720000	0.47252	0.345000	0.23873	-0.301000	0.09380	CAA		PASS	0.368	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		13	30	13	30	---	---	---	---
MYRIP	25924	broad.mit.edu	37	3	40192641	40192641	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:40192641C>A	ENST00000302541.6	+	4	777	c.435C>A	c.(433-435)caC>caA	p.H145Q	MYRIP_ENST00000425621.1_Missense_Mutation_p.H145Q|MYRIP_ENST00000539167.1_5'UTR|MYRIP_ENST00000444716.1_Missense_Mutation_p.H145Q|MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	145	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)	p.H145Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACAGGAAGCACCGGCTGGAGA	0.557																																						uc003cka.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	5						c.(433-435)CAC>CAA		myosin VIIA and Rab interacting protein							36.0	37.0	37.0					3																	40192641		2203	4300	6503	SO:0001583	missense	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40192641C>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.435C>A	3.37:g.40192641C>A	ENSP00000301972:p.His145Gln					MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Missense_Mutation_p.H145Q|MYRIP_uc010hhw.2_Intron|MYRIP_uc010hhx.1_Missense_Mutation_p.H145Q|MYRIP_uc011ayz.1_5'UTR	p.H145Q	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	4	570	+			145			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	ENST00000302541.6	37	c.435C>A	CCDS2689.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740786	0.69304	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621	T;T;T	0.36157	1.27;1.27;1.48	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.54775	0.1879	M	0.66939	2.045	0.80722	D	1	D;D;D	0.71674	0.979;0.988;0.998	D;D;D	0.72982	0.953;0.979;0.974	T	0.53676	-0.8405	9	.	.	.	.	10.5743	0.45219	0.0:0.9126:0.0:0.0874	.	145;145;145	B3KWW4;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	Q	145	ENSP00000398665:H145Q;ENSP00000301972:H145Q;ENSP00000389323:H145Q	.	H	+	3	2	MYRIP	40167645	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	2.605000	0.46283	2.651000	0.90000	0.563000	0.77884	CAC		PASS	0.557	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		8	24	8	24	---	---	---	---
TMA7	51372	broad.mit.edu	37	3	48481715	48481715	+	Silent	SNP	C	C	T	rs1058384		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:48481715C>T	ENST00000438607.2	+	1	49	c.9C>T	c.(7-9)ggC>ggT	p.G3G	RP11-24C3.2_ENST00000438872.1_RNA|CCDC51_ENST00000395696.1_5'Flank|CCDC51_ENST00000412398.2_5'Flank|CCDC51_ENST00000447018.1_5'Flank|RP11-24C3.2_ENST00000435578.1_RNA|CCDC51_ENST00000442740.1_5'Flank|CCDC51_ENST00000395694.2_5'Flank	NM_015933.3	NP_057017.1	Q9Y2S6	TMA7_HUMAN	translation machinery associated 7 homolog (S. cerevisiae)	3								p.G3G(1)		lung(1)	1						CCATGTCCGGCCGCGAAGGTA	0.716													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13009	0.0		0.0	False		,,,				2504	0.0					uc003cte.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(7-9)GGC>GGT		coiled-coil domain containing 72		C		1,3711		0,1,1855	23.0	31.0	29.0		9	3.2	1.0	3	dbSNP_86	29	0,8154		0,0,4077	no	coding-synonymous	CCDC72	NM_015933.3		0,1,5932	TT,TC,CC		0.0,0.0269,0.0084		3/65	48481715	1,11865	1856	4077	5933	SO:0001819	synonymous_variant	51372							g.chr3:48481715C>T	AF077202	CCDS46823.1	3p21.31	2013-02-22	2013-02-22	2012-06-07	ENSG00000232112	ENSG00000232112			26932	protein-coding gene	gene with protein product		615808	"""coiled-coil domain containing 72"""	CCDC72		11042152, 15740594	Standard	NM_015933		Approved	HSPC016	uc003cte.1	Q9Y2S6	OTTHUMG00000156588	ENST00000438607.2:c.9C>T	3.37:g.48481715C>T						CCDC51_uc003csz.2_5'Flank|CCDC51_uc003cta.2_5'Flank|CCDC51_uc003ctb.2_5'Flank|CCDC51_uc003ctc.2_5'Flank|CCDC51_uc003ctd.2_5'Flank	p.G3G	NM_015933	NP_057017	Q9Y2S6	CCD72_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	1	30	+			3					Q9P052	Silent	SNP	ENST00000438607.2	37	c.9C>T	CCDS46823.1																																																																																				PASS	0.716	TMA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344688.1	NM_015933		20	55	20	55	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53844043	53844043	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:53844043G>A	ENST00000350061.5	+	47	6421	c.5910G>A	c.(5908-5910)caG>caA	p.Q1970Q	CACNA1D_ENST00000288139.4_Silent_p.Q1990Q|CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Silent_p.Q1946Q	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1970					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.Q1990Q(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAAAGCCCAGAAGTACTCAC	0.602																																						uc003dgv.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(5908-5910)CAG>CAA		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						65.0	68.0	67.0					3																	53844043		2203	4300	6503	SO:0001819	synonymous_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53844043G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5910G>A	3.37:g.53844043G>A						CACNA1D_uc003dgu.3_Silent_p.Q1990Q|CACNA1D_uc003dgy.3_Silent_p.Q1946Q|CACNA1D_uc003dgw.3_Silent_p.Q1637Q|CACNA1D_uc011bes.1_RNA	p.Q1970Q	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	47	6073	+			1970			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	c.5910G>A	CCDS46848.1																																																																																				PASS	0.602	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		31	59	31	59	---	---	---	---
ACOX2	8309	broad.mit.edu	37	3	58502934	58502934	+	Splice_Site	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:58502934G>A	ENST00000302819.5	-	13	2140	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Splice_Site_p.R603W	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	617					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)	p.R617W(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		GCCACTCACCGGATCAGGCGG	0.512																																						uc003dkl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1849-1851)CGG>TGG		acyl-Coenzyme A oxidase 2							88.0	77.0	81.0					3																	58502934		2203	4300	6503	SO:0001630	splice_region_variant	8309				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity	g.chr3:58502934G>A	X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1850+1C>T	3.37:g.58502934G>A							p.R617W	NM_003500	NP_003491	Q99424	ACOX2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)	13	2024	-			617					A6NF16|B2R8U5	Missense_Mutation	SNP	ENST00000302819.5	37	c.1849C>T	CCDS33775.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332327	0.60853	.	.	ENSG00000168306	ENST00000459701;ENST00000302819	T;T	0.65916	-0.18;-0.18	4.91	3.05	0.35203	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.000000	0.64402	D	0.000014	D	0.83161	0.5194	M	0.93808	3.46	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.87155	0.2211	10	0.87932	D	0	-31.0197	14.1166	0.65159	0.0:0.0:0.7269:0.273	.	617	Q99424	ACOX2_HUMAN	W	603;617	ENSP00000418562:R603W;ENSP00000307697:R617W	ENSP00000307697:R617W	R	-	1	2	ACOX2	58477974	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	1.881000	0.39638	0.700000	0.31782	0.591000	0.81541	CGG		PASS	0.512	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353541.1		Missense_Mutation	21	47	21	47	---	---	---	---
FRMD4B	23150	broad.mit.edu	37	3	69230202	69230202	+	Missense_Mutation	SNP	C	C	A	rs533947293		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:69230202C>A	ENST00000398540.3	-	21	2782	c.2699G>T	c.(2698-2700)cGt>cTt	p.R900L	FRMD4B_ENST00000542259.1_Missense_Mutation_p.R846L|FRMD4B_ENST00000478263.1_Missense_Mutation_p.R552L	NM_015123.1	NP_055938	Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	900					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|ruffle (GO:0001726)		p.R900L(1)|p.R846L(1)		NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		GTACCAGCCACGCAAGTGCTC	0.572																																						uc003dnv.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|central_nervous_system(1)	4						c.(2698-2700)CGT>CTT		FERM domain containing 4B							81.0	78.0	79.0					3																	69230202		2017	4189	6206	SO:0001583	missense	23150					cytoplasm|cytoskeleton	binding	g.chr3:69230202C>A	AL832231	CCDS46863.1	3p14.2	2006-04-12			ENSG00000114541	ENSG00000114541			24886	protein-coding gene	gene with protein product						10231032, 11445584	Standard	XM_005264720		Approved	KIAA1013, GRSP1	uc003dnv.2	Q9Y2L6	OTTHUMG00000158772	ENST00000398540.3:c.2699G>T	3.37:g.69230202C>A	ENSP00000381549:p.Arg900Leu					FRMD4B_uc003dnw.2_RNA|FRMD4B_uc003dnu.2_Missense_Mutation_p.R552L|FRMD4B_uc011bga.1_Missense_Mutation_p.R744L	p.R900L	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)	21	2989	-		Lung NSC(201;0.0138)|Prostate(884;0.11)	900					Q8TAI3	Missense_Mutation	SNP	ENST00000398540.3	37	c.2699G>T	CCDS46863.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016023	0.75161	.	.	ENSG00000114541	ENST00000398540;ENST00000542259;ENST00000478263	D;D	0.90676	-2.71;-2.69	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.94775	0.8313	M	0.68593	2.085	0.46678	D	0.999158	D;D	0.76494	0.995;0.999	P;D	0.67900	0.891;0.954	D	0.94791	0.7962	10	0.87932	D	0	-10.6667	19.8555	0.96756	0.0:1.0:0.0:0.0	.	744;900	B4DHD5;Q9Y2L6	.;FRM4B_HUMAN	L	900;846;552	ENSP00000381549:R900L;ENSP00000437658:R846L	ENSP00000381549:R900L	R	-	2	0	FRMD4B	69312892	1.000000	0.71417	1.000000	0.80357	0.754000	0.42855	4.642000	0.61383	2.697000	0.92050	0.591000	0.81541	CGT		PASS	0.572	FRMD4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352111.1			9	33	9	33	---	---	---	---
WDR5B	54554	broad.mit.edu	37	3	122134320	122134320	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:122134320G>A	ENST00000330689.4	-	1	562	c.56C>T	c.(55-57)gCc>gTc	p.A19V	RP11-299J3.8_ENST00000608015.1_RNA|RP11-299J3.8_ENST00000608346.1_RNA|RP11-299J3.8_ENST00000609469.1_RNA|RP11-299J3.8_ENST00000608756.1_RNA|RP11-299J3.8_ENST00000608465.1_RNA	NM_019069.3	NP_061942.2	Q86VZ2	WDR5B_HUMAN	WD repeat domain 5B	19								p.A19V(1)		kidney(2)|large_intestine(4)|lung(2)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.0704)		GCTCTGATTGGCCGATGAGGA	0.498																																						uc003efa.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(55-57)GCC>GTC		WD repeat domain 5B							134.0	131.0	132.0					3																	122134320		2203	4300	6503	SO:0001583	missense	54554							g.chr3:122134320G>A	AK002149	CCDS3012.1	3q21.1	2013-01-09			ENSG00000196981	ENSG00000196981		"""WD repeat domain containing"""	17826	protein-coding gene	gene with protein product						10369878	Standard	NM_019069		Approved	FLJ11287	uc003efa.1	Q86VZ2	OTTHUMG00000159489	ENST00000330689.4:c.56C>T	3.37:g.122134320G>A	ENSP00000330381:p.Ala19Val						p.A19V	NM_019069	NP_061942	Q86VZ2	WDR5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0704)	1	563	-			19					B2RCM9|Q9NUL4	Missense_Mutation	SNP	ENST00000330689.4	37	c.56C>T	CCDS3012.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.299878	0.40694	.	.	ENSG00000196981	ENST00000330689	T	0.51071	0.72	4.78	2.9	0.33743	WD40 repeat-like-containing domain (1);	0.263962	0.43579	D	0.000559	T	0.22551	0.0544	N	0.08118	0	0.19300	N	0.999977	B	0.20887	0.049	B	0.09377	0.004	T	0.17684	-1.0361	10	0.12766	T	0.61	.	9.4164	0.38523	0.0:0.1573:0.6797:0.1631	.	19	Q86VZ2	WDR5B_HUMAN	V	19	ENSP00000330381:A19V	ENSP00000330381:A19V	A	-	2	0	WDR5B	123617010	1.000000	0.71417	0.009000	0.14445	0.015000	0.08874	4.021000	0.57196	0.676000	0.31285	-0.302000	0.09304	GCC		PASS	0.498	WDR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355753.1	NM_019069		35	95	35	95	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130159471	130159471	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:130159471G>T	ENST00000432398.2	+	35	6783	c.6289G>T	c.(6289-6291)Gta>Tta	p.V2097L	COL6A5_ENST00000265379.6_Missense_Mutation_p.V2097L	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2097	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.V2097L(1)|p.V136L(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AAAAGAATTTGTAAAAATGAT	0.408																																						uc010htj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(6289-6291)GTA>TTA		collagen, type XXIX, alpha 1							96.0	92.0	93.0					3																	130159471		1860	4095	5955	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130159471G>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.6289G>T	3.37:g.130159471G>T	ENSP00000390895:p.Val2097Leu					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.V136L	p.V2097L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			35	6783	+			2097			VWFA 9.|Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6289G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.359|1.359	-0.589347|-0.589347	0.03799|0.03799	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000512836|ENST00000432398;ENST00000265379;ENST00000373157	.|T;T;T	.|0.13196	.|2.61;2.61;2.61	5.76|5.76	-2.22|-2.22	0.06952|0.06952	.|von Willebrand factor, type A (3);	.|0.737211	.|0.11040	.|N	.|0.606257	T|T	0.02888|0.02888	0.0086|0.0086	N|N	0.01576|0.01576	-0.805|-0.805	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.002;0.001	.|B;B	.|0.10450	.|0.005;0.001	T|T	0.38714|0.38714	-0.9648|-0.9648	5|10	.|0.02654	.|T	.|1	.|.	2.8415|2.8415	0.05531|0.05531	0.0873:0.2128:0.3052:0.3947|0.0873:0.2128:0.3052:0.3947	.|.	.|2097;2097	.|A8TX70;A8TX70-2	.|CO6A5_HUMAN;.	F|L	348|2097;2097;40	.|ENSP00000390895:V2097L;ENSP00000265379:V2097L;ENSP00000362250:V40L	.|ENSP00000265379:V2097L	C|V	+|+	2|1	0|0	COL6A5|COL6A5	131642161|131642161	0.007000|0.007000	0.16637|0.16637	0.000000|0.000000	0.03702|0.03702	0.015000|0.015000	0.08874|0.08874	0.372000|0.372000	0.20467|0.20467	-0.660000|-0.660000	0.05352|0.05352	-0.274000|-0.274000	0.10170|0.10170	TGT|GTA		PASS	0.408	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		7	40	7	40	---	---	---	---
ZBTB38	253461	broad.mit.edu	37	3	141161660	141161660	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:141161660G>A	ENST00000514251.1	+	4	709	c.430G>A	c.(430-432)Gtt>Att	p.V144I	ZBTB38_ENST00000321464.5_Missense_Mutation_p.V145I|ZBTB38_ENST00000441582.2_Missense_Mutation_p.V144I					zinc finger and BTB domain containing 38									p.V144I(1)		breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAAGGGAGTGGTTAAAGAAGA	0.388																																						uc003etw.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(430-432)GTT>ATT		zinc finger and BTB domain containing 38							63.0	59.0	60.0					3																	141161660		1843	4087	5930	SO:0001583	missense	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141161660G>A	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.430G>A	3.37:g.141161660G>A	ENSP00000426387:p.Val144Ile					ZBTB38_uc010hun.2_Missense_Mutation_p.V141I|ZBTB38_uc010huo.2_Missense_Mutation_p.V144I|ZBTB38_uc003ety.2_Missense_Mutation_p.V144I|ZBTB38_uc010hup.2_Missense_Mutation_p.V145I	p.V144I	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN			8	1412	+			144						Missense_Mutation	SNP	ENST00000514251.1	37	c.430G>A	CCDS43157.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921419	0.52653	.	.	ENSG00000177311	ENST00000509842;ENST00000509883;ENST00000514251;ENST00000510338;ENST00000441582;ENST00000321464;ENST00000510726	T;T;T;T;T;T;T	0.79033	-1.17;3.47;3.0;-1.23;3.0;3.01;-1.09	5.27	4.38	0.52667	.	0.465978	0.19445	N	0.114089	T	0.65502	0.2697	L	0.29908	0.895	0.19300	N	0.99997	P;P	0.42456	0.78;0.78	B;B	0.31946	0.138;0.138	T	0.60944	-0.7162	10	0.62326	D	0.03	-5.0103	16.0909	0.81090	0.0:0.1342:0.8657:0.0	.	145;144	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	I	144;144;144;144;144;145;144	ENSP00000426931:V144I;ENSP00000424254:V144I;ENSP00000426387:V144I;ENSP00000425705:V144I;ENSP00000406955:V144I;ENSP00000372635:V145I;ENSP00000422081:V144I	ENSP00000372635:V145I	V	+	1	0	ZBTB38	142644350	1.000000	0.71417	0.230000	0.23976	0.975000	0.68041	5.008000	0.63991	1.310000	0.45006	0.591000	0.81541	GTT		PASS	0.388	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			12	54	12	54	---	---	---	---
GRK7	131890	broad.mit.edu	37	3	141526658	141526658	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:141526658C>G	ENST00000264952.2	+	3	1359	c.1222C>G	c.(1222-1224)Ctg>Gtg	p.L408V		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	408	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)	p.L408V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						GCAAAGAACTCTGCAAGACGA	0.428																																						uc011bnd.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(1222-1224)CTG>GTG		G-protein-coupled receptor kinase 7 precursor							109.0	99.0	103.0					3																	141526658		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141526658C>G		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1222C>G	3.37:g.141526658C>G	ENSP00000264952:p.Leu408Val						p.L408V	NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN			3	1306	+			408			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1222C>G	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264594	0.40095	.	.	ENSG00000114124	ENST00000264952	T	0.68624	-0.34	4.95	2.76	0.32466	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.076806	0.52532	N	0.000068	T	0.58235	0.2108	L	0.48218	1.51	0.49582	D	0.999801	P	0.45715	0.865	P	0.45428	0.48	T	0.58702	-0.7590	10	0.66056	D	0.02	-11.8645	4.5024	0.11870	0.0:0.5491:0.2011:0.2498	.	408	Q8WTQ7	GRK7_HUMAN	V	408	ENSP00000264952:L408V	ENSP00000264952:L408V	L	+	1	2	GRK7	143009348	0.961000	0.32948	0.976000	0.42696	0.985000	0.73830	1.891000	0.39738	1.019000	0.39547	0.650000	0.86243	CTG		PASS	0.428	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		3	49	3	49	---	---	---	---
P2RY14	9934	broad.mit.edu	37	3	150931162	150931162	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:150931162T>C	ENST00000309170.3	-	3	1255	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E	P2RY14_ENST00000424796.2_Missense_Mutation_p.K315E|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	315					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)	p.K315E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTCTGAGCTTTTAATGGAATG	0.373																																						uc003eyr.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(1)|lung(1)	4						c.(943-945)AAA>GAA		P2Y14 receptor							149.0	148.0	149.0					3																	150931162		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931162T>C	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.943A>G	3.37:g.150931162T>C	ENSP00000308361:p.Lys315Glu					MED12L_uc011bnz.1_Intron|MED12L_uc003eyp.2_Intron|P2RY14_uc003eys.1_Missense_Mutation_p.K315E	p.K315E	NM_001081455	NP_001074924	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	1421	-			315			Cytoplasmic (Potential).		Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.943A>G	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	T	11.67	1.707496	0.30322	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.68624	-0.34;-0.34	5.36	2.92	0.33932	.	0.582844	0.16766	N	0.200409	T	0.36991	0.0987	N	0.08118	0	0.09310	N	1	P	0.37914	0.611	B	0.27500	0.08	T	0.12477	-1.0546	10	0.23302	T	0.38	-5.267	8.0218	0.30415	0.0:0.0708:0.1369:0.7923	.	315	Q15391	P2Y14_HUMAN	E	315	ENSP00000308361:K315E;ENSP00000408733:K315E	ENSP00000308361:K315E	K	-	1	0	P2RY14	152413852	0.019000	0.18553	0.000000	0.03702	0.635000	0.38103	1.855000	0.39378	0.334000	0.23590	0.528000	0.53228	AAA		PASS	0.373	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		17	125	17	125	---	---	---	---
KNG1	3827	broad.mit.edu	37	3	186440248	186440248	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:186440248C>T	ENST00000265023.4	+	3	541	c.329C>T	c.(328-330)aCc>aTc	p.T110I	KNG1_ENST00000287611.2_Missense_Mutation_p.T110I|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Missense_Mutation_p.T110I	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	110	Cystatin kininogen-type 1. {ECO:0000255|PROSITE-ProRule:PRU00979}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|inflammatory response (GO:0006954)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|smooth muscle contraction (GO:0006939)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.T110I(2)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)		TGCACGGCAACCGTGGGGAAG	0.478																																						uc011bsa.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(328-330)ACC>ATC		kininogen 1 isoform 1	Ouabain(DB01092)						99.0	89.0	92.0					3																	186440248		2203	4300	6503	SO:0001583	missense	3827				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	g.chr3:186440248C>T		CCDS3281.1, CCDS43183.1, CCDS54695.1	3q27.3	2014-05-15	2004-05-21	2004-05-26	ENSG00000113889	ENSG00000113889		"""Endogenous ligands"""	6383	protein-coding gene	gene with protein product	"""alpha-2-thiol proteinase inhibitor"", ""bradykinin"""	612358	"""kininogen"""	KNG, BDK		1733668	Standard	NM_000893		Approved	BK	uc011bsa.2	P01042	OTTHUMG00000150348	ENST00000265023.4:c.329C>T	3.37:g.186440248C>T	ENSP00000265023:p.Thr110Ile					KNG1_uc003fqr.2_Missense_Mutation_p.T110I	p.T110I	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	3	541	+	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		110			Cystatin 1.		A8K474|B2RCR2|C9JEX1|P01043|Q53EQ0|Q6PAU9|Q7M4P1	Missense_Mutation	SNP	ENST00000265023.4	37	c.329C>T	CCDS43183.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987789	0.35036	.	.	ENSG00000113889	ENST00000287611;ENST00000265023;ENST00000447445;ENST00000432028	T;T;T	0.28666	1.6;1.6;1.6	4.67	3.79	0.43588	Proteinase inhibitor I25, cystatin (2);	0.227950	0.31797	N	0.007059	T	0.31389	0.0795	M	0.68952	2.095	0.09310	N	1	B;B	0.25048	0.117;0.095	B;B	0.28011	0.085;0.064	T	0.20075	-1.0286	10	0.37606	T	0.19	-7.4908	9.5965	0.39578	0.0:0.8994:0.0:0.1006	.	110;110	P01042;P01042-2	KNG1_HUMAN;.	I	110;110;110;98	ENSP00000287611:T110I;ENSP00000265023:T110I;ENSP00000396025:T110I	ENSP00000265023:T110I	T	+	2	0	KNG1	187922942	0.001000	0.12720	0.016000	0.15963	0.007000	0.05969	0.131000	0.15870	1.271000	0.44313	0.561000	0.74099	ACC		PASS	0.478	KNG1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317738.1	NM_001102416		12	32	12	32	---	---	---	---
RTP4	64108	broad.mit.edu	37	3	187086299	187086299	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:187086299A>T	ENST00000259030.2	+	1	180	c.70A>T	c.(70-72)Aca>Tca	p.T24S		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	24					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|protein targeting to membrane (GO:0006612)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.T24S(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		ACCCCGGGCCACATGGACGCT	0.493																																						uc003frm.2																			1	Substitution - Missense(1)		lung(1)		0						c.(70-72)ACA>TCA		28kD interferon responsive protein							82.0	81.0	81.0					3																	187086299		2203	4300	6503	SO:0001583	missense	64108				detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding	g.chr3:187086299A>T	BC013161	CCDS33910.1	3q27.3	2014-02-20	2006-11-21		ENSG00000136514	ENSG00000136514		"""Receptor transporter proteins"""	23992	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 4"""	609350	"""receptor transporter protein 4"""			16271481, 15550249, 16720576	Standard	NM_022147		Approved	IFRG28, Z3CXXC4	uc003frm.3	Q96DX8	OTTHUMG00000156459	ENST00000259030.2:c.70A>T	3.37:g.187086299A>T	ENSP00000259030:p.Thr24Ser						p.T24S	NM_022147	NP_071430	Q96DX8	RTP4_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	1	132	+	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		24			Cytoplasmic (Potential).		Q9H4F3	Missense_Mutation	SNP	ENST00000259030.2	37	c.70A>T	CCDS33910.1	.	.	.	.	.	.	.	.	.	.	A	2.037	-0.420978	0.04734	.	.	ENSG00000136514	ENST00000259030	T	0.16597	2.33	4.07	0.0261	0.14148	.	1.036540	0.07588	N	0.921484	T	0.08447	0.0210	N	0.14661	0.345	0.09310	N	1	B	0.20459	0.045	B	0.21546	0.035	T	0.42799	-0.9430	10	0.10636	T	0.68	-1.1985	5.0525	0.14516	0.4444:0.3746:0.0:0.181	.	24	Q96DX8	RTP4_HUMAN	S	24	ENSP00000259030:T24S	ENSP00000259030:T24S	T	+	1	0	RTP4	188568993	0.002000	0.14202	0.000000	0.03702	0.003000	0.03518	1.619000	0.36965	0.008000	0.14787	-0.313000	0.08912	ACA		PASS	0.493	RTP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344260.1	NM_022147		21	112	21	112	---	---	---	---
NRROS	375387	broad.mit.edu	37	3	196381479	196381479	+	Silent	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:196381479C>T	ENST00000328557.4	+	2	272	c.69C>T	c.(67-69)agC>agT	p.S23S		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	23					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S23S(1)									GGAACAGAAGCGGAACAGCCA	0.577																																						uc003fwv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(67-69)AGC>AGT		leucine rich repeat containing 33 precursor							119.0	102.0	108.0					3																	196381479		2203	4300	6503	SO:0001819	synonymous_variant	375387					integral to membrane		g.chr3:196381479C>T	AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.69C>T	3.37:g.196381479C>T							p.S23S	NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)	2	173	+	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		23			Extracellular (Potential).			Silent	SNP	ENST00000328557.4	37	c.69C>T	CCDS3319.1																																																																																				PASS	0.577	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340676.1	NM_198565		10	105	10	105	---	---	---	---
KIAA0226	9711	broad.mit.edu	37	3	197410238	197410238	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr3:197410238C>A	ENST00000296343.5	-	13	1919	c.1920G>T	c.(1918-1920)atG>atT	p.M640I	KIAA0226_ENST00000389665.5_Missense_Mutation_p.M665I|KIAA0226_ENST00000273582.5_Missense_Mutation_p.M595I	NM_014687.1	NP_055502.1	Q92622	RUBIC_HUMAN	KIAA0226	640					autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)|negative regulation of autophagy (GO:0010507)|negative regulation of endocytosis (GO:0045806)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)		p.M640I(1)|p.M595I(1)		NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CTGGAAGCTGCATCCCCTCAA	0.617																																					Esophageal Squamous(3;167 355 3763 15924)	uc003fyc.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1918-1920)ATG>ATT		hypothetical protein LOC9711 isoform 2.							55.0	62.0	60.0					3																	197410238		1998	4165	6163	SO:0001583	missense	9711				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding	g.chr3:197410238C>A	D86979	CCDS43195.1, CCDS46987.1	3q29	2011-08-09			ENSG00000145016	ENSG00000145016			28991	protein-coding gene	gene with protein product	"""RUN domain and cysteine-rich domain containing, Beclin 1-interacting protein"""	613516				9039502, 19270693, 20826435	Standard	XM_005269374		Approved	rubicon, rundataxin	uc003fyc.2	Q92622	OTTHUMG00000155452	ENST00000296343.5:c.1920G>T	3.37:g.197410238C>A	ENSP00000296343:p.Met640Ile					KIAA0226_uc003fyd.3_Missense_Mutation_p.M595I|KIAA0226_uc003fye.1_Missense_Mutation_p.M372I	p.M640I	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)	13	2103	-	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		640					Q96CK5	Missense_Mutation	SNP	ENST00000296343.5	37	c.1920G>T	CCDS43195.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	33|33|33	5.279306|5.279306|5.279306	0.95489|0.95489|0.95489	.|.|.	.|.|.	ENSG00000145016|ENSG00000145016|ENSG00000145016	ENST00000413360|ENST00000415452|ENST00000273582;ENST00000296343;ENST00000389665	.|.|T;T;T	.|.|0.48201	.|.|0.82;0.82;0.82	5.47|5.47|5.47	5.47|5.47|5.47	0.80525|0.80525|0.80525	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.66086|0.66086|0.66086	0.2754|0.2754|0.2754	L|L|L	0.54323|0.54323|0.54323	1.7|1.7|1.7	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|D;D;D	.|.|0.69078	.|.|0.997;0.978;0.99	.|.|D;P;P	.|.|0.79784	.|.|0.993;0.824;0.852	T|T|T	0.65249|0.65249|0.65249	-0.6214|-0.6214|-0.6214	5|5|10	.|.|0.51188	.|.|T	.|.|0.08	.|.|.	19.3188|19.3188|19.3188	0.94229|0.94229|0.94229	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|665;595;640	.|.|Q92622-3;Q92622-2;Q92622	.|.|.;.;RUBIC_HUMAN	S|F|I	602|424|595;640;665	.|.|ENSP00000273582:M595I;ENSP00000296343:M640I;ENSP00000374316:M665I	.|.|ENSP00000273582:M595I	A|C|M	-|-|-	1|2|3	0|0|0	KIAA0226|KIAA0226|KIAA0226	198894635|198894635|198894635	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	7.783000|7.783000|7.783000	0.85696|0.85696|0.85696	2.585000|2.585000|2.585000	0.87301|0.87301|0.87301	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GCA|TGC|ATG		PASS	0.617	KIAA0226-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340184.1	XM_032901		17	55	17	55	---	---	---	---
GC	2638	broad.mit.edu	37	4	72634119	72634120	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr4:72634119_72634120TG>GT	ENST00000273951.8	-	3	502_503	c.159_160CA>AC	c.(157-162)ccCAgt>ccACgt	p.S54R	GC_ENST00000513476.1_Missense_Mutation_p.S54R|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.S73R	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	54	Albumin 1. {ECO:0000255|PROSITE- ProRule:PRU00769}.				small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin transport (GO:0051180)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	actin binding (GO:0003779)|calcidiol binding (GO:1902118)|vitamin D binding (GO:0005499)|vitamin transporter activity (GO:0051183)	p.S73R(2)|p.S54R(2)|p.P53P(1)|p.P72P(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Alfacalcidol(DB01436)|Cholecalciferol(DB00169)	AACGTGCCACTGGGAAATTTTC	0.465																																						uc003hge.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(160-162)AGT>CGT|c.(157-159)CCC>CCA		vitamin D-binding protein precursor	Cholecalciferol(DB00169)																																			SO:0001583	missense	2638				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity	g.chr4:72634119T>G|g.chr4:72634120G>T	L10641	CCDS3550.1, CCDS56332.1	4q12-q13	2008-08-29			ENSG00000145321	ENSG00000145321			4187	protein-coding gene	gene with protein product		139200				558959	Standard	NM_000583		Approved	DBP, VDBP, hDBP	uc010iif.3	P02774	OTTHUMG00000129915	ENST00000273951.8:c.159_160delinsGT	4.37:g.72634119_72634120delinsGT	ENSP00000273951:p.Ser54Arg					GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Missense_Mutation_p.S54R|GC_uc010iif.2_Missense_Mutation_p.S73R|GC_uc003hgd.2_5'UTR|GC_uc010iie.2_Silent_p.P53P|GC_uc010iif.2_Silent_p.P72P	p.S54R|p.P53P	NM_000583	NP_000574	P02774	VTDB_HUMAN	Lung(101;0.148)		3	313|312	-		all_hematologic(202;0.107)	54|53			Albumin 1.		B4DPP2|D6RAK8|Q16309|Q16310|Q53F31|Q6GTG1	Missense_Mutation|Silent	SNP	ENST00000273951.8	37	c.160A>C|c.159C>A	CCDS3550.1																																																																																				PASS	0.465	GC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252167.2			4	34|35	4	34	---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	73013088	73013088	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr4:73013088G>C	ENST00000308744.6	+	4	1226	c.1128G>C	c.(1126-1128)aaG>aaC	p.K376N	NPFFR2_ENST00000358749.3_Missense_Mutation_p.K274N|NPFFR2_ENST00000395999.1_Missense_Mutation_p.K277N|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	376					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.K376N(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)			AGATCATTAAGATGCTCCTGA	0.502																																						uc003hgg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1126-1128)AAG>AAC		neuropeptide FF receptor 2 isoform 1							89.0	85.0	86.0					4																	73013088		2203	4300	6503	SO:0001583	missense	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013088G>C	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.1128G>C	4.37:g.73013088G>C	ENSP00000307822:p.Lys376Asn					NPFFR2_uc010iig.1_Missense_Mutation_p.K158N|NPFFR2_uc003hgi.2_Missense_Mutation_p.K277N|NPFFR2_uc003hgh.2_Missense_Mutation_p.K274N|NPFFR2_uc003hgj.2_RNA	p.K376N	NM_004885	NP_004876	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1226	+			376			Cytoplasmic (Potential).		Q96RV1|Q9NR49	Missense_Mutation	SNP	ENST00000308744.6	37	c.1128G>C	CCDS3551.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974217	0.34848	.	.	ENSG00000056291	ENST00000308744;ENST00000395999;ENST00000358749	T;T;T	0.45276	0.9;0.9;0.9	5.82	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	T	0.60077	0.2241	M	0.86268	2.805	0.80722	D	1	P;D	0.54601	0.799;0.967	P;P	0.58391	0.465;0.838	T	0.62248	-0.6894	10	0.59425	D	0.04	.	8.5402	0.33388	0.2969:0.0:0.7031:0.0	.	277;376	Q9Y5X5-3;Q9Y5X5	.;NPFF2_HUMAN	N	376;277;274	ENSP00000307822:K376N;ENSP00000379321:K277N;ENSP00000351599:K274N	ENSP00000307822:K376N	K	+	3	2	NPFFR2	73231952	0.997000	0.39634	1.000000	0.80357	0.087000	0.18053	0.413000	0.21148	0.800000	0.34041	0.591000	0.81541	AAG		PASS	0.502	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		23	64	23	64	---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89859339	89859339	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr4:89859339A>G	ENST00000264344.5	-	5	866	c.659T>C	c.(658-660)aTg>aCg	p.M220T	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Missense_Mutation_p.M11T|FAM13A_ENST00000509094.1_Missense_Mutation_p.M220T	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	220	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.M220T(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AATTTTAGCCATTATCTTGTT	0.378																																						uc003hse.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(658-660)ATG>ACG		family with sequence similarity 13, member A1							102.0	99.0	100.0					4																	89859339		2203	4300	6503	SO:0001583	missense	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89859339A>G	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.659T>C	4.37:g.89859339A>G	ENSP00000264344:p.Met220Thr					FAM13A_uc003hsf.1_Missense_Mutation_p.M11T|FAM13A_uc003hsh.1_Missense_Mutation_p.M34T	p.M220T	NM_014883	NP_055698	O94988	FA13A_HUMAN			5	867	-			220			Rho-GAP.		B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	ENST00000264344.5	37	c.659T>C	CCDS34029.1	.	.	.	.	.	.	.	.	.	.	A	13.33	2.204183	0.38905	.	.	ENSG00000138640	ENST00000264344;ENST00000511976;ENST00000509094	T;T;T	0.48522	1.0;0.81;1.0	4.03	2.86	0.33363	Rho GTPase-activating protein domain (3);Rho GTPase activation protein (1);	0.095005	0.64402	N	0.000001	T	0.33760	0.0874	L	0.32530	0.975	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.06405	0.002;0.001	T	0.12604	-1.0541	10	0.42905	T	0.14	.	8.9318	0.35675	0.9072:0.0:0.0928:0.0	.	11;220	E9PGM7;O94988	.;FA13A_HUMAN	T	220;11;220	ENSP00000264344:M220T;ENSP00000421914:M11T;ENSP00000426517:M220T	ENSP00000264344:M220T	M	-	2	0	FAM13A	90078362	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.504000	0.53347	0.907000	0.36646	0.528000	0.53228	ATG		PASS	0.378	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			23	57	23	57	---	---	---	---
ANK2	287	broad.mit.edu	37	4	114278337	114278337	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr4:114278337G>C	ENST00000357077.4	+	38	8616	c.8563G>C	c.(8563-8565)Gta>Cta	p.V2855L	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.V2822L	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2855					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|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 heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.V2855L(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCATTGTTTGGTATCTGAAGG	0.388																																						uc003ibe.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(8563-8565)GTA>CTA		ankyrin 2 isoform 1							99.0	99.0	99.0					4																	114278337		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114278337G>C	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8563G>C	4.37:g.114278337G>C	ENSP00000349588:p.Val2855Leu					ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.V157L|ANK2_uc011cgb.1_Missense_Mutation_p.V2870L	p.V2855L	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	8663	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	2822					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.8563G>C	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	6.822	0.520723	0.13005	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.67345	-0.24;-0.26	5.75	-3.05	0.05396	.	1.846090	0.02838	N	0.127600	T	0.48040	0.1478	N	0.19112	0.55	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.005	T	0.19031	-1.0318	9	.	.	.	.	6.0086	0.19562	0.4279:0.2281:0.344:0.0	.	2822;2855	Q01484;Q01484-4	ANK2_HUMAN;.	L	2855;2822	ENSP00000349588:V2855L;ENSP00000264366:V2822L	.	V	+	1	0	ANK2	114497786	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-0.046000	0.11983	-0.763000	0.04658	-0.145000	0.13849	GTA		PASS	0.388	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		27	63	27	63	---	---	---	---
GRIA2	2891	broad.mit.edu	37	4	158224787	158224787	+	Nonsense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr4:158224787G>T	ENST00000264426.9	+	3	592	c.313G>T	c.(313-315)Gga>Tga	p.G105*	GRIA2_ENST00000393815.2_Nonsense_Mutation_p.G58*|GRIA2_ENST00000507898.1_Nonsense_Mutation_p.G58*|GRIA2_ENST00000449365.1_Nonsense_Mutation_p.G58*|GRIA2_ENST00000504801.1_3'UTR|GRIA2_ENST00000296526.7_Nonsense_Mutation_p.G105*	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	105					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.G105*(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	ATCATTTTGCGGAACACTCCA	0.438																																						uc003ipm.3																			2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(3)|ovary(1)	4						c.(313-315)GGA>TGA		glutamate receptor, ionotropic, AMPA 2 isoform 2	L-Glutamic Acid(DB00142)						182.0	169.0	174.0					4																	158224787		2203	4300	6503	SO:0001587	stop_gained	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158224787G>T		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.313G>T	4.37:g.158224787G>T	ENSP00000264426:p.Gly105*					GRIA2_uc011cit.1_Nonsense_Mutation_p.G58*|GRIA2_uc003ipl.3_Nonsense_Mutation_p.G105*|GRIA2_uc003ipk.3_Nonsense_Mutation_p.G58*|GRIA2_uc010iqh.1_RNA	p.G105*	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	3	772	+	all_hematologic(180;0.24)	Renal(120;0.0458)	105			Extracellular (Potential).		A8MT92|I6L997|Q96FP6	Nonsense_Mutation	SNP	ENST00000264426.9	37	c.313G>T	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917746	0.73098	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000509417;ENST00000296526;ENST00000264426;ENST00000505888;ENST00000449365	.	.	.	5.8	5.8	0.92144	.	0.049698	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.0536	0.97638	0.0:0.0:1.0:0.0	.	.	.	.	X	58;58;105;105;105;58;58	.	ENSP00000264426:G105X	G	+	1	0	GRIA2	158444237	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.823000	0.99369	2.737000	0.93849	0.650000	0.86243	GGA		PASS	0.438	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			72	154	72	154	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169348231	169348231	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr4:169348231G>C	ENST00000511577.1	-	14	2167	c.1920C>G	c.(1918-1920)tgC>tgG	p.C640W	DDX60L_ENST00000505890.1_Missense_Mutation_p.C640W|DDX60L_ENST00000260184.7_Missense_Mutation_p.C640W			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	640							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.C640W(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTCACCTCGGCAATGTTTTT	0.333																																						uc003irq.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1918-1920)TGC>TGG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							60.0	53.0	55.0					4																	169348231		1846	4092	5938	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169348231G>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.1920C>G	4.37:g.169348231G>C	ENSP00000422423:p.Cys640Trp					DDX60L_uc003irr.1_Missense_Mutation_p.C640W|DDX60L_uc003irs.1_Missense_Mutation_p.C367W	p.C640W	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	14	2141	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	640					Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.1920C>G		.	.	.	.	.	.	.	.	.	.	G	13.29	2.194023	0.38707	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.23348	1.93;1.93;1.91;2.56	3.1	2.24	0.28232	.	0.000000	0.42172	U	0.000760	T	0.44329	0.1288	M	0.69358	2.11	0.41511	D	0.988344	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.23476	-1.0187	10	0.46703	T	0.11	.	9.6839	0.40087	0.1094:0.0:0.8906:0.0	.	640;640;640	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	W	640;640;640;368	ENSP00000260184:C640W;ENSP00000422423:C640W;ENSP00000422202:C640W;ENSP00000421026:C368W	ENSP00000260184:C640W	C	-	3	2	DDX60L	169584806	0.374000	0.25081	0.281000	0.24762	0.179000	0.23085	1.180000	0.32005	0.388000	0.25054	0.313000	0.20887	TGC		PASS	0.333	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		10	13	10	13	---	---	---	---
NEIL3	55247	broad.mit.edu	37	4	178272639	178272639	+	Silent	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr4:178272639G>T	ENST00000264596.3	+	7	1093	c.975G>T	c.(973-975)gtG>gtT	p.V325V	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	325					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)	p.V325V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCTGTGTGGTGTGTACTTTAA	0.428								Base excision repair (BER), DNA glycosylases																														uc003iut.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)|central_nervous_system(1)	4						c.(973-975)GTG>GTT	BER_DNA_glycosylases	nei endonuclease VIII-like 3							236.0	214.0	221.0					4																	178272639		2203	4300	6503	SO:0001819	synonymous_variant	55247				base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding	g.chr4:178272639G>T	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.975G>T	4.37:g.178272639G>T						NEIL3_uc010irs.2_Intron	p.V325V	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)	7	1092	+		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)	325			RanBP2-type.		Q2PPJ3|Q8NG51|Q9NV95	Silent	SNP	ENST00000264596.3	37	c.975G>T	CCDS3828.1																																																																																				PASS	0.428	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361914.1	NM_018248		52	102	52	102	---	---	---	---
IL7R	3575	broad.mit.edu	37	5	35861032	35861032	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:35861032C>T	ENST00000303115.3	+	2	290	c.161C>T	c.(160-162)tCa>tTa	p.S54L	IL7R_ENST00000511982.1_Missense_Mutation_p.S54L|IL7R_ENST00000511031.1_3'UTR|IL7R_ENST00000506850.1_Missense_Mutation_p.S54L|IL7R_ENST00000343305.4_Missense_Mutation_p.S54L	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	54					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.S54L(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCGCAGCACTCACTGACCTGT	0.458			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																															uc003jjs.2				Dom	yes		5	5p13	146661		interleukin 7 receptor	yes		L					2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|skin(1)	5						c.(160-162)TCA>TTA		interleukin 7 receptor precursor							219.0	198.0	205.0					5																	35861032		2203	4300	6503	SO:0001583	missense	3575				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity	g.chr5:35861032C>T	M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.161C>T	5.37:g.35861032C>T	ENSP00000306157:p.Ser54Leu					IL7R_uc011coo.1_Missense_Mutation_p.S54L|IL7R_uc011cop.1_RNA	p.S54L	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)		2	250	+	all_lung(31;0.00015)		54			Extracellular (Potential).		B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	c.161C>T	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	9.051	0.992170	0.18966	.	.	ENSG00000168685	ENST00000508941;ENST00000303115;ENST00000343305;ENST00000506850;ENST00000511982	T;T;T;T;T	0.74106	-0.81;-0.81;-0.81;-0.81;-0.81	5.97	3.07	0.35406	.	0.914697	0.09162	N	0.840027	T	0.46908	0.1417	N	0.02142	-0.665	0.09310	N	1	B;B	0.24092	0.048;0.097	B;B	0.17722	0.006;0.019	T	0.35001	-0.9806	10	0.33940	T	0.23	5.7998	6.8218	0.23861	0.0:0.6707:0.0:0.3293	.	54;54	D6RGV2;P16871	.;IL7RA_HUMAN	L	54	ENSP00000426426:S54L;ENSP00000306157:S54L;ENSP00000345819:S54L;ENSP00000421207:S54L;ENSP00000425309:S54L	ENSP00000306157:S54L	S	+	2	0	IL7R	35896789	0.024000	0.19004	0.007000	0.13788	0.488000	0.33401	0.795000	0.26972	0.320000	0.23234	0.655000	0.94253	TCA		PASS	0.458	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2			35	178	35	178	---	---	---	---
SLC30A5	64924	broad.mit.edu	37	5	68423946	68423946	+	Missense_Mutation	SNP	G	G	C	rs375201134		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:68423946G>C	ENST00000396591.3	+	15	2724	c.2114G>C	c.(2113-2115)aGa>aCa	p.R705T	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	705					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)	p.R705T(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTAGAACAAAGAATAGTACAG	0.353																																						uc003jvh.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2113-2115)AGA>ACA		solute carrier family 30 (zinc transporter),							120.0	127.0	124.0					5																	68423946		2203	4300	6503	SO:0001583	missense	64924				cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity	g.chr5:68423946G>C	AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.2114G>C	5.37:g.68423946G>C	ENSP00000379836:p.Arg705Thr					SLC30A5_uc003jvj.2_RNA|SLC30A5_uc003jvk.2_Intron	p.R705T	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	15	2315	+		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)	705			Cytoplasmic (Potential).		B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	ENST00000396591.3	37	c.2114G>C	CCDS3996.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794304	0.50102	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.64438	-0.1	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	L	0.38838	1.175	0.80722	D	1	B	0.18166	0.026	B	0.28385	0.089	T	0.50154	-0.8861	10	0.27785	T	0.31	.	18.4567	0.90722	0.0:0.0:1.0:0.0	.	705	Q8TAD4	ZNT5_HUMAN	T	705;300	ENSP00000379836:R705T	ENSP00000379836:R705T	R	+	2	0	SLC30A5	68459702	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	9.411000	0.97342	2.689000	0.91719	0.491000	0.48974	AGA		PASS	0.353	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254017.2			29	74	29	74	---	---	---	---
RGMB	285704	broad.mit.edu	37	5	98129295	98129295	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:98129295T>A	ENST00000513185.1	+	3	1588	c.1152T>A	c.(1150-1152)ttT>ttA	p.F384L	RGMB_ENST00000308234.7_Missense_Mutation_p.F425L			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	384					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)	p.F425L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		ATGCCAACTTTACTGCCGCAG	0.562																																						uc003knc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1273-1275)TTT>TTA		RGM domain family, member B							88.0	88.0	88.0					5																	98129295		2098	4223	6321	SO:0001583	missense	285704				axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding	g.chr5:98129295T>A	AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.1152T>A	5.37:g.98129295T>A	ENSP00000423256:p.Phe384Leu						p.F425L	NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN		COAD - Colon adenocarcinoma(37;0.0587)	5	1677	+		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)	384					D6R9A0|Q8NC92	Missense_Mutation	SNP	ENST00000513185.1	37	c.1275T>A		.	.	.	.	.	.	.	.	.	.	T	19.78	3.890905	0.72524	.	.	ENSG00000174136	ENST00000308234;ENST00000513185	D;D	0.86230	-2.09;-2.09	5.62	-2.08	0.07254	Repulsive guidance molecule, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90926	0.7148	M	0.76727	2.345	0.53005	D	0.99996	D	0.89917	1.0	D	0.87578	0.998	D	0.88136	0.2841	10	0.46703	T	0.11	-17.4553	11.5726	0.50843	0.0:0.4752:0.0:0.5248	.	384	Q6NW40	RGMB_HUMAN	L	425;384	ENSP00000308219:F425L;ENSP00000423256:F384L	ENSP00000308219:F425L	F	+	3	2	RGMB	98157195	1.000000	0.71417	0.761000	0.31378	0.922000	0.55478	1.257000	0.32932	-0.486000	0.06744	-0.256000	0.11100	TTT		PASS	0.562	RGMB-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000370308.1	NM_173670		24	27	24	27	---	---	---	---
YTHDC2	64848	broad.mit.edu	37	5	112878128	112878128	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:112878128G>T	ENST00000161863.4	+	10	1636	c.1423G>T	c.(1423-1425)Gat>Tat	p.D475Y	YTHDC2_ENST00000515883.1_Missense_Mutation_p.D475Y	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	475					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)	p.D475Y(1)		NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TTGCCTTTCTGATATATGGCT	0.274																																						uc003kqn.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1423-1425)GAT>TAT		YTH domain containing 2							172.0	171.0	171.0					5																	112878128		2202	4299	6501	SO:0001583	missense	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112878128G>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.1423G>T	5.37:g.112878128G>T	ENSP00000161863:p.Asp475Tyr					YTHDC2_uc010jce.1_Missense_Mutation_p.D475Y|YTHDC2_uc010jcf.1_Missense_Mutation_p.D175Y	p.D475Y	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	10	1606	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	475					B2RP66	Missense_Mutation	SNP	ENST00000161863.4	37	c.1423G>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658592	0.67586	.	.	ENSG00000047188	ENST00000161863;ENST00000515883;ENST00000511372	T;T	0.07327	4.2;3.2	5.14	5.14	0.70334	.	0.144615	0.64402	D	0.000010	T	0.14830	0.0358	L	0.46157	1.445	0.45390	D	0.998374	D	0.60575	0.988	P	0.47981	0.563	T	0.00544	-1.1679	10	0.72032	D	0.01	.	18.9503	0.92638	0.0:0.0:1.0:0.0	.	475	Q9H6S0	YTDC2_HUMAN	Y	475;475;385	ENSP00000161863:D475Y;ENSP00000423101:D475Y	ENSP00000161863:D475Y	D	+	1	0	YTHDC2	112906027	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.596000	0.74113	2.559000	0.86315	0.650000	0.86243	GAT		PASS	0.274	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2	NM_022828		74	89	74	89	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115782854	115782854	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:115782854G>A	ENST00000343348.6	-	19	3335	c.2548C>T	c.(2548-2550)Ctg>Ttg	p.L850L	SEMA6A_ENST00000282394.6_Silent_p.L327L|SEMA6A_ENST00000503865.1_Silent_p.L229L|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.L850L|SEMA6A_ENST00000257414.8_Silent_p.L867L|CTB-118N6.3_ENST00000512128.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000513137.1_Silent_p.L277L|CTB-118N6.3_ENST00000508424.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	850					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)	p.L850L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TTATACTCCAGTGTGGCGGCC	0.592																																						uc010jck.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2548-2550)CTG>TTG		sema domain, transmembrane domain (TM), and							222.0	225.0	224.0					5																	115782854		2069	4209	6278	SO:0001819	synonymous_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115782854G>A	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.2548C>T	5.37:g.115782854G>A						SEMA6A_uc003krx.3_Silent_p.L867L|SEMA6A_uc011cwe.1_Silent_p.L229L|SEMA6A_uc003krv.3_Silent_p.L277L|SEMA6A_uc003krw.3_Silent_p.L327L|SEMA6A_uc010jcj.2_Silent_p.L394L	p.L850L	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	19	3257	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	850			Cytoplasmic (Potential).		Q9P2H9	Silent	SNP	ENST00000343348.6	37	c.2548C>T	CCDS47256.1																																																																																				PASS	0.592	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		16	324	16	324	---	---	---	---
PRR16	51334	broad.mit.edu	37	5	120021833	120021833	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:120021833C>T	ENST00000407149.2	+	2	553	c.344C>T	c.(343-345)aCg>aTg	p.T115M	PRR16_ENST00000446965.1_Missense_Mutation_p.T45M|PRR16_ENST00000379551.2_Missense_Mutation_p.T92M|PRR16_ENST00000505123.1_Missense_Mutation_p.T45M			Q569H4	LARGN_HUMAN	proline rich 16	115	Pro-rich.				positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)			p.T92M(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GCTATCCTCACGGTCCTGAGA	0.522																																						uc003ksq.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(343-345)ACG>ATG		proline rich 16							143.0	125.0	131.0					5																	120021833		2203	4300	6503	SO:0001583	missense	51334							g.chr5:120021833C>T	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.344C>T	5.37:g.120021833C>T	ENSP00000385118:p.Thr115Met					PRR16_uc003ksp.2_Missense_Mutation_p.T92M|PRR16_uc003ksr.2_Missense_Mutation_p.T45M	p.T115M	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)	2	507	+		all_cancers(142;0.0464)|Prostate(80;0.00446)	115			Pro-rich.		D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	37	c.344C>T		.	.	.	.	.	.	.	.	.	.	C	20.9	4.070552	0.76301	.	.	ENSG00000184838	ENST00000407149;ENST00000379551;ENST00000509923;ENST00000505123;ENST00000446965	T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	L	0.59436	1.845	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.63479	-0.6628	9	.	.	.	-2.7303	18.3984	0.90507	0.0:1.0:0.0:0.0	.	115;92	Q569H4;Q569H4-3	PRR16_HUMAN;.	M	115;92;45;45;45	ENSP00000385118:T115M;ENSP00000368869:T92M;ENSP00000421256:T45M;ENSP00000423446:T45M;ENSP00000405491:T45M	.	T	+	2	0	PRR16	120049732	1.000000	0.71417	0.958000	0.39756	0.880000	0.50808	7.393000	0.79851	2.640000	0.89533	0.549000	0.68633	ACG		PASS	0.522	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644		36	65	36	65	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140216019	140216019	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:140216019T>C	ENST00000525929.1	+	1	2051	c.2051T>C	c.(2050-2052)tTg>tCg	p.L684S	PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.L684S|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	684					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.L684S(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCATCGTTGGGCATTGCA	0.637																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(2050-2052)TTG>TCG		protocadherin alpha 7 isoform 1 precursor							100.0	90.0	94.0					5																	140216019		2203	4299	6502	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140216019T>C	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.2051T>C	5.37:g.140216019T>C	ENSP00000436426:p.Leu684Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc011dac.1_Missense_Mutation_p.L684S	p.L684S	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2051	+			684			Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.2051T>C	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	T	0.402	-0.917789	0.02396	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.53423	0.63;0.62	3.57	-2.66	0.06077	.	2.216730	0.03790	U	0.262778	T	0.12305	0.0299	N	0.00538	-1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.14172	-1.0482	10	0.09084	T	0.74	.	0.6533	0.00830	0.1703:0.3168:0.1683:0.3445	.	684;684	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	S	684	ENSP00000436426:L684S;ENSP00000367365:L684S	ENSP00000367365:L684S	L	+	2	0	PCDHA7	140196203	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-5.811000	0.00097	-0.350000	0.08262	-0.464000	0.05259	TTG		PASS	0.637	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		42	50	42	50	---	---	---	---
PCDHA9	9752	broad.mit.edu	37	5	140228176	140228176	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:140228176C>A	ENST00000532602.1	+	1	1129	c.96C>A	c.(94-96)caC>caA	p.H32Q	PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000378122.3_Missense_Mutation_p.H32Q|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	32	Cadherin 1. {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)	p.H32Q(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCAGCTCCACTACTCCGTCC	0.627																																					Melanoma(55;1800 1972 14909)	uc003lhu.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|ovary(2)|skin(1)	5						c.(94-96)CAC>CAA		protocadherin alpha 9 isoform 1 precursor							60.0	62.0	61.0					5																	140228176		2196	4270	6466	SO:0001583	missense	9752				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140228176C>A	AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.96C>A	5.37:g.140228176C>A	ENSP00000436042:p.His32Gln					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.H32Q	p.H32Q	NM_031857	NP_114063	Q9Y5H5	PCDA9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	820	+			32			Cadherin 1.|Extracellular (Potential).		O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	c.96C>A	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	C	10.09	1.255100	0.22965	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.26518	1.73;1.73	3.73	0.928	0.19443	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.22244	0.0536	L	0.52266	1.64	0.21184	N	0.999765	B;B	0.28055	0.199;0.007	B;B	0.31101	0.124;0.007	T	0.30592	-0.9973	9	0.87932	D	0	.	4.9205	0.13867	0.0:0.4227:0.1539:0.4234	.	32;32	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	Q	32	ENSP00000436042:H32Q;ENSP00000367362:H32Q	ENSP00000367362:H32Q	H	+	3	2	PCDHA9	140208360	0.000000	0.05858	0.836000	0.33094	0.389000	0.30415	-0.301000	0.08232	0.354000	0.24105	0.591000	0.81541	CAC		PASS	0.627	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857		45	70	45	70	---	---	---	---
PCDHB12	56124	broad.mit.edu	37	5	140590115	140590115	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:140590115C>A	ENST00000239450.2	+	1	1825	c.1636C>A	c.(1636-1638)Ctg>Atg	p.L546M	PCDHB12_ENST00000541609.1_Missense_Mutation_p.L209M	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	546	Cadherin 5. {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.L546M(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGCGAGGCGCTGGTGCGCGT	0.697																																						uc003liz.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1636-1638)CTG>ATG		protocadherin beta 12 precursor							34.0	40.0	38.0					5																	140590115		2202	4299	6501	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590115C>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1636C>A	5.37:g.140590115C>A	ENSP00000239450:p.Leu546Met					PCDHB12_uc011dak.1_Missense_Mutation_p.L209M	p.L546M	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1825	+			546			Extracellular (Potential).|Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1636C>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176893	0.38413	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01998	4.51;4.51	3.41	1.34	0.21922	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.06325	0.0163	L	0.46614	1.455	0.09310	N	1	D	0.76494	0.999	D	0.76575	0.988	T	0.36696	-0.9737	9	0.48119	T	0.1	.	4.952	0.14019	0.3404:0.5475:0.0:0.1121	.	546	Q9Y5F1	PCDBC_HUMAN	M	209;546;166	ENSP00000440199:L209M;ENSP00000239450:L546M	ENSP00000239450:L546M	L	+	1	2	PCDHB12	140570299	0.000000	0.05858	0.584000	0.28653	0.993000	0.82548	-0.558000	0.05978	0.557000	0.29117	0.485000	0.47835	CTG		PASS	0.697	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		25	40	25	40	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140595204	140595204	+	Silent	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:140595204G>T	ENST00000341948.4	+	1	1696	c.1509G>T	c.(1507-1509)ctG>ctT	p.L503L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	503	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L503L(1)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACATCCCTGGTCTCCATCA	0.662																																						uc003lja.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(1507-1509)CTG>CTT		protocadherin beta 13 precursor							111.0	117.0	115.0					5																	140595204		2203	4300	6503	SO:0001819	synonymous_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140595204G>T	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1509G>T	5.37:g.140595204G>T							p.L503L	NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1696	+			503			Extracellular (Potential).|Cadherin 5.		A8K9V6	Silent	SNP	ENST00000341948.4	37	c.1509G>T	CCDS4255.1																																																																																				PASS	0.662	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		60	93	60	93	---	---	---	---
HAND1	9421	broad.mit.edu	37	5	153857226	153857226	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:153857226C>A	ENST00000231121.2	-	1	598	c.343G>T	c.(343-345)Gcg>Tcg	p.A115S		NM_004821.2	NP_004812.1	O96004	HAND1_HUMAN	heart and neural crest derivatives expressed 1	115	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|blastocyst development (GO:0001824)|cardiac left ventricle formation (GO:0003218)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cartilage morphogenesis (GO:0060536)|embryonic heart tube development (GO:0035050)|embryonic heart tube formation (GO:0003144)|heart development (GO:0007507)|heart looping (GO:0001947)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)|trophoblast giant cell differentiation (GO:0060707)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A115S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			CGCAACTCCGCGAATGCGCTG	0.642																																						uc003lvn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(343-345)GCG>TCG		basic helix-loop-helix transcription factor							133.0	110.0	118.0					5																	153857226		2203	4300	6503	SO:0001583	missense	9421				angiogenesis|cardiac left ventricle formation|cardiac right ventricle formation|cardiac septum morphogenesis|heart looping|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|trophectodermal cell differentiation|ventricular cardiac muscle tissue morphogenesis	cytoplasm|nucleolus|nucleoplasm	bHLH transcription factor binding|DNA binding|protein homodimerization activity|transcription coactivator activity	g.chr5:153857226C>A	AF061756	CCDS4327.1	5q33	2013-05-21			ENSG00000113196	ENSG00000113196		"""Basic helix-loop-helix proteins"""	4807	protein-coding gene	gene with protein product		602406				9337404, 9931445	Standard	NM_004821		Approved	eHand, Thing1, Hxt, bHLHa27	uc003lvn.3	O96004	OTTHUMG00000130193	ENST00000231121.2:c.343G>T	5.37:g.153857226C>A	ENSP00000231121:p.Ala115Ser						p.A115S	NM_004821	NP_004812	O96004	HAND1_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		1	599	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	115			Helix-loop-helix motif.			Missense_Mutation	SNP	ENST00000231121.2	37	c.343G>T	CCDS4327.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155127	0.78114	.	.	ENSG00000113196	ENST00000231121	D	0.97941	-4.62	5.11	5.11	0.69529	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	N	0.20530	0.585	0.58432	D	0.999995	P	0.46656	0.882	P	0.56434	0.798	D	0.94766	0.7940	10	0.15066	T	0.55	-16.2428	16.0319	0.80585	0.0:1.0:0.0:0.0	.	115	O96004	HAND1_HUMAN	S	115	ENSP00000231121:A115S	ENSP00000231121:A115S	A	-	1	0	HAND1	153837419	1.000000	0.71417	0.992000	0.48379	0.961000	0.63080	5.902000	0.69869	2.367000	0.80283	0.462000	0.41574	GCG		PASS	0.642	HAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252511.1	NM_004821		7	48	7	48	---	---	---	---
RMND5B	64777	broad.mit.edu	37	5	177570966	177570966	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:177570966G>A	ENST00000515098.1	+	8	902	c.551G>A	c.(550-552)cGc>cAc	p.R184H	RMND5B_ENST00000542098.1_Missense_Mutation_p.R171H|RMND5B_ENST00000313386.4_Missense_Mutation_p.R184H			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	184	CTLH. {ECO:0000255|PROSITE- ProRule:PRU00058}.							p.R184H(1)		endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAGGCAGCGCCTGCTGGAA	0.642																																						uc003mim.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(550-552)CGC>CAC		required for meiotic nuclear division 5 homolog							72.0	79.0	77.0					5																	177570966		2203	4300	6503	SO:0001583	missense	64777							g.chr5:177570966G>A	BC009911	CCDS4431.1, CCDS75382.1	5q35.3	2012-07-20			ENSG00000145916	ENSG00000145916			26181	protein-coding gene	gene with protein product	"""GID complex subunit 2 homolog B"""					12975309	Standard	NM_022762		Approved	FLJ22318, GID2, GID2B	uc003mim.3	Q96G75	OTTHUMG00000130897	ENST00000515098.1:c.551G>A	5.37:g.177570966G>A	ENSP00000420875:p.Arg184His					RMND5B_uc003min.2_Missense_Mutation_p.R184H|RMND5B_uc003mio.2_Missense_Mutation_p.R171H|RMND5B_uc003mip.2_Missense_Mutation_p.R184H|RMND5B_uc011dgf.1_Missense_Mutation_p.R225H|RMND5B_uc003miq.2_Missense_Mutation_p.R124H	p.R184H	NM_022762	NP_073599	Q96G75	RMD5B_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	731	+	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	184			CTLH.		Q1HE27|Q6UVY7|Q9H6F6	Missense_Mutation	SNP	ENST00000515098.1	37	c.551G>A	CCDS4431.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781962	0.70222	.	.	ENSG00000145916	ENST00000313386;ENST00000515098;ENST00000542098	.	.	.	4.41	4.41	0.53225	CTLH, C-terminal LisH motif (2);	0.120574	0.56097	D	0.000022	T	0.50854	0.1640	L	0.40543	1.245	0.51012	D	0.999901	D;D;P	0.63046	0.992;0.989;0.916	P;P;P	0.51487	0.602;0.467;0.671	T	0.52238	-0.8602	9	0.54805	T	0.06	-16.8379	9.7326	0.40370	0.0:0.0:0.7937:0.2063	.	171;171;184	B3KSG5;F5H6G4;Q96G75	.;.;RMD5B_HUMAN	H	184;184;171	.	ENSP00000320623:R184H	R	+	2	0	RMND5B	177503572	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.393000	0.52544	2.287000	0.76781	0.313000	0.20887	CGC		PASS	0.642	RMND5B-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373542.1	NM_022762		5	80	5	80	---	---	---	---
ZNF454	285676	broad.mit.edu	37	5	178392396	178392396	+	Missense_Mutation	SNP	A	A	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:178392396A>C	ENST00000320129.3	+	5	1294	c.991A>C	c.(991-993)Aat>Cat	p.N331H	ZNF454_ENST00000519564.1_Missense_Mutation_p.N331H	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	331					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.N331H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		CTATAAATGCAATGAATGTGG	0.398																																						uc003mjo.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(991-993)AAT>CAT		zinc finger protein 454							54.0	58.0	56.0					5																	178392396		2203	4300	6503	SO:0001583	missense	285676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178392396A>C	AK094763	CCDS4441.1	5q35.3	2013-01-08			ENSG00000178187	ENSG00000178187		"""Zinc fingers, C2H2-type"", ""-"""	21200	protein-coding gene	gene with protein product							Standard	NM_182594		Approved	FLJ37444	uc021yjc.1	Q8N9F8	OTTHUMG00000130891	ENST00000320129.3:c.991A>C	5.37:g.178392396A>C	ENSP00000326249:p.Asn331His					ZNF454_uc010jkz.1_Missense_Mutation_p.N331H	p.N331H	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)	5	1262	+	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	331			C2H2-type 6.		Q2M1P2|Q2M323	Missense_Mutation	SNP	ENST00000320129.3	37	c.991A>C	CCDS4441.1	.	.	.	.	.	.	.	.	.	.	A	2.970	-0.212665	0.06140	.	.	ENSG00000178187	ENST00000320129;ENST00000519564	T;T	0.07567	3.18;3.18	4.21	-3.09	0.05331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.899723	0.09283	N	0.823424	T	0.05593	0.0147	L	0.28504	0.86	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40553	-0.9557	10	0.45353	T	0.12	-6.4224	5.6722	0.17729	0.4217:0.3976:0.1807:0.0	.	331	Q8N9F8	ZN454_HUMAN	H	331	ENSP00000326249:N331H;ENSP00000430354:N331H	ENSP00000326249:N331H	N	+	1	0	ZNF454	178325002	0.000000	0.05858	0.057000	0.19452	0.044000	0.14063	-1.747000	0.01827	-0.303000	0.08856	0.528000	0.53228	AAT		PASS	0.398	ZNF454-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253476.2	XM_209718		17	27	17	27	---	---	---	---
BTNL3	10917	broad.mit.edu	37	5	180420135	180420135	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr5:180420135G>A	ENST00000342868.6	+	2	556	c.372G>A	c.(370-372)gaG>gaA	p.E124E		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	124						integral component of membrane (GO:0016021)		p.E124E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			ACGATGAGGAGGCCACCTGGG	0.483																																						uc003mmr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(370-372)GAG>GAA		butyrophilin-like 3 precursor							52.0	47.0	49.0					5																	180420135		1887	3772	5659	SO:0001819	synonymous_variant	10917				lipid metabolic process	integral to membrane		g.chr5:180420135G>A	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.372G>A	5.37:g.180420135G>A							p.E124E	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)		2	500	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	124			Extracellular (Potential).		Q496L7|Q9Y2C7	Silent	SNP	ENST00000342868.6	37	c.372G>A	CCDS47358.1																																																																																				PASS	0.483	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975		4	2	4	2	---	---	---	---
SERPINB9	5272	broad.mit.edu	37	6	2896288	2896288	+	Splice_Site	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:2896288G>A	ENST00000380698.4	-	3	394	c.305C>T	c.(304-306)tCa>tTa	p.S102L		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	102					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.S102L(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TCAACTTACTGAGAGGAACTG	0.418																																						uc003mug.2																			1	Substitution - Missense(1)		lung(1)		0						c.(304-306)TCA>TTA		serpin peptidase inhibitor, clade B, member 9							75.0	75.0	75.0					6																	2896288		2203	4300	6503	SO:0001630	splice_region_variant	5272				anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity	g.chr6:2896288G>A	L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.306+1C>T	6.37:g.2896288G>A						uc003mue.2_Intron	p.S102L	NM_004155	NP_004146	P50453	SPB9_HUMAN			3	426	-	Ovarian(93;0.0412)	all_hematologic(90;0.108)	102					B2RBW3|Q5TD03	Missense_Mutation	SNP	ENST00000380698.4	37	c.305C>T	CCDS4478.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.329444	0.24167	.	.	ENSG00000170542	ENST00000380698	D	0.83250	-1.7	4.21	4.21	0.49690	Serpin domain (3);	0.554792	0.18401	N	0.142369	T	0.72087	0.3417	M	0.70275	2.135	0.09310	N	1	B	0.12013	0.005	B	0.21151	0.033	T	0.68379	-0.5424	10	0.59425	D	0.04	.	11.0064	0.47637	0.0:0.0:0.8137:0.1863	.	102	P50453	SPB9_HUMAN	L	102	ENSP00000370074:S102L	ENSP00000370074:S102L	S	-	2	0	SERPINB9	2841287	0.000000	0.05858	0.254000	0.24359	0.457000	0.32468	0.451000	0.21779	2.342000	0.79632	0.655000	0.94253	TCA		PASS	0.418	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039656.1		Missense_Mutation	6	59	6	59	---	---	---	---
HIST1H4B	8366	broad.mit.edu	37	6	26027273	26027273	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:26027273C>A	ENST00000377364.3	-	1	207	c.208G>T	c.(208-210)Gcc>Tcc	p.A70S		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	70					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.A70S(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TAGGTCACGGCGTCCCGGATC	0.577											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003nfr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(208-210)GCC>TCC		histone cluster 1, H4b							107.0	90.0	96.0					6																	26027273		2203	4300	6503	SO:0001583	missense	8366				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26027273C>A	X67081	CCDS4572.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124529	ENSG00000278705		"""Histones / Replication-dependent"""	4789	protein-coding gene	gene with protein product		602829	"""H4 histone family, member I"", ""histone 1, H4b"""	H4FI		9119399, 12408966	Standard	NM_003544		Approved	H4/I	uc003nfr.3	P62805	OTTHUMG00000014417	ENST00000377364.3:c.208G>T	6.37:g.26027273C>A	ENSP00000366581:p.Ala70Ser		OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	783		p.A70S	NM_003544	NP_003535	P62805	H4_HUMAN			1	208	-			70					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000377364.3	37	c.208G>T	CCDS4572.1	.	.	.	.	.	.	.	.	.	.	c	17.78	3.472568	0.63737	.	.	ENSG00000124529	ENST00000377364	T	0.79845	-1.31	4.65	4.65	0.58169	.	0.000000	0.52532	U	0.000066	D	0.84288	0.5439	.	.	.	0.46631	D	0.99913	.	.	.	.	.	.	D	0.84219	0.0460	7	0.45353	T	0.12	.	17.4106	0.87484	0.0:1.0:0.0:0.0	.	.	.	.	S	70	ENSP00000366581:A70S	ENSP00000366581:A70S	A	-	1	0	HIST1H4B	26135252	1.000000	0.71417	0.998000	0.56505	0.041000	0.13682	7.393000	0.79851	2.506000	0.84524	0.563000	0.77884	GCC		PASS	0.577	HIST1H4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040079.2	NM_003544		9	63	9	63	---	---	---	---
HIST1H2BF	8343	broad.mit.edu	37	6	26200113	26200113	+	Missense_Mutation	SNP	G	G	C	rs546943590		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:26200113G>C	ENST00000359985.1	+	1	366	c.327G>C	c.(325-327)aaG>aaC	p.K109N	HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	109					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.K109N(1)|p.K109K(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				AGCTGGCTAAGCACGCCGTGT	0.587																																						uc003ngx.2																			2	Substitution - Missense(1)|Substitution - coding silent(1)		haematopoietic_and_lymphoid_tissue(1)|lung(1)		0						c.(325-327)AAG>AAC		histone cluster 1, H2bf							66.0	71.0	69.0					6																	26200113		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26200113G>C	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.327G>C	6.37:g.26200113G>C	ENSP00000353074:p.Lys109Asn					HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	p.K109N	NM_003522	NP_003513	P62807	H2B1C_HUMAN			1	327	+		all_hematologic(11;0.196)	109					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.327G>C	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.18	3.049106	0.55110	.	.	ENSG00000197846	ENST00000359985	T	0.46819	0.86	3.68	2.8	0.32819	.	0.000000	0.56097	D	0.000030	T	0.44138	0.1279	.	.	.	0.34950	D	0.751134	.	.	.	.	.	.	T	0.51568	-0.8689	7	0.87932	D	0	.	10.8284	0.46647	0.0977:0.0:0.9023:0.0	.	.	.	.	N	109	ENSP00000353074:K109N	ENSP00000353074:K109N	K	+	3	2	HIST1H2BF	26308092	1.000000	0.71417	1.000000	0.80357	0.282000	0.26991	2.650000	0.46665	0.829000	0.34733	-0.145000	0.13849	AAG		PASS	0.587	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		13	74	13	74	---	---	---	---
MDC1	9656	broad.mit.edu	37	6	30668371	30668371	+	Silent	SNP	A	A	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:30668371A>C	ENST00000376406.3	-	15	6788	c.6141T>G	c.(6139-6141)ccT>ccG	p.P2047P	MDC1_ENST00000376405.2_Silent_p.P1783P|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2047	BRCT 2. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Required for nuclear localization (NLS2).				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)	p.P2047P(1)		breast(2)|kidney(1)|ovary(1)	4						TGGAGCAATGAGGGAAGTCCT	0.542								Other conserved DNA damage response genes																														uc003nrg.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)|ovary(1)|kidney(1)	4						c.(6139-6141)CCT>CCG	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							115.0	108.0	110.0					6																	30668371		1510	2709	4219	SO:0001819	synonymous_variant	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30668371A>C	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.6141T>G	6.37:g.30668371A>C						MDC1_uc003nrf.3_Silent_p.P678P	p.P2047P	NM_014641	NP_055456	Q14676	MDC1_HUMAN			15	6581	-			2047			Required for nuclear localization (NLS2).|BRCT 2.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Silent	SNP	ENST00000376406.3	37	c.6141T>G	CCDS34384.1																																																																																				PASS	0.542	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641		7	101	7	101	---	---	---	---
TNXB	7148	broad.mit.edu	37	6	32014025	32014025	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:32014025C>G	ENST00000375244.3	-	31	10734	c.10533G>C	c.(10531-10533)aaG>aaC	p.K3511N	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.K3509N			P22105	TENX_HUMAN	tenascin XB	3556	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.K3576N(1)|p.K3511N(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACTTGTATTTCTTGCCAGGCT	0.632																																						uc003nzl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(10525-10527)AAG>AAC		tenascin XB isoform 1 precursor							38.0	44.0	42.0					6																	32014025		1245	2540	3785	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32014025C>G	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10533G>C	6.37:g.32014025C>G	ENSP00000364393:p.Lys3511Asn					TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'UTR	p.K3509N	NM_019105	NP_061978	P22105	TENX_HUMAN			31	10729	-			3556			Fibronectin type-III 27.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.10527G>C		.	.	.	.	.	.	.	.	.	.	C	7.725	0.698100	0.15106	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57595	0.39;0.39	4.01	1.06	0.20224	.	0.283067	0.24713	N	0.036201	T	0.13927	0.0337	N	0.25647	0.755	0.20821	N	0.999843	B	0.24317	0.101	B	0.27715	0.082	T	0.08472	-1.0720	10	0.37606	T	0.19	.	0.4981	0.00575	0.1826:0.3375:0.1776:0.3023	.	3509	P22105-3	.	N	3511;3509	ENSP00000364393:K3511N;ENSP00000364396:K3509N	ENSP00000364393:K3511N	K	-	3	2	TNXB	32122003	0.321000	0.24625	0.990000	0.47175	0.027000	0.11550	-0.131000	0.10482	0.895000	0.36342	0.313000	0.20887	AAG		PASS	0.632	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		21	58	21	58	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32188918	32188918	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:32188918A>T	ENST00000375023.3	-	4	774	c.636T>A	c.(634-636)caT>caA	p.H212Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	212	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.H212Q(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCAGGGTGTTATGGCAGGAGG	0.647																																						uc003obb.2																			1	Substitution - Missense(1)		lung(1)	lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(634-636)CAT>CAA		notch4 preproprotein							51.0	49.0	50.0					6																	32188918		1508	2709	4217	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32188918A>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.636T>A	6.37:g.32188918A>T	ENSP00000364163:p.His212Gln					NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.H212Q	p.H212Q	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			4	775	-			212			EGF-like 5; calcium-binding (Potential).|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.636T>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602469	0.46423	.	.	ENSG00000204301	ENST00000375023	T	0.08896	3.04	4.61	-5.82	0.02333	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.45361	D	0.000371	T	0.03263	0.0095	N	0.10629	0.01	0.80722	D	1	D;P	0.57899	0.981;0.536	P;B	0.60345	0.873;0.377	T	0.07731	-1.0757	10	0.29301	T	0.29	.	13.7895	0.63131	0.4152:0.0:0.5848:0.0	.	212;212	Q6P3V5;Q99466	.;NOTC4_HUMAN	Q	212	ENSP00000364163:H212Q	ENSP00000364163:H212Q	H	-	3	2	NOTCH4	32296896	0.000000	0.05858	0.914000	0.36105	0.978000	0.69477	-0.951000	0.03885	-1.043000	0.03258	-0.589000	0.04120	CAT		PASS	0.647	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			8	50	8	50	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33147224	33147224	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:33147224C>A	ENST00000374708.4	-	12	1487	c.1229G>T	c.(1228-1230)gGg>gTg	p.G410V	COL11A2_ENST00000374712.1_Missense_Mutation_p.G415V|COL11A2_ENST00000395197.1_Missense_Mutation_p.G436V|COL11A2_ENST00000477772.1_5'Flank|COL11A2_ENST00000374713.1_Missense_Mutation_p.G449V|COL11A2_ENST00000361917.1_Missense_Mutation_p.G389V|COL11A2_ENST00000357486.1_Missense_Mutation_p.G475V|COL11A2_ENST00000374714.1_Missense_Mutation_p.G470V|COL11A2_ENST00000341947.2_Missense_Mutation_p.G496V	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	496	Collagen-like 1.|Nonhelical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G496V(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCAGGGCGCCCTGTGTATCC	0.637																																					Melanoma(1;90 116 3946 5341 17093)	uc003ocx.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(1486-1488)GGG>GTG		collagen, type XI, alpha 2 isoform 1							40.0	17.0	25.0					6																	33147224		1490	2699	4189	SO:0001583	missense	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33147224C>A	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1229G>T	6.37:g.33147224C>A	ENSP00000363840:p.Gly410Val					COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.G410V|COL11A2_uc003ocz.1_Missense_Mutation_p.G389V	p.G496V	NM_080680	NP_542411	P13942	COBA2_HUMAN			14	1715	-			496			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	ENST00000374708.4	37	c.1487G>T	CCDS43452.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.249887	0.80024	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788	D;D;D;D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	H	0.94734	3.575	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.97974	1.0345	10	0.87932	D	0	.	15.3205	0.74117	0.0:1.0:0.0:0.0	.	389;410;496	P13942-8;P13942-6;P13942	.;.;COBA2_HUMAN	V	410;496;475;470;449;436;415;389;496	ENSP00000363840:G410V;ENSP00000339915:G496V;ENSP00000350079:G475V;ENSP00000363846:G470V;ENSP00000363845:G449V;ENSP00000378623:G436V;ENSP00000363844:G415V;ENSP00000355123:G389V;ENSP00000405520:G496V	ENSP00000339915:G496V	G	-	2	0	COL11A2	33255202	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	7.198000	0.77823	2.477000	0.83638	0.549000	0.68633	GGG		PASS	0.637	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			4	8	4	8	---	---	---	---
TBCC	6903	broad.mit.edu	37	6	42713446	42713446	+	Silent	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:42713446C>A	ENST00000372876.1	-	1	388	c.366G>T	c.(364-366)gcG>gcT	p.A122A	TBCC_ENST00000244625.2_Silent_p.A122A	NM_003192.2	NP_003183	Q15814	TBCC_HUMAN	tubulin folding cofactor C	122					'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)	chaperone binding (GO:0051087)|GTPase activity (GO:0003924)	p.A122A(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			CGGCCAAGGCCGCCTGCAGCC	0.627																																						uc003osl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(364-366)GCG>GCT		beta-tubulin cofactor C							17.0	23.0	21.0					6																	42713446		2175	4260	6435	SO:0001819	synonymous_variant	6903				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity	g.chr6:42713446C>A	U61234	CCDS4872.1	6p21.1	2008-02-05	2006-11-21		ENSG00000124659	ENSG00000124659			11580	protein-coding gene	gene with protein product		602971	"""tubulin-specific chaperone c"""			8706133, 11847227	Standard	NM_003192		Approved	CFC	uc003osl.3	Q15814	OTTHUMG00000014704	ENST00000372876.1:c.366G>T	6.37:g.42713446C>A							p.A122A	NM_003192	NP_003183	Q15814	TBCC_HUMAN	all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)		1	439	-	Colorectal(47;0.196)		122					Q53Y43|Q5T787	Silent	SNP	ENST00000372876.1	37	c.366G>T	CCDS4872.1																																																																																				PASS	0.627	TBCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040559.1	NM_003192		6	56	6	56	---	---	---	---
ENPP4	22875	broad.mit.edu	37	6	46107655	46107655	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:46107655G>C	ENST00000321037.4	+	2	565	c.335G>C	c.(334-336)tGg>tCg	p.W112S		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	112					blood coagulation (GO:0007596)|positive regulation of blood coagulation (GO:0030194)|purine ribonucleoside catabolic process (GO:0046130)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	bis(5'-adenosyl)-triphosphatase activity (GO:0047710)|metal ion binding (GO:0046872)	p.W112S(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GATCCTTTTTGGTGGAATGAG	0.438																																						uc003oxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(334-336)TGG>TCG		ectonucleotide pyrophosphatase/phosphodiesterase							137.0	123.0	128.0					6																	46107655		2203	4299	6502	SO:0001583	missense	22875					integral to membrane	hydrolase activity	g.chr6:46107655G>C	AB020686	CCDS34468.1	6p12.3	2010-06-24	2010-06-24		ENSG00000001561	ENSG00000001561			3359	protein-coding gene	gene with protein product						11027689	Standard	NM_014936		Approved	NPP4, KIAA0879	uc003oxy.3	Q9Y6X5	OTTHUMG00000014779	ENST00000321037.4:c.335G>C	6.37:g.46107655G>C	ENSP00000318066:p.Trp112Ser						p.W112S	NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN			2	594	+			112			Extracellular (Potential).		A8K5G1|Q7L2N1	Missense_Mutation	SNP	ENST00000321037.4	37	c.335G>C	CCDS34468.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192563	0.78902	.	.	ENSG00000001561	ENST00000321037;ENST00000371401	T	0.71698	-0.59	5.97	5.97	0.96955	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.89553	0.6748	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91358	0.5109	10	0.59425	D	0.04	-7.4001	20.4387	0.99107	0.0:0.0:1.0:0.0	.	112	Q9Y6X5	ENPP4_HUMAN	S	112	ENSP00000318066:W112S	ENSP00000318066:W112S	W	+	2	0	ENPP4	46215614	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.836000	0.97738	0.655000	0.94253	TGG		PASS	0.438	ENPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040777.2			16	109	16	109	---	---	---	---
TFAP2D	83741	broad.mit.edu	37	6	50697018	50697018	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:50697018G>T	ENST00000008391.3	+	5	1104	c.876G>T	c.(874-876)ttG>ttT	p.L292F	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)									p.L292F(2)		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)					TTACTTCCTTGGTTGAAGGTA	0.423																																						uc003paf.2																			2	Substitution - Missense(2)	p.L292F(1)	ovary(1)|lung(1)	ovary(6)|breast(1)	7						c.(874-876)TTG>TTT		transcription factor AP-2 beta-like 1							150.0	134.0	139.0					6																	50697018		2203	4300	6503	SO:0001583	missense	83741						DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:50697018G>T	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.876G>T	6.37:g.50697018G>T	ENSP00000008391:p.Leu292Phe					TFAP2D_uc011dwt.1_RNA	p.L292F	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN			5	1388	+	Lung NSC(77;0.0334)		292			H-S-H (helix-span-helix), dimerization.			Missense_Mutation	SNP	ENST00000008391.3	37	c.876G>T	CCDS4933.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366490	0.61513	.	.	ENSG00000008197	ENST00000008391	D	0.98192	-4.78	6.08	2.49	0.30216	Transcription factor AP-2, C-terminal (2);	0.000000	0.64402	D	0.000001	D	0.98479	0.9493	M	0.90595	3.13	0.80722	D	1	D	0.64830	0.994	D	0.66847	0.947	D	0.98298	1.0517	10	0.87932	D	0	-23.4602	8.5385	0.33377	0.5468:0.0:0.4532:0.0	.	292	Q7Z6R9	AP2D_HUMAN	F	292	ENSP00000008391:L292F	ENSP00000008391:L292F	L	+	3	2	TFAP2D	50804977	1.000000	0.71417	0.991000	0.47740	0.824000	0.46624	1.379000	0.34340	0.201000	0.20466	-0.469000	0.05056	TTG		PASS	0.423	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040881.1	NM_172238		23	168	23	168	---	---	---	---
FAM83B	222584	broad.mit.edu	37	6	54804947	54804947	+	Missense_Mutation	SNP	A	A	G	rs28592584		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:54804947A>G	ENST00000306858.7	+	5	1294	c.1178A>G	c.(1177-1179)cAg>cGg	p.Q393R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	393								p.Q393R(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCTGGGGAACAGCCAGAAACA	0.418																																						uc003pck.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)	6						c.(1177-1179)CAG>CGG		hypothetical protein LOC222584							80.0	80.0	80.0					6																	54804947		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54804947A>G	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1178A>G	6.37:g.54804947A>G	ENSP00000304078:p.Gln393Arg						p.Q393R	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	1294	+	Lung NSC(77;0.0178)|Renal(3;0.122)		393					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1178A>G	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	7.205	0.594325	0.13875	.	.	ENSG00000168143	ENST00000306858	T	0.06449	3.3	5.47	4.27	0.50696	.	0.231402	0.36740	N	0.002424	T	0.01976	0.0062	L	0.50919	1.6	0.28307	N	0.922856	B	0.15473	0.013	B	0.11329	0.006	T	0.45498	-0.9257	10	0.07813	T	0.8	-8.5297	12.6537	0.56776	0.8618:0.1382:0.0:0.0	rs28592584	393	Q5T0W9	FA83B_HUMAN	R	393	ENSP00000304078:Q393R	ENSP00000304078:Q393R	Q	+	2	0	FAM83B	54912906	0.998000	0.40836	0.996000	0.52242	0.737000	0.42083	2.309000	0.43699	0.964000	0.38108	0.482000	0.46254	CAG		PASS	0.418	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		11	117	11	117	---	---	---	---
POPDC3	64208	broad.mit.edu	37	6	105609428	105609428	+	Silent	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:105609428C>T	ENST00000254765.3	-	2	635	c.357G>A	c.(355-357)ctG>ctA	p.L119L	BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	119					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)		p.L119L(1)		NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				AAGAGATCCCCAGGGGCTGGA	0.448																																						uc003prb.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(355-357)CTG>CTA		popeye protein 3							127.0	138.0	134.0					6																	105609428		2203	4300	6503	SO:0001819	synonymous_variant	64208					integral to membrane		g.chr6:105609428C>T	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.357G>A	6.37:g.105609428C>T						uc003pqz.2_Intron|POPDC3_uc003pra.2_Intron	p.L119L	NM_022361	NP_071756	Q9HBV1	POPD3_HUMAN			2	759	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	119					B2RA98|Q5T3Y8|Q8TBW6	Silent	SNP	ENST00000254765.3	37	c.357G>A	CCDS5052.1																																																																																				PASS	0.448	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		20	137	20	137	---	---	---	---
RWDD1	51389	broad.mit.edu	37	6	116906012	116906012	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:116906012G>C	ENST00000466444.2	+	3	478	c.262G>C	c.(262-264)Gca>Cca	p.A88P	RWDD1_ENST00000392526.1_5'UTR|RWDD1_ENST00000487832.2_5'UTR	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	88	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.							p.A88P(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		AAAATTACTAGCATTACAGGT	0.289																																						uc003pxd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(262-264)GCA>CCA		RWD domain containing 1 isoform a							41.0	43.0	43.0					6																	116906012		2200	4295	6495	SO:0001583	missense	51389						protein binding	g.chr6:116906012G>C	AF092134	CCDS34520.1, CCDS43496.1	6q13-q22.33	2012-12-07			ENSG00000111832	ENSG00000111832			20993	protein-coding gene	gene with protein product						10810093	Standard	NM_016104		Approved	PTD013	uc003pxd.3	Q9H446	OTTHUMG00000015441	ENST00000466444.2:c.262G>C	6.37:g.116906012G>C	ENSP00000420357:p.Ala88Pro					RWDD1_uc003pxb.2_5'UTR|RWDD1_uc003pxc.2_5'UTR	p.A88P	NM_015952	NP_057036	Q9H446	RWDD1_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)	3	425	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	88			RWD.		A8K3W2|A8MT24|Q9Y313|Q9Y6B3	Missense_Mutation	SNP	ENST00000466444.2	37	c.262G>C	CCDS34520.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958433	0.34565	.	.	ENSG00000111832	ENST00000466444	T	0.52983	0.64	5.64	4.75	0.60458	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.344730	0.35466	N	0.003187	T	0.26048	0.0635	L	0.55213	1.73	0.80722	D	1	B	0.09022	0.002	B	0.14578	0.011	T	0.12630	-1.0540	10	0.37606	T	0.19	-27.9901	10.2907	0.43594	0.0:0.1314:0.5967:0.2719	.	88	Q9H446	RWDD1_HUMAN	P	88	ENSP00000420357:A88P	ENSP00000420357:A88P	A	+	1	0	RWDD1	117012705	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.980000	0.40618	1.463000	0.47967	0.655000	0.94253	GCA		PASS	0.289	RWDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041952.2	NM_015952		4	38	4	38	---	---	---	---
PNLDC1	154197	broad.mit.edu	37	6	160240058	160240058	+	Missense_Mutation	SNP	G	G	C	rs539717754		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr6:160240058G>C	ENST00000610273.1	+	17	1476	c.1305G>C	c.(1303-1305)gaG>gaC	p.E435D	PNLDC1_ENST00000392167.3_Missense_Mutation_p.E446D	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	435						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.E435D(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GGGTCAGCGAGCAGCAAGTCT	0.468																																						uc003qsx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1303-1305)GAG>GAC		poly(A)-specific ribonuclease (PARN)-like domain							107.0	106.0	107.0					6																	160240058		2203	4300	6503	SO:0001583	missense	154197					integral to membrane|nucleus	nucleic acid binding	g.chr6:160240058G>C	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1305G>C	6.37:g.160240058G>C	ENSP00000476448:p.Glu435Asp					PNLDC1_uc003qsy.1_Missense_Mutation_p.E446D	p.E435D	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	17	1476	+		Breast(66;0.00519)|Ovarian(120;0.123)	435			Cytoplasmic (Potential).		Q5TAP7|Q8N7X5	Missense_Mutation	SNP	ENST00000610273.1	37	c.1305G>C	CCDS5271.1	.	.	.	.	.	.	.	.	.	.	G	6.557	0.471000	0.12461	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	4.57	2.61	0.31194	.	0.096141	0.44902	D	0.000407	T	0.16342	0.0393	L	0.27053	0.805	0.30363	N	0.783623	D;D	0.65815	0.995;0.958	P;B	0.56278	0.795;0.373	T	0.03240	-1.1057	9	0.13853	T	0.58	.	6.8429	0.23973	0.3249:0.0:0.6751:0.0	.	446;435	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	D	435;446	.	ENSP00000275275:E435D	E	+	3	2	PNLDC1	160160048	1.000000	0.71417	1.000000	0.80357	0.192000	0.23643	2.403000	0.44530	1.142000	0.42291	0.462000	0.41574	GAG		PASS	0.468	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516		17	94	17	94	---	---	---	---
THSD7A	221981	broad.mit.edu	37	7	11441494	11441494	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:11441494G>T	ENST00000423059.4	-	23	4590	c.4339C>A	c.(4339-4341)Ccg>Acg	p.P1447T	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1447	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1447T(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ATAATCACCGGTCTGGATCTG	0.448										HNSCC(18;0.044)																												uc003ssf.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(4339-4341)CCG>ACG		thrombospondin, type I, domain containing 7A							114.0	111.0	112.0					7																	11441494		1922	4130	6052	SO:0001583	missense	221981					integral to membrane		g.chr7:11441494G>T		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.4339C>A	7.37:g.11441494G>T	ENSP00000406482:p.Pro1447Thr	HNSCC(18;0.044)					p.P1447T	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	22	4591	-			1447			Extracellular (Potential).|TSP type-1 15.			Missense_Mutation	SNP	ENST00000423059.4	37	c.4339C>A	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422146	0.25639	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.16196	2.36	5.63	4.76	0.60689	.	0.045076	0.85682	D	0.000000	T	0.06508	0.0167	N	0.01352	-0.895	0.28992	N	0.887969	B	0.02656	0.0	B	0.01281	0.0	T	0.17228	-1.0376	10	0.10111	T	0.7	.	16.8341	0.85952	0.0:0.8711:0.1289:0.0	.	1447	Q9UPZ6	THS7A_HUMAN	T	1447	ENSP00000406482:P1447T	ENSP00000262042:P1447T	P	-	1	0	THSD7A	11408019	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.661000	0.54503	1.394000	0.46624	-0.228000	0.12330	CCG		PASS	0.448	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		22	72	22	72	---	---	---	---
ETV1	2115	broad.mit.edu	37	7	13946086	13946087	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:13946086_13946087CC>AA	ENST00000430479.1	-	12	1745_1746	c.1078_1079GG>TT	c.(1078-1080)GGc>TTc	p.G360F	ETV1_ENST00000403527.1_Missense_Mutation_p.G320F|ETV1_ENST00000343495.5_Missense_Mutation_p.G342F|ETV1_ENST00000405358.4_Missense_Mutation_p.G374F|ETV1_ENST00000405192.2_Missense_Mutation_p.G337F|ETV1_ENST00000242066.5_Missense_Mutation_p.G342F|ETV1_ENST00000403685.1_Missense_Mutation_p.G342F|ETV1_ENST00000399357.3_Missense_Mutation_p.G257F|ETV1_ENST00000420159.2_Missense_Mutation_p.G302F|ETV1_ENST00000405218.2_Missense_Mutation_p.G360F	NM_004956.4	NP_004947.2	P50549	ETV1_HUMAN	ets variant 1	360					axon guidance (GO:0007411)|cell differentiation (GO:0030154)|mechanosensory behavior (GO:0007638)|muscle organ development (GO:0007517)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G360V(1)|p.G320V(1)|p.G320C(1)|p.G360F(1)|p.G360C(1)|p.G320F(1)	TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						AAATTCCATGCCTCGACCAGTC	0.396			T	"""EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"""	"""Ewing sarcoma, prostate"""																																	uc011jxq.1				Dom	yes		7	7p22	2115	T	ets variant gene 1			"""M, E"""	EWSR1|TMPRSS2|SLC45A3|C15orf21|HNRNPA2B1. ACSL3		Ewing sarcoma|prostate	TMPRSS2/ETV1(24)|EWSR1/ETV1(7)	6	Substitution - Missense(6)		lung(6)	prostate(24)|soft_tissue(4)|bone(3)|lung(2)|central_nervous_system(1)|ovary(1)	35						c.(1078-1080)GGC>GTC|c.(1078-1080)GGC>TGC		ets variant gene 1 isoform a																																				SO:0001583	missense	2115				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:13946086C>A|g.chr7:13946087C>A		CCDS55083.1, CCDS55084.1, CCDS55085.1, CCDS55086.1, CCDS55087.1, CCDS55088.1	7p22	2008-09-12	2008-09-12		ENSG00000006468	ENSG00000006468			3490	protein-coding gene	gene with protein product		600541	"""ets variant gene 1"""			1340465	Standard	NM_004956		Approved	ER81	uc003ssw.4	P50549	OTTHUMG00000152403	ENST00000430479.1:c.1078_1079delinsAA	7.37:g.13946086_13946087delinsAA	ENSP00000405327:p.Gly360Phe					ETV1_uc011jxn.1_Missense_Mutation_p.G320V|ETV1_uc011jxo.1_Missense_Mutation_p.G257V|ETV1_uc011jxp.1_Missense_Mutation_p.G302V|ETV1_uc003ssw.3_Missense_Mutation_p.G337V|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.G342V|ETV1_uc011jxs.1_Missense_Mutation_p.G342V|ETV1_uc010ktv.2_3'UTR|ETV1_uc011jxn.1_Missense_Mutation_p.G320C|ETV1_uc011jxo.1_Missense_Mutation_p.G257C|ETV1_uc011jxp.1_Missense_Mutation_p.G302C|ETV1_uc003ssw.3_Missense_Mutation_p.G337C|ETV1_uc003ssx.2_RNA|ETV1_uc011jxr.1_Missense_Mutation_p.G342C|ETV1_uc011jxs.1_Missense_Mutation_p.G342C|ETV1_uc010ktv.2_3'UTR	p.G360V|p.G360C	NM_004956	NP_004947	P50549	ETV1_HUMAN			12	1818|1817	-			360			ETS.		A4D118|B2R768|B7Z2I4|B7Z618|B7Z9P2|C9JT37|E9PHB1|F5GXR2|O75849|Q4KMQ6|Q59GA7|Q6AI30|Q9UQ71|Q9Y636	Missense_Mutation	SNP	ENST00000430479.1	37	c.1079G>T|c.1078G>T	CCDS55088.1																																																																																				PASS	0.396	ETV1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326111.1	NM_004956		10|9	25	9	25	---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20199737	20199737	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:20199737G>T	ENST00000400331.5	-	5	555	c.247C>A	c.(247-249)Caa>Aaa	p.Q83K	MACC1_ENST00000589011.1_Missense_Mutation_p.Q83K|MACC1_ENST00000332878.4_Missense_Mutation_p.Q83K	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	83					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.Q83K(1)		endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTTCTTAGTTGAGTTATGTCA	0.353																																						uc003sus.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(247-249)CAA>AAA		putative binding protein 7a5							49.0	51.0	50.0					7																	20199737		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20199737G>T		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.247C>A	7.37:g.20199737G>T	ENSP00000383185:p.Gln83Lys					MACC1_uc010kug.2_Missense_Mutation_p.Q83K	p.Q83K	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN			5	556	-			83					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.247C>A	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	G	9.946	1.218838	0.22373	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.09911	2.93;2.93	5.82	4.94	0.65067	.	0.597682	0.18553	N	0.137846	T	0.14227	0.0344	M	0.64997	1.995	0.32325	N	0.561844	B	0.20887	0.049	B	0.18871	0.023	T	0.03524	-1.1028	10	0.62326	D	0.03	-1.4836	11.7002	0.51567	0.0694:0.1314:0.7992:0.0	.	83	Q6ZN28	MACC1_HUMAN	K	83	ENSP00000383185:Q83K;ENSP00000328410:Q83K	ENSP00000328410:Q83K	Q	-	1	0	MACC1	20166262	1.000000	0.71417	0.834000	0.33040	0.644000	0.38419	2.373000	0.44266	1.473000	0.48159	0.585000	0.79938	CAA		PASS	0.353	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		7	59	7	59	---	---	---	---
SP4	6671	broad.mit.edu	37	7	21469531	21469531	+	Nonsense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:21469531C>T	ENST00000222584.3	+	3	966	c.748C>T	c.(748-750)Cag>Tag	p.Q250*		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	250					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.Q250*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						TCCTGGTACTCAGGCTCAAGT	0.478																																						uc003sva.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)	5						c.(748-750)CAG>TAG		Sp4 transcription factor							71.0	69.0	69.0					7																	21469531		2203	4300	6503	SO:0001587	stop_gained	6671				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr7:21469531C>T		CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.748C>T	7.37:g.21469531C>T	ENSP00000222584:p.Gln250*					SP4_uc003svb.2_5'UTR	p.Q250*	NM_003112	NP_003103	Q02446	SP4_HUMAN			3	929	+			250					O60402|Q32M52	Nonsense_Mutation	SNP	ENST00000222584.3	37	c.748C>T	CCDS5373.1	.	.	.	.	.	.	.	.	.	.	C	38	7.006489	0.97998	.	.	ENSG00000105866	ENST00000222584	.	.	.	4.94	4.94	0.65067	.	0.054873	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	18.3502	0.90336	0.0:1.0:0.0:0.0	.	.	.	.	X	250	.	ENSP00000222584:Q250X	Q	+	1	0	SP4	21436056	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.559000	0.86315	0.655000	0.94253	CAG		PASS	0.478	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2	NM_003112		13	63	13	63	---	---	---	---
CRHR2	1395	broad.mit.edu	37	7	30695252	30695252	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:30695252C>T	ENST00000471646.1	-	10	1414	c.997G>A	c.(997-999)Gac>Aac	p.D333N	CRHR2_ENST00000348438.4_Missense_Mutation_p.D360N|CRHR2_ENST00000506074.2_Missense_Mutation_p.D333N|CRHR2_ENST00000341843.4_Missense_Mutation_p.D319N	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	333					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)	p.D333N(1)|p.D319N(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACAGGTCGTCCTCCCCGGGA	0.597																																						uc003tbn.2																			2	Substitution - Missense(2)		lung(2)	lung(2)|ovary(1)|skin(1)	4						c.(997-999)GAC>AAC		corticotropin releasing hormone receptor 2							163.0	154.0	157.0					7																	30695252		2203	4300	6503	SO:0001583	missense	1395				G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr7:30695252C>T		CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.997G>A	7.37:g.30695252C>T	ENSP00000418722:p.Asp333Asn					CRHR2_uc010kvw.1_Missense_Mutation_p.D333N|CRHR2_uc010kvx.1_Missense_Mutation_p.D332N|CRHR2_uc010kvy.1_Missense_Mutation_p.D169N|CRHR2_uc003tbo.2_Missense_Mutation_p.D319N|CRHR2_uc003tbp.2_Missense_Mutation_p.D360N	p.D333N	NM_001883	NP_001874	Q13324	CRFR2_HUMAN			10	1241	-			333			Extracellular (Potential).		B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	ENST00000471646.1	37	c.997G>A	CCDS5429.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.671524	0.88348	.	.	ENSG00000106113	ENST00000471646;ENST00000348438;ENST00000341843;ENST00000506074	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.11	5.11	0.69529	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.55561	0.1928	L	0.47016	1.485	0.80722	D	1	D;D;D;D;D	0.67145	0.98;0.974;0.996;0.986;0.98	D;P;P;D;P	0.64321	0.924;0.83;0.848;0.913;0.906	T	0.52609	-0.8553	10	0.42905	T	0.14	.	16.4065	0.83671	0.0:1.0:0.0:0.0	.	332;333;360;319;333	B3SXT0;B3SXS6;Q13324-2;Q13324-3;Q13324	.;.;.;.;CRFR2_HUMAN	N	333;360;319;333	ENSP00000418722:D333N;ENSP00000340943:D360N;ENSP00000344304:D319N;ENSP00000426498:D333N	ENSP00000344304:D319N	D	-	1	0	CRHR2	30661777	1.000000	0.71417	0.989000	0.46669	0.560000	0.35617	7.788000	0.85771	2.533000	0.85409	0.561000	0.74099	GAC		PASS	0.597	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250448.3			26	164	26	164	---	---	---	---
CCDC129	223075	broad.mit.edu	37	7	31683478	31683478	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:31683478T>C	ENST00000407970.3	+	11	2532	c.2494T>C	c.(2494-2496)Tgc>Cgc	p.C832R	CCDC129_ENST00000319386.3_Missense_Mutation_p.C684R|CCDC129_ENST00000451887.2_Missense_Mutation_p.C858R|CCDC129_ENST00000409210.1_Missense_Mutation_p.C740R	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	832	Cys-rich.							p.C832R(1)|p.C684R(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGTAGGCACTGCCTGTGTTC	0.552																																						uc003tcj.1																			2	Substitution - Missense(2)		lung(2)		0						c.(2494-2496)TGC>CGC		coiled-coil domain containing 129							82.0	76.0	78.0					7																	31683478		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31683478T>C	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2494T>C	7.37:g.31683478T>C	ENSP00000384416:p.Cys832Arg					CCDC129_uc011kad.1_Missense_Mutation_p.C842R|CCDC129_uc003tci.1_Missense_Mutation_p.C683R|CCDC129_uc011kae.1_Missense_Mutation_p.C858R|CCDC129_uc003tck.1_Missense_Mutation_p.C740R	p.C832R	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	3487	+			832			Cys-rich.		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2494T>C	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	T	10.36	1.327772	0.24080	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.18338	2.22;2.49;2.48;2.22	5.54	-3.91	0.04168	.	1.365150	0.04437	N	0.370243	T	0.16769	0.0403	L	0.60455	1.87	0.09310	N	1	B;B;B;B	0.15473	0.013;0.001;0.001;0.001	B;B;B;B	0.15052	0.012;0.003;0.003;0.003	T	0.43245	-0.9403	10	0.56958	D	0.05	3.0933	5.7835	0.18320	0.0:0.2813:0.435:0.2838	.	858;842;832;684	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	R	684;832;858;842;740	ENSP00000313062:C684R;ENSP00000384416:C832R;ENSP00000395835:C858R;ENSP00000387214:C740R	ENSP00000313062:C684R	C	+	1	0	CCDC129	31650003	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.421000	0.07053	-0.442000	0.07190	0.533000	0.62120	TGC		PASS	0.552	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		33	60	33	60	---	---	---	---
HECW1	23072	broad.mit.edu	37	7	43594272	43594272	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:43594272T>A	ENST00000395891.2	+	29	5197	c.4592T>A	c.(4591-4593)cTg>cAg	p.L1531Q	HECW1_ENST00000453890.1_Missense_Mutation_p.L1497Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1531	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.L1510Q(1)|p.L1531Q(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGAGATTACTGCAGTTTGTC	0.572																																						uc003tid.1																			2	Substitution - Missense(2)		lung(2)	ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(4591-4593)CTG>CAG		NEDD4-like ubiquitin-protein ligase 1							53.0	52.0	52.0					7																	43594272		2011	4167	6178	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43594272T>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4592T>A	7.37:g.43594272T>A	ENSP00000379228:p.Leu1531Gln					HECW1_uc011kbi.1_Missense_Mutation_p.L1497Q	p.L1531Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			29	5197	+			1531			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.4592T>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	T	21.5	4.158460	0.78114	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.73363	-0.74;-0.74	5.75	5.75	0.90469	HECT (4);	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	H	0.99169	4.455	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95492	0.8570	10	0.87932	D	0	.	16.0707	0.80928	0.0:0.0:0.0:1.0	.	1497;1531	B4DH42;Q76N89	.;HECW1_HUMAN	Q	1531;1497;1531	ENSP00000379228:L1531Q;ENSP00000407774:L1497Q	ENSP00000265522:L1531Q	L	+	2	0	HECW1	43560797	1.000000	0.71417	0.970000	0.41538	0.393000	0.30537	7.633000	0.83260	2.194000	0.70268	0.533000	0.62120	CTG		PASS	0.572	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		6	31	6	31	---	---	---	---
SEPT14	346288	broad.mit.edu	37	7	55912272	55912272	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:55912272C>G	ENST00000388975.3	-	4	431	c.315G>C	c.(313-315)ttG>ttC	p.L105F	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	105	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)	p.L105F(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTCAATTTCAACTGAACAT	0.313																																						uc003tqz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(313-315)TTG>TTC		septin 14							170.0	165.0	167.0					7																	55912272		1838	4104	5942	SO:0001583	missense	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55912272C>G	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.315G>C	7.37:g.55912272C>G	ENSP00000373627:p.Leu105Phe						p.L105F	NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		4	432	-	Breast(14;0.214)		105					A6NCC2|B4DXD6	Missense_Mutation	SNP	ENST00000388975.3	37	c.315G>C	CCDS5519.2	.	.	.	.	.	.	.	.	.	.	c	13.51	2.260184	0.39995	.	.	ENSG00000154997	ENST00000388975	T	0.61040	0.14	4.11	4.11	0.48088	.	0.000000	0.40728	N	0.001027	T	0.77025	0.4070	M	0.90814	3.15	0.34873	D	0.743801	D	0.89917	1.0	D	0.97110	1.0	D	0.84529	0.0632	10	0.87932	D	0	.	8.478	0.33025	0.0:0.8886:0.0:0.1114	.	105	Q6ZU15	SEP14_HUMAN	F	105	ENSP00000373627:L105F	ENSP00000373627:L105F	L	-	3	2	SEPT14	55879766	1.000000	0.71417	0.990000	0.47175	0.361000	0.29550	0.464000	0.21988	2.221000	0.72209	0.655000	0.94253	TTG		PASS	0.313	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		531	241	531	241	---	---	---	---
TYW1	55253	broad.mit.edu	37	7	66489962	66489962	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:66489962G>A	ENST00000359626.5	+	7	1101	c.937G>A	c.(937-939)Gat>Aat	p.D313N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	313					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)	p.D313N(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				TTCCATTGTTGATGTTGAAGA	0.418																																						uc003tvn.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(937-939)GAT>AAT		radical S-adenosyl methionine and flavodoxin							110.0	107.0	108.0					7																	66489962		2203	4300	6503	SO:0001583	missense	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66489962G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.937G>A	7.37:g.66489962G>A	ENSP00000352645:p.Asp313Asn					TYW1_uc010lai.2_RNA	p.D313N	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			7	1086	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	313					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Missense_Mutation	SNP	ENST00000359626.5	37	c.937G>A	CCDS5538.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.843422	0.71488	.	.	ENSG00000198874	ENST00000359626	T	0.35789	1.29	4.66	4.66	0.58398	.	0.378699	0.24260	U	0.040094	T	0.65719	0.2718	M	0.88979	2.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.72164	-0.4373	10	0.59425	D	0.04	.	15.0815	0.72119	0.0:0.0:1.0:0.0	.	313	Q9NV66	TYW1_HUMAN	N	313	ENSP00000352645:D313N	ENSP00000352645:D313N	D	+	1	0	TYW1	66127397	1.000000	0.71417	0.991000	0.47740	0.446000	0.32137	7.753000	0.85153	2.408000	0.81797	0.313000	0.20887	GAT		PASS	0.418	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264		32	657	32	657	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88966163	88966163	+	Silent	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:88966163A>T	ENST00000333190.4	+	4	4476	c.3867A>T	c.(3865-3867)acA>acT	p.T1289T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1289							metal ion binding (GO:0046872)	p.T1289T(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TGCCCCCTACAGCATTTATTC	0.463										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(3865-3867)ACA>ACT		zinc finger protein 804B							210.0	191.0	197.0					7																	88966163		2203	4300	6503	SO:0001819	synonymous_variant	219578					intracellular	zinc ion binding	g.chr7:88966163A>T	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3867A>T	7.37:g.88966163A>T		HNSCC(36;0.09)					p.T1289T	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	4405	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		1289					B2RTV2|Q7Z714|Q96MN7	Silent	SNP	ENST00000333190.4	37	c.3867A>T	CCDS5613.1																																																																																				PASS	0.463	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		40	171	40	171	---	---	---	---
TAC1	6863	broad.mit.edu	37	7	97362024	97362024	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:97362024T>A	ENST00000319273.5	+	2	397	c.100T>A	c.(100-102)Tgg>Agg	p.W34R	TAC1_ENST00000350485.4_Missense_Mutation_p.W34R|TAC1_ENST00000346867.4_Missense_Mutation_p.W34R	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	34					associative learning (GO:0008306)|cell-cell signaling (GO:0007267)|detection of abiotic stimulus (GO:0009582)|inflammatory response (GO:0006954)|insemination (GO:0007320)|long-term memory (GO:0007616)|negative regulation of heart rate (GO:0010459)|neuropeptide signaling pathway (GO:0007218)|positive regulation of action potential (GO:0045760)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of corticosterone secretion (GO:2000854)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of blood pressure (GO:0008217)|response to hormone (GO:0009725)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)|tachykinin receptor signaling pathway (GO:0007217)	axon (GO:0030424)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.W34R(1)		large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)					CTGGTCCGACTGGTACGACAG	0.552																																						uc003uop.3																			1	Substitution - Missense(1)		lung(1)		0						c.(100-102)TGG>AGG		tachykinin 1 isoform beta precursor	Bacitracin(DB00626)						120.0	108.0	112.0					7																	97362024		2203	4300	6503	SO:0001583	missense	6863				detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space		g.chr7:97362024T>A	M68907	CCDS5649.1, CCDS5650.1, CCDS5651.1	7q21-q22	2013-02-26	2008-01-17		ENSG00000006128	ENSG00000006128		"""Endogenous ligands"""	11517	protein-coding gene	gene with protein product	"""substance K"", ""substance P"", ""neurokinin 1"", ""neurokinin 2"", ""neuromedin L"", ""neurokinin alpha"", ""neuropeptide K"", ""neuropeptide gamma"", ""preprotachykinin"""	162320	"""tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma)"""	TAC2, NKNA		1708336	Standard	NM_003182		Approved	NPK	uc003uop.4	P20366	OTTHUMG00000154069	ENST00000319273.5:c.100T>A	7.37:g.97362024T>A	ENSP00000321106:p.Trp34Arg					TAC1_uc003uoq.3_Missense_Mutation_p.W34R|TAC1_uc003uor.3_Missense_Mutation_p.W34R|TAC1_uc003uos.3_Missense_Mutation_p.W34R	p.W34R	NM_003182	NP_003173	P20366	TKN1_HUMAN			2	346	+	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)		34					O60600|O60601|Q00072|Q53GH4|Q549V0|Q549V1|Q549V2|Q6FHM1	Missense_Mutation	SNP	ENST00000319273.5	37	c.100T>A	CCDS5649.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.950213	0.73787	.	.	ENSG00000006128	ENST00000319273;ENST00000350485;ENST00000346867	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	T	0.67183	0.2866	L	0.44542	1.39	0.49299	D	0.999773	D;D;D;D	0.89917	0.994;1.0;0.998;0.998	D;D;D;D	0.87578	0.991;0.998;0.994;0.996	T	0.69756	-0.5059	9	0.87932	D	0	-4.2353	11.1209	0.48289	0.0:0.0:0.0:1.0	.	34;34;34;34	P20366-4;P20366-3;P20366-2;P20366	.;.;.;TKN1_HUMAN	R	34	.	ENSP00000321106:W34R	W	+	1	0	TAC1	97199960	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.303000	0.59098	2.200000	0.70718	0.459000	0.35465	TGG		PASS	0.552	TAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333696.1	NM_003182		21	104	21	104	---	---	---	---
ZNF789	285989	broad.mit.edu	37	7	99084537	99084537	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:99084537G>C	ENST00000331410.5	+	5	974	c.704G>C	c.(703-705)gGg>gCg	p.G235A	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	235					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.G235A(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGGTCTGTGGGCAAGCCTTC	0.438																																						uc003uqq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(703-705)GGG>GCG		zinc finger protein 789 isoform 1							107.0	110.0	109.0					7																	99084537		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084537G>C	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.704G>C	7.37:g.99084537G>C	ENSP00000331927:p.Gly235Ala					ZNF789_uc010lfw.1_Missense_Mutation_p.G140A|ZNF789_uc003uqr.1_Missense_Mutation_p.G177A	p.G235A	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN			5	923	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		235			C2H2-type 2.		A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.704G>C	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413560	0.62511	.	.	ENSG00000198556	ENST00000331410	T	0.35236	1.32	2.68	1.78	0.24846	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44265	0.1285	M	0.86097	2.795	0.80722	D	1	P	0.47484	0.896	B	0.44315	0.446	T	0.53085	-0.8488	9	0.72032	D	0.01	.	9.5859	0.39517	0.0:0.2172:0.7828:0.0	.	235	Q5FWF6	ZN789_HUMAN	A	235	ENSP00000331927:G235A	ENSP00000331927:G235A	G	+	2	0	ZNF789	98922473	0.994000	0.37717	0.948000	0.38648	0.951000	0.60555	1.526000	0.35964	0.690000	0.31570	0.650000	0.86243	GGG		PASS	0.438	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		26	197	26	197	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100389710	100389710	+	RNA	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:100389710C>A	ENST00000348028.3	+	0	7816				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2550E(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGGTGCTGGCAGACCCCCAG	0.672																																						uc003uwj.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(7651-7653)GCA>GAA		zonadhesin isoform 3							20.0	24.0	23.0					7																	100389710		2038	4179	6217			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100389710C>A	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100389710C>A						ZAN_uc003uwk.2_Missense_Mutation_p.A2551E|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Missense_Mutation_p.Q544K	p.A2551E	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		42	7817	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		2551			Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.7652C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	7.099|7.099	0.573634|0.573634	0.13623|0.13623	.|.	.|.	ENSG00000146839|ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585|ENST00000546213	T;T;T|T	0.77358|0.22539	-1.09;-1.09;-1.09|1.95	3.29|3.29	-3.94|-3.94	0.04130|0.04130	Uncharacterised domain, cysteine-rich (2);|.	1.742030|.	0.03586|.	N|.	0.231026|.	T|T	0.08846|0.08846	0.0219|0.0219	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999998|0.999998	P;P|B	0.47841|0.10296	0.879;0.901|0.003	B;P|B	0.46419|0.09377	0.381;0.516|0.004	T|T	0.31110|0.31110	-0.9955|-0.9955	10|9	0.08381|0.87932	T|D	0.77|0	.|.	4.9132|4.9132	0.13833|0.13833	0.0:0.387:0.3564:0.2566|0.0:0.387:0.3564:0.2566	.|.	2550;2551|967	F5H0T8;Q9Y493|F5GX59	.;ZAN_HUMAN|.	E|K	2550|967	ENSP00000445943:A2550E;ENSP00000445091:A2550E;ENSP00000444427:A2550E|ENSP00000441117:Q967K	ENSP00000445091:A2550E|ENSP00000423579:Q2551K	A|Q	+|+	2|1	0|0	ZAN|ZAN	100227646|100227646	0.000000|0.000000	0.05858|0.05858	0.682000|0.682000	0.30024|0.30024	0.938000|0.938000	0.57974|0.57974	-0.576000|-0.576000	0.05854|0.05854	-0.832000|-0.832000	0.04251|0.04251	-0.376000|-0.376000	0.06991|0.06991	GCA|CAG		PASS	0.672	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	18	6	18	---	---	---	---
PLOD3	8985	broad.mit.edu	37	7	100854987	100854987	+	Missense_Mutation	SNP	C	C	A	rs144508814		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:100854987C>A	ENST00000223127.3	-	12	1641	c.1243G>T	c.(1243-1245)Gcc>Tcc	p.A415S		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	415					basement membrane assembly (GO:0070831)|cellular protein modification process (GO:0006464)|cellular response to hormone stimulus (GO:0032870)|collagen fibril organization (GO:0030199)|endothelial cell morphogenesis (GO:0001886)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|lung morphogenesis (GO:0060425)|neural tube development (GO:0021915)|protein localization (GO:0008104)|vasodilation (GO:0042311)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen galactosyltransferase activity (GO:0050211)|procollagen glucosyltransferase activity (GO:0033823)|procollagen-lysine 5-dioxygenase activity (GO:0008475)	p.A415S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGCATGGGGGCGATCACCTTC	0.701																																						uc003uyd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1243-1245)GCC>TCC		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Succinic acid(DB00139)|Vitamin C(DB00126)						21.0	20.0	20.0					7																	100854987		2202	4298	6500	SO:0001583	missense	8985				protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr7:100854987C>A	AF046889	CCDS5715.1	7q22.1	2011-08-24			ENSG00000106397	ENSG00000106397	1.14.11.4		9083	protein-coding gene	gene with protein product	"""lysyl hydroxlase 3"""	603066				9724729, 9582318	Standard	NM_001084		Approved	LH3	uc003uyd.3	O60568	OTTHUMG00000157111	ENST00000223127.3:c.1243G>T	7.37:g.100854987C>A	ENSP00000223127:p.Ala415Ser					PLOD3_uc010lhs.2_5'UTR	p.A415S	NM_001084	NP_001075	O60568	PLOD3_HUMAN			12	1699	-	Lung NSC(181;0.168)|all_lung(186;0.215)		415					B2R6W6|Q540C3	Missense_Mutation	SNP	ENST00000223127.3	37	c.1243G>T	CCDS5715.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.941767	0.53079	.	.	ENSG00000106397	ENST00000223127	D	0.86366	-2.11	4.26	4.26	0.50523	.	0.130089	0.50627	D	0.000119	D	0.87569	0.6210	M	0.62209	1.925	0.58432	D	0.99999	P	0.38440	0.631	B	0.44085	0.44	D	0.87868	0.2669	10	0.46703	T	0.11	-19.8312	14.2637	0.66102	0.0:1.0:0.0:0.0	.	415	O60568	PLOD3_HUMAN	S	415	ENSP00000223127:A415S	ENSP00000223127:A415S	A	-	1	0	PLOD3	100641707	1.000000	0.71417	0.095000	0.20976	0.457000	0.32468	7.486000	0.81215	1.960000	0.56953	0.456000	0.33151	GCC		PASS	0.701	PLOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347470.1			5	7	5	7	---	---	---	---
TRPV6	55503	broad.mit.edu	37	7	142572280	142572280	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:142572280G>C	ENST00000359396.3	-	11	1661	c.1416C>G	c.(1414-1416)ttC>ttG	p.F472L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	472					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)	p.F472L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTAGCATCTGGAATCCTCGGG	0.592																																						uc003wbx.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1414-1416)TTC>TTG		transient receptor potential cation channel,							135.0	129.0	131.0					7																	142572280		2203	4300	6503	SO:0001583	missense	55503				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	g.chr7:142572280G>C	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1416C>G	7.37:g.142572280G>C	ENSP00000352358:p.Phe472Leu					TRPV6_uc003wbw.1_Missense_Mutation_p.F258L|TRPV6_uc010lou.1_Missense_Mutation_p.F343L	p.F472L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN			11	1632	-	Melanoma(164;0.059)		472			Cytoplasmic (Potential).		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	c.1416C>G	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116587	0.37339	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.88741	-2.42;-2.42	4.45	3.55	0.40652	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.88651	0.6494	M	0.62088	1.915	0.58432	D	0.999998	B	0.28350	0.208	B	0.42851	0.4	D	0.84772	0.0768	10	0.38643	T	0.18	-28.7824	7.0327	0.24977	0.0875:0.0:0.7386:0.1739	.	472	Q9H1D0	TRPV6_HUMAN	L	472;304;95	ENSP00000352358:F472L;ENSP00000411100:F95L	ENSP00000310825:F304L	F	-	3	2	TRPV6	142282402	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.807000	0.27140	1.214000	0.43395	-0.181000	0.13052	TTC		PASS	0.592	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274		37	78	37	78	---	---	---	---
OR6V1	346517	broad.mit.edu	37	7	142749511	142749511	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:142749511T>A	ENST00000418316.1	+	1	95	c.74T>A	c.(73-75)cTg>cAg	p.L25Q		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L25Q(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CAGGCCCTTCTGTATGGCCCC	0.517																																						uc011ksv.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(73-75)CTG>CAG		olfactory receptor, family 6, subfamily V,							192.0	185.0	187.0					7																	142749511		1971	4141	6112	SO:0001583	missense	346517				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:142749511T>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.74T>A	7.37:g.142749511T>A	ENSP00000396085:p.Leu25Gln						p.L25Q	NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN			1	74	+	Melanoma(164;0.059)		25			Helical; Name=1; (Potential).		A4D2I0|B9EH48|Q6IF70	Missense_Mutation	SNP	ENST00000418316.1	37	c.74T>A	CCDS47728.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.565208	0.45694	.	.	ENSG00000225781	ENST00000418316	T	0.17691	2.26	4.14	4.14	0.48551	.	.	.	.	.	T	0.46678	0.1405	M	0.88775	2.98	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.37314	-0.9711	9	0.87932	D	0	.	11.1558	0.48486	0.0:0.0:0.0:1.0	.	25	Q8N148	OR6V1_HUMAN	Q	25	ENSP00000396085:L25Q	ENSP00000396085:L25Q	L	+	2	0	OR6V1	142459633	0.878000	0.30173	0.010000	0.14722	0.544000	0.35116	3.842000	0.55858	1.728000	0.51552	0.459000	0.35465	CTG		PASS	0.517	OR6V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350860.1			59	134	59	134	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147336310	147336310	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr7:147336310C>A	ENST00000361727.3	+	13	2526	c.2010C>A	c.(2008-2010)gaC>gaA	p.D670E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	670	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D670E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CCTCCATGGACCAGATAAGTG	0.502										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2008-2010)GAC>GAA		cell recognition molecule Caspr2 precursor							145.0	122.0	130.0					7																	147336310		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147336310C>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2010C>A	7.37:g.147336310C>A	ENSP00000354778:p.Asp670Glu	HNSCC(39;0.1)					p.D670E	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		13	2526	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	670			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2010C>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	C	3.355	-0.131622	0.06753	.	.	ENSG00000174469	ENST00000361727;ENST00000455301	T;T	0.05855	3.38;3.38	5.74	3.47	0.39725	.	0.078821	0.64402	D	0.000018	T	0.01835	0.0058	N	0.02665	-0.54	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38457	-0.9660	10	0.02654	T	1	.	4.7546	0.13077	0.1671:0.5996:0.0:0.2333	.	670	Q9UHC6	CNTP2_HUMAN	E	670;61	ENSP00000354778:D670E;ENSP00000392208:D61E	ENSP00000354778:D670E	D	+	3	2	CNTNAP2	146967243	0.988000	0.35896	1.000000	0.80357	0.976000	0.68499	0.107000	0.15375	1.484000	0.48361	0.561000	0.74099	GAC		PASS	0.502	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			11	48	11	48	---	---	---	---
DEFA4	1669	broad.mit.edu	37	8	6794261	6794261	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr8:6794261A>G	ENST00000297435.2	-	2	285	c.161T>C	c.(160-162)cTt>cCt	p.L54P		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	54					antibacterial humoral response (GO:0019731)|defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|killing of cells of other organism (GO:0031640)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)		p.L54P(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TGAAACCTGAAGAGCAGAGCT	0.522																																						uc003wqu.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(160-162)CTT>CCT		defensin, alpha 4 preproprotein							89.0	87.0	88.0					8																	6794261		2203	4300	6503	SO:0001583	missense	1669				defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		g.chr8:6794261A>G	X65977	CCDS5961.1	8p23.1	2007-02-20			ENSG00000164821	ENSG00000164821		"""Defensins, alpha"""	2763	protein-coding gene	gene with protein product		601157		DEF4		8469233	Standard	NM_001925		Approved	HP-4	uc003wqu.1	P12838	OTTHUMG00000090382	ENST00000297435.2:c.161T>C	8.37:g.6794261A>G	ENSP00000297435:p.Leu54Pro						p.L54P	NM_001925	NP_001916	P12838	DEF4_HUMAN		COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)	2	212	-			54					Q6EZF8	Missense_Mutation	SNP	ENST00000297435.2	37	c.161T>C	CCDS5961.1	.	.	.	.	.	.	.	.	.	.	.	3.832	-0.035670	0.07497	.	.	ENSG00000164821	ENST00000297435	T	0.28895	1.59	1.66	-3.03	0.05429	.	1.275860	0.06245	U	0.691067	T	0.15739	0.0379	.	.	.	0.09310	N	0.999996	B	0.32071	0.355	B	0.28638	0.092	T	0.15578	-1.0432	9	0.45353	T	0.12	.	0.0895	0.00038	0.3233:0.2469:0.1858:0.244	.	54	P12838	DEF4_HUMAN	P	54	ENSP00000297435:L54P	ENSP00000297435:L54P	L	-	2	0	DEFA4	6781671	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.834000	0.04391	-0.812000	0.04363	0.456000	0.33151	CTT		PASS	0.522	DEFA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206754.1	NM_001925		21	78	21	78	---	---	---	---
SLC35G5	83650	broad.mit.edu	37	8	11189510	11189510	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr8:11189510T>C	ENST00000382435.4	+	1	1114	c.895T>C	c.(895-897)Tat>Cat	p.Y299H		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	299	EamA 2.					integral component of membrane (GO:0016021)		p.Y299H(2)									ACTGCAGTATTATATGCTCCA	0.567																																						uc003wtp.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)		0						c.(895-897)TAT>CAT		acyl-malonyl condensing enzyme							120.0	99.0	106.0					8																	11189510		2203	4297	6500	SO:0001583	missense	83650					integral to membrane		g.chr8:11189510T>C	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.895T>C	8.37:g.11189510T>C	ENSP00000371872:p.Tyr299His						p.Y299H	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	1016	+			299			DUF6 2.|Helical; (Potential).		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.895T>C	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	t	2.537	-0.307192	0.05458	.	.	ENSG00000177710	ENST00000382435	T	0.52295	0.67	.	.	.	.	0.000000	0.40554	N	0.001063	T	0.30039	0.0752	N	0.14661	0.345	0.09310	N	0.999991	B	0.31274	0.317	B	0.42030	0.373	T	0.16897	-1.0387	9	0.45353	T	0.12	-4.1708	2.6594	0.05021	0.0:0.4962:0.0:0.5038	.	299	Q96KT7	S35G5_HUMAN	H	299	ENSP00000371872:Y299H	ENSP00000371872:Y299H	Y	+	1	0	SLC35G5	11226920	0.074000	0.21230	0.071000	0.20095	0.071000	0.16799	0.140000	0.16056	0.056000	0.16144	0.055000	0.15244	TAT		PASS	0.567	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		7	148	7	148	---	---	---	---
KIF13B	23303	broad.mit.edu	37	8	29003964	29003964	+	Silent	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr8:29003964C>T	ENST00000524189.1	-	18	2156	c.2118G>A	c.(2116-2118)gaG>gaA	p.E706E	KIF13B_ENST00000521515.1_Silent_p.E706E	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	706					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.E706E(2)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTTTATCCAGCTCCTCAGCAA	0.428																																						uc003xhh.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(2116-2118)GAG>GAA		kinesin family member 13B							152.0	137.0	142.0					8																	29003964		1879	4112	5991	SO:0001819	synonymous_variant	23303				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding	g.chr8:29003964C>T	AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2118G>A	8.37:g.29003964C>T						KIF13B_uc003xhj.2_Silent_p.E603E	p.E706E	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)	18	2177	-		Ovarian(32;0.000536)	706			Potential.		B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	ENST00000524189.1	37	c.2118G>A	CCDS55217.1																																																																																				PASS	0.428	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			13	44	13	44	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41791206	41791206	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr8:41791206T>A	ENST00000396930.3	-	18	5075	c.4532A>T	c.(4531-4533)cAg>cTg	p.Q1511L	KAT6A_ENST00000406337.1_Missense_Mutation_p.Q1511L|KAT6A_ENST00000265713.2_Missense_Mutation_p.Q1511L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1511					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q1511L(1)									TGGGCTGATCTGGGTGTAGCC	0.567																																						uc010lxb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(4531-4533)CAG>CTG		MYST histone acetyltransferase (monocytic							138.0	116.0	124.0					8																	41791206		2203	4300	6503	SO:0001583	missense	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791206T>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4532A>T	8.37:g.41791206T>A	ENSP00000380136:p.Gln1511Leu					MYST3_uc010lxc.2_Missense_Mutation_p.Q1511L|MYST3_uc003xon.3_Missense_Mutation_p.Q1511L	p.Q1511L	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		18	5076	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	1511					Q76L81	Missense_Mutation	SNP	ENST00000396930.3	37	c.4532A>T	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	14.05	2.418782	0.42918	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.74947	-0.89;-0.89;-0.89	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.80717	0.4676	L	0.34521	1.04	0.80722	D	1	D	0.65815	0.995	D	0.79108	0.992	T	0.82833	-0.0262	10	0.87932	D	0	-17.792	16.3668	0.83335	0.0:0.0:0.0:1.0	.	1511	Q92794	KAT6A_HUMAN	L	1511	ENSP00000265713:Q1511L;ENSP00000385888:Q1511L;ENSP00000380136:Q1511L	ENSP00000265713:Q1511L	Q	-	2	0	KAT6A	41910363	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.655000	0.83696	2.322000	0.78497	0.528000	0.53228	CAG		PASS	0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		13	110	13	110	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52321593	52321593	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr8:52321593C>A	ENST00000356297.4	-	17	2691	c.2591G>T	c.(2590-2592)cGc>cTc	p.R864L	PXDNL_ENST00000543296.1_Missense_Mutation_p.R864L	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	864					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R63L(1)|p.R864L(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGGCTGGAGCGCGCGAAGAG	0.662																																						uc003xqu.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(2590-2592)CGC>CTC		peroxidasin homolog-like precursor							23.0	27.0	25.0					8																	52321593		2024	4155	6179	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52321593C>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.2591G>T	8.37:g.52321593C>A	ENSP00000348645:p.Arg864Leu					PXDNL_uc003xqt.3_RNA	p.R864L	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			17	2692	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	864					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.2591G>T	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387306	0.42308	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	D;D	0.84660	-1.88;-1.88	3.31	2.41	0.29592	.	0.272281	0.26156	N	0.026002	D	0.94443	0.8212	H	0.99286	4.5	0.37800	D	0.927681	D	0.55605	0.972	P	0.61940	0.896	D	0.94270	0.7510	10	0.66056	D	0.02	.	9.6539	0.39914	0.2105:0.7895:0.0:0.0	.	864	A1KZ92	PXDNL_HUMAN	L	864	ENSP00000348645:R864L;ENSP00000444865:R864L	ENSP00000348645:R864L	R	-	2	0	PXDNL	52484146	1.000000	0.71417	0.249000	0.24280	0.019000	0.09904	5.019000	0.64060	0.487000	0.27698	0.650000	0.86243	CGC		PASS	0.662	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		6	35	6	35	---	---	---	---
CNGB3	54714	broad.mit.edu	37	8	87755727	87755727	+	Splice_Site	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr8:87755727C>A	ENST00000320005.5	-	1	176	c.129G>T	c.(127-129)caG>caT	p.Q43H	CNGB3_ENST00000519777.1_5'UTR|RP11-386D6.1_ENST00000519041.1_RNA	NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	43					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.Q43H(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GAGGACATACCTGTGCTGTGG	0.388																																						uc003ydx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(127-129)CAG>CAT		cyclic nucleotide gated channel beta 3							287.0	241.0	256.0					8																	87755727		2203	4300	6503	SO:0001630	splice_region_variant	54714				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr8:87755727C>A	AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.129+1G>T	8.37:g.87755727C>A							p.Q43H	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN			1	175	-			43			Cytoplasmic (Potential).		C9JA51|Q9NRE9	Missense_Mutation	SNP	ENST00000320005.5	37	c.129G>T	CCDS6244.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.291183	0.59976	.	.	ENSG00000170289	ENST00000320005	T	0.33865	1.39	5.96	5.96	0.96718	.	0.000000	0.37809	N	0.001930	T	0.47893	0.1470	L	0.43152	1.355	0.42035	D	0.991049	D	0.63880	0.993	P	0.57371	0.819	T	0.19844	-1.0293	9	.	.	.	.	17.152	0.86780	0.0:1.0:0.0:0.0	.	43	Q9NQW8	CNGB3_HUMAN	H	43	ENSP00000316605:Q43H	.	Q	-	3	2	CNGB3	87824843	1.000000	0.71417	1.000000	0.80357	0.127000	0.20565	1.398000	0.34554	2.831000	0.97527	0.650000	0.86243	CAG		PASS	0.388	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375107.1	NM_019098	Missense_Mutation	41	62	41	62	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113275901	113275901	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr8:113275901C>T	ENST00000297405.5	-	61	10073	c.9829G>A	c.(9829-9831)Ggt>Agt	p.G3277S	CSMD3_ENST00000343508.3_Missense_Mutation_p.G3237S|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3207S|CSMD3_ENST00000455883.2_Missense_Mutation_p.G3108S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3277	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3277S(1)|p.G3237S(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						CTCCAGGTACCATTCCCTACA	0.403										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.(9829-9831)GGT>AGT		CUB and Sushi multiple domains 3 isoform 1							97.0	82.0	87.0					8																	113275901		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113275901C>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.9829G>A	8.37:g.113275901C>T	ENSP00000297405:p.Gly3277Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.G2479S|CSMD3_uc003ynt.2_Missense_Mutation_p.G3237S|CSMD3_uc011lhx.1_Missense_Mutation_p.G3108S	p.G3277S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			61	9988	-			3277			Sushi 25.|Extracellular (Potential).		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9829G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473812	0.96291	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.76	5.76	0.90799	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.985	D;D;D	0.97110	1.0;1.0;0.918	D	0.88046	0.2784	10	0.48119	T	0.1	.	19.976	0.97309	0.0:1.0:0.0:0.0	.	3108;3277;3237	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	3237;3277;2547;3108;3207	ENSP00000345799:G3237S;ENSP00000297405:G3277S;ENSP00000341558:G2547S;ENSP00000412263:G3108S;ENSP00000343124:G3207S	ENSP00000297405:G3277S	G	-	1	0	CSMD3	113345077	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	7.815000	0.86186	2.713000	0.92767	0.655000	0.94253	GGT		PASS	0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	25	17	25	---	---	---	---
TAF2	6873	broad.mit.edu	37	8	120774748	120774748	+	Nonsense_Mutation	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr8:120774748A>T	ENST00000378164.2	-	19	2763	c.2465T>A	c.(2464-2466)tTa>tAa	p.L822*	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	822					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to organic cyclic compound (GO:0014070)|transcription initiation from RNA polymerase II promoter (GO:0006367)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	metallopeptidase activity (GO:0008237)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L822*(2)		NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATCAGGATTTAAGTTATCCAA	0.378																																						uc003you.2																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(2)|ovary(2)|kidney(1)|skin(1)	6						c.(2464-2466)TTA>TAA		TBP-associated factor 2							71.0	69.0	70.0					8																	120774748		2203	4300	6503	SO:0001587	stop_gained	6873				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr8:120774748A>T	AF040701	CCDS34937.1	8q24	2012-07-18	2002-08-29	2001-12-07	ENSG00000064313	ENSG00000064313			11536	protein-coding gene	gene with protein product		604912	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, B, 150kD"""	TAF2B		9774672, 9418870	Standard	NM_003184		Approved	TAFII150, CIF150	uc003you.3	Q6P1X5	OTTHUMG00000165009	ENST00000378164.2:c.2465T>A	8.37:g.120774748A>T	ENSP00000367406:p.Leu822*						p.L822*	NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		19	2735	-	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		822					B2RE82|O43487|O43604|O60668|Q86WW7|Q8IWK4	Nonsense_Mutation	SNP	ENST00000378164.2	37	c.2465T>A	CCDS34937.1	.	.	.	.	.	.	.	.	.	.	A	36	5.931363	0.97116	.	.	ENSG00000064313	ENST00000378164	.	.	.	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.1133	16.2612	0.82547	1.0:0.0:0.0:0.0	.	.	.	.	X	822	.	ENSP00000367406:L822X	L	-	2	0	TAF2	120843929	1.000000	0.71417	0.993000	0.49108	0.907000	0.53573	9.313000	0.96297	2.244000	0.73946	0.477000	0.44152	TTA		PASS	0.378	TAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381436.1	NM_003184		7	53	7	53	---	---	---	---
FAM135B	51059	broad.mit.edu	37	8	139164354	139164354	+	Silent	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr8:139164354G>C	ENST00000395297.1	-	13	2534	c.2364C>G	c.(2362-2364)acC>acG	p.T788T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	788								p.T788T(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTTGCTGCTTGGTGTCCGCAT	0.522										HNSCC(54;0.14)																												uc003yuy.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|skin(2)	9						c.(2362-2364)ACC>ACG		hypothetical protein LOC51059							49.0	49.0	49.0					8																	139164354		2203	4300	6503	SO:0001819	synonymous_variant	51059							g.chr8:139164354G>C	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.2364C>G	8.37:g.139164354G>C		HNSCC(54;0.14)				FAM135B_uc003yux.2_Silent_p.T689T|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Silent_p.T350T|FAM135B_uc003yvb.2_Silent_p.T350T	p.T788T	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0805)		13	2535	-	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		788					B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	c.2364C>G	CCDS6375.2																																																																																				PASS	0.522	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		10	92	10	92	---	---	---	---
GPR20	2843	broad.mit.edu	37	8	142367828	142367828	+	Missense_Mutation	SNP	C	C	A	rs201753029		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr8:142367828C>A	ENST00000377741.3	-	2	286	c.196G>T	c.(196-198)Gca>Tca	p.A66S	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	66					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.A66S(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			ACCAGCCCTGCCAGGAAGATG	0.652																																						uc003ywf.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(196-198)GCA>TCA		G protein-coupled receptor 20							65.0	65.0	65.0					8																	142367828		2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367828C>A	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.196G>T	8.37:g.142367828C>A	ENSP00000366970:p.Ala66Ser						p.A66S	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	285	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		66			Helical; Name=1; (Potential).		Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.196G>T	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276149	0.40294	.	.	ENSG00000204882	ENST00000377741	T	0.38077	1.16	4.45	4.45	0.53987	.	0.333272	0.26582	N	0.023580	T	0.28699	0.0711	N	0.24115	0.695	0.24303	N	0.995113	B	0.24823	0.112	B	0.25614	0.062	T	0.34775	-0.9815	10	0.87932	D	0	-9.6057	16.0491	0.80744	0.0:1.0:0.0:0.0	.	66	Q99678	GPR20_HUMAN	S	66	ENSP00000366970:A66S	ENSP00000366970:A66S	A	-	1	0	GPR20	142437010	0.996000	0.38824	0.693000	0.30195	0.484000	0.33280	3.515000	0.53429	2.035000	0.60131	0.561000	0.74099	GCA		PASS	0.652	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		8	34	8	34	---	---	---	---
LRRC14	9684	broad.mit.edu	37	8	145745721	145745721	+	Silent	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr8:145745721A>G	ENST00000292524.1	+	3	575	c.429A>G	c.(427-429)gtA>gtG	p.V143V	LRRC14_ENST00000529022.1_Silent_p.V143V|RECQL4_ENST00000428558.2_5'Flank|RECQL4_ENST00000532237.1_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	143								p.V143V(1)		endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCTGCCGTAGCTCGCACAT	0.662																																						uc003zdk.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(427-429)GTA>GTG		leucine rich repeat containing 14							77.0	81.0	80.0					8																	145745721		2203	4300	6503	SO:0001819	synonymous_variant	9684							g.chr8:145745721A>G	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.429A>G	8.37:g.145745721A>G						RECQL4_uc003zdj.2_5'Flank|LRRC14_uc003zdl.1_Silent_p.V143V|LRRC14_uc003zdo.2_5'Flank	p.V143V	NM_014665	NP_055480	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	575	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		143					A8K0A8|D3DWM8	Silent	SNP	ENST00000292524.1	37	c.429A>G	CCDS6432.1																																																																																				PASS	0.662	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		9	88	9	88	---	---	---	---
ADAMTS13	11093	broad.mit.edu	37	9	136307599	136307599	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr9:136307599G>C	ENST00000371929.3	+	17	2492	c.2048G>C	c.(2047-2049)cGg>cCg	p.R683P	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R683P|ADAMTS13_ENST00000536611.1_Intron|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R652P|ADAMTS13_ENST00000485925.1_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	683	Spacer.|TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R683P(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CCTAAGCCACGGCAGGCCTGG	0.637																																						uc004cdv.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|skin(2)|ovary(1)|kidney(1)	6						c.(2047-2049)CGG>CCG		ADAM metallopeptidase with thrombospondin type 1							84.0	74.0	78.0					9																	136307599		2203	4300	6503	SO:0001583	missense	11093				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr9:136307599G>C	AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2048G>C	9.37:g.136307599G>C	ENSP00000360997:p.Arg683Pro					ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.R683P|ADAMTS13_uc004cdu.1_Missense_Mutation_p.R652P|ADAMTS13_uc004cdw.3_Missense_Mutation_p.R683P|ADAMTS13_uc004cdx.3_Missense_Mutation_p.R652P|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.3_Missense_Mutation_p.R353P|ADAMTS13_uc004cds.1_Missense_Mutation_p.R208P|ADAMTS13_uc004cdr.1_Intron	p.R683P	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	17	2492	+			683			Spacer.|TSP type-1 2.		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	ENST00000371929.3	37	c.2048G>C	CCDS6970.1	.	.	.	.	.	.	.	.	.	.	G	2.721	-0.266480	0.05754	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.59906	0.23;0.23;0.23	5.38	-4.52	0.03472	.	.	.	.	.	T	0.33990	0.0882	L	0.31294	0.92	0.09310	N	1	B;B;B	0.14438	0.002;0.007;0.01	B;B;B	0.17098	0.003;0.01;0.017	T	0.22382	-1.0218	9	0.23302	T	0.38	.	1.2581	0.01996	0.4115:0.1039:0.2619:0.2227	.	683;652;683	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	P	683;683;652	ENSP00000360997:R683P;ENSP00000347927:R683P;ENSP00000348997:R652P	ENSP00000347927:R683P	R	+	2	0	ADAMTS13	135297420	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-1.098000	0.03346	-0.428000	0.07339	-0.218000	0.12543	CGG		PASS	0.637	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054920.1	NM_139025		22	60	22	60	---	---	---	---
USP6NL	9712	broad.mit.edu	37	10	11505690	11505690	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr10:11505690C>A	ENST00000609104.1	-	15	1631	c.1237G>T	c.(1237-1239)Gag>Tag	p.E413*	USP6NL_ENST00000277575.5_Nonsense_Mutation_p.E430*|USP6NL_ENST00000379237.2_Nonsense_Mutation_p.E436*	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like	413					Golgi organization (GO:0007030)|plasma membrane to endosome transport (GO:0048227)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of Golgi organization (GO:1903358)|retrograde transport, plasma membrane to Golgi (GO:0035526)|virion assembly (GO:0019068)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.E430*(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGGAGTGCTCGTGCCTCCTG	0.672																																						uc001ikt.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1237-1239)GAG>TAG		USP6 N-terminal like isoform 1							34.0	36.0	36.0					10																	11505690		1932	4115	6047	SO:0001587	stop_gained	9712					intracellular	Rab GTPase activator activity	g.chr10:11505690C>A	BC010351	CCDS44357.1, CCDS53492.1	10p13	2013-07-09			ENSG00000148429	ENSG00000148429			16858	protein-coding gene	gene with protein product	"""related to the N terminus of tre"""	605405	"""USP6NL intronic transcript 1 (non-protein coding)"""	USP6NL-IT1		8700515, 8700527, 12399475	Standard	XR_247492		Approved	RNTRE, KIAA0019, TRE2NL, RN-tre	uc001iks.1	Q92738	OTTHUMG00000017672	ENST00000609104.1:c.1237G>T	10.37:g.11505690C>A	ENSP00000476462:p.Glu413*					USP6NL_uc001iks.1_Nonsense_Mutation_p.E430*	p.E413*	NM_014688	NP_055503	Q92738	US6NL_HUMAN			15	1558	-			413					A8KA79|Q15400|Q5VV10|Q7L0K9	Nonsense_Mutation	SNP	ENST00000609104.1	37	c.1237G>T	CCDS53492.1	.	.	.	.	.	.	.	.	.	.	C	37	6.422570	0.97555	.	.	ENSG00000148429	ENST00000535316;ENST00000277575;ENST00000379237	.	.	.	5.68	4.77	0.60923	.	0.429313	0.24341	N	0.039377	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	5.2714	0.15627	0.1424:0.6243:0.1559:0.0774	.	.	.	.	X	413;430;413	.	ENSP00000277575:E430X	E	-	1	0	USP6NL	11545696	0.997000	0.39634	0.736000	0.30914	0.003000	0.03518	2.277000	0.43417	1.526000	0.49068	-0.282000	0.10007	GAG		PASS	0.672	USP6NL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000046764.3	NM_014688		11	27	11	27	---	---	---	---
FAM188A	80013	broad.mit.edu	37	10	15880243	15880243	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr10:15880243A>G	ENST00000277632.3	-	5	665	c.445T>C	c.(445-447)Ttt>Ctt	p.F149L	FAM188A_ENST00000477891.1_Intron	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	149					apoptotic process (GO:0006915)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.F149L(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						AATGCATGAAATCGCTCAAAG	0.378																																					Pancreas(159;946 1953 2111 4475 22008)	uc001iod.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(445-447)TTT>CTT		chromosome 10 open reading frame 97							117.0	100.0	105.0					10																	15880243		2203	4299	6502	SO:0001583	missense	80013				apoptosis	nucleus	calcium ion binding	g.chr10:15880243A>G	AK023459	CCDS7110.1	10p13	2009-07-14	2009-07-14	2009-07-14	ENSG00000148481	ENSG00000148481			23578	protein-coding gene	gene with protein product	"""caspase recruitment domain containing pro-apoptotic protein"", ""CARD-containing protein"""	611649	"""chromosome 10 open reading frame 97"""	C10orf97		12054670, 17652099	Standard	XM_005252600		Approved	FLJ13397, CARP, my042, DERP5	uc001iod.1	Q9H8M7	OTTHUMG00000017734	ENST00000277632.3:c.445T>C	10.37:g.15880243A>G	ENSP00000277632:p.Phe149Leu					FAM188A_uc001ioe.1_Intron|FAM188A_uc001iof.1_Missense_Mutation_p.F149L	p.F149L	NM_024948	NP_079224	Q9H8M7	F188A_HUMAN			5	666	-			149					Q5SZ68|Q5SZ69|Q5SZ70|Q6IA40|Q6P7P0|Q7Z2S1|Q8WUF1|Q9H3I4	Missense_Mutation	SNP	ENST00000277632.3	37	c.445T>C	CCDS7110.1	.	.	.	.	.	.	.	.	.	.	A	26.4	4.732094	0.89390	.	.	ENSG00000148481	ENST00000277632	T	0.22743	1.94	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.38134	0.1029	L	0.39514	1.22	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.03717	-1.1010	10	0.39692	T	0.17	-22.2867	16.3426	0.83092	1.0:0.0:0.0:0.0	.	149	Q9H8M7	F188A_HUMAN	L	149	ENSP00000277632:F149L	ENSP00000277632:F149L	F	-	1	0	FAM188A	15920249	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.278000	0.89899	2.317000	0.78254	0.460000	0.39030	TTT		PASS	0.378	FAM188A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046990.2	NM_024948		6	56	6	56	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17156040	17156040	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr10:17156040C>T	ENST00000377833.4	-	8	934	c.869G>A	c.(868-870)gGg>gAg	p.G290E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	290	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.G290E(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)	TGGACAGGCCCCACAGTAGAA	0.552																																						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.(868-870)GGG>GAG		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						55.0	40.0	45.0					10																	17156040		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.chr10:17156040C>T	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.869G>A	10.37:g.17156040C>T	ENSP00000367064:p.Gly290Glu						p.G290E	NM_001081	NP_001072	O60494	CUBN_HUMAN			8	921	-			290			EGF-like 3; calcium-binding (Potential).		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.869G>A	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.181008	0.57800	.	.	ENSG00000107611	ENST00000377833	D	0.91521	-2.86	5.54	5.54	0.83059	Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.45606	D	0.000358	D	0.94909	0.8354	M	0.78801	2.425	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.94978	0.8123	10	0.72032	D	0.01	.	15.0665	0.71999	0.0:0.9296:0.0:0.0704	.	290	O60494	CUBN_HUMAN	E	290	ENSP00000367064:G290E	ENSP00000367064:G290E	G	-	2	0	CUBN	17196046	1.000000	0.71417	0.987000	0.45799	0.156000	0.22039	5.895000	0.69814	2.769000	0.95229	0.563000	0.77884	GGG		PASS	0.552	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		3	12	3	12	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37419161	37419161	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr10:37419161C>A	ENST00000602533.1	+	3	296	c.197C>A	c.(196-198)gCa>gAa	p.A66E	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.A66E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A66E			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	122					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A66E(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						GAGGCTTGTGCAAATATTCTG	0.323																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(196-198)GCA>GAA		ankyrin repeat domain 30A							82.0	71.0	75.0					10																	37419161		1830	4086	5916	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37419161C>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.197C>A	10.37:g.37419161C>A	ENSP00000473551:p.Ala66Glu						p.A66E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			3	296	+			122			ANK 2.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.197C>A		.	.	.	.	.	.	.	.	.	.	.	13.76	2.332071	0.41297	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.67345	-0.26;-0.26	2.0	1.05	0.20165	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.79764	0.4502	M	0.87097	2.86	0.22500	N	0.99904	D	0.69078	0.997	D	0.79108	0.992	T	0.65384	-0.6181	9	0.72032	D	0.01	.	4.5561	0.12136	0.0:0.7911:0.0:0.2089	.	122	Q9BXX3	AN30A_HUMAN	E	66	ENSP00000354432:A66E;ENSP00000363792:A66E	ENSP00000354432:A66E	A	+	2	0	ANKRD30A	37459167	0.010000	0.17322	0.274000	0.24659	0.100000	0.18952	-0.073000	0.11468	0.175000	0.19841	0.281000	0.19383	GCA		PASS	0.323	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		5	35	5	35	---	---	---	---
FAM178A	55719	broad.mit.edu	37	10	102689090	102689090	+	Nonsense_Mutation	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr10:102689090A>T	ENST00000238961.4	+	7	2601	c.2059A>T	c.(2059-2061)Aag>Tag	p.K687*	FAM178A_ENST00000370269.3_Nonsense_Mutation_p.K687*	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	687						chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.K687*(1)									TGAACTGCAGAAGCAACTACA	0.358																																						uc001krt.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2059-2061)AAG>TAG		hypothetical protein LOC55719 isoform 1							83.0	78.0	80.0					10																	102689090		2203	4299	6502	SO:0001587	stop_gained	55719							g.chr10:102689090A>T	AF460991	CCDS7500.1, CCDS44470.1, CCDS65918.1	10q24.31	2008-07-18	2008-07-18	2008-07-18	ENSG00000119906	ENSG00000119906			17814	protein-coding gene	gene with protein product		610348	"""chromosome 10 open reading frame 6"""	C10orf6		12459258	Standard	NM_018121		Approved	FLJ10512, FLJ25012	uc001krs.3	Q8IX21	OTTHUMG00000018919	ENST00000238961.4:c.2059A>T	10.37:g.102689090A>T	ENSP00000238961:p.Lys687*					FAM178A_uc001krs.2_Nonsense_Mutation_p.K687*	p.K687*	NM_018121	NP_060591	Q8IX21	F178A_HUMAN			7	2601	+			687					A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8	Nonsense_Mutation	SNP	ENST00000238961.4	37	c.2059A>T	CCDS7500.1	.	.	.	.	.	.	.	.	.	.	A	39	7.780399	0.98486	.	.	ENSG00000119906	ENST00000238961;ENST00000370269	.	.	.	5.74	4.6	0.57074	.	0.055265	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7601	10.7334	0.46111	0.8401:0.1599:0.0:0.0	.	.	.	.	X	687	.	ENSP00000238961:K687X	K	+	1	0	FAM178A	102679080	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.455000	0.66658	0.987000	0.38709	-0.460000	0.05396	AAG		PASS	0.358	FAM178A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049897.3			7	22	7	22	---	---	---	---
MGEA5	10724	broad.mit.edu	37	10	103569992	103569992	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr10:103569992G>C	ENST00000361464.3	-	4	824	c.429C>G	c.(427-429)atC>atG	p.I143M	MGEA5_ENST00000419011.2_Intron|MGEA5_ENST00000439817.1_Missense_Mutation_p.I143M|MGEA5_ENST00000370094.3_Missense_Mutation_p.I143M|MGEA5_ENST00000357797.5_Missense_Mutation_p.I143M	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	143					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)	p.I143M(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TAGAAAAAGTGATATCCAATC	0.373																																						uc001ktv.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(427-429)ATC>ATG		meningioma expressed antigen 5 (hyaluronidase)							154.0	151.0	152.0					10																	103569992		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103569992G>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.429C>G	10.37:g.103569992G>C	ENSP00000354850:p.Ile143Met					MGEA5_uc010qqe.1_Missense_Mutation_p.I143M|MGEA5_uc009xws.2_Missense_Mutation_p.I143M|MGEA5_uc001ktw.2_Missense_Mutation_p.I143M|MGEA5_uc009xwt.2_Intron|MGEA5_uc010qqf.1_Intron	p.I143M	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	4	872	-		Colorectal(252;0.207)	143					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.429C>G	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280513	0.59758	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094;ENST00000429860	T;T;T;T	0.39406	1.15;1.11;1.17;1.08	5.9	4.95	0.65309	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	L	0.31664	0.95	0.80722	D	1	D;D;D;D	0.60575	0.988;0.985;0.966;0.988	D;P;P;D	0.65323	0.934;0.891;0.833;0.934	T	0.43278	-0.9401	10	0.34782	T	0.22	-4.5455	3.5573	0.07869	0.2242:0.0:0.5752:0.2006	.	143;143;143;143	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	M	143;143;143;143;91	ENSP00000409973:I143M;ENSP00000354850:I143M;ENSP00000350445:I143M;ENSP00000359112:I143M	ENSP00000350445:I143M	I	-	3	3	MGEA5	103559982	0.998000	0.40836	1.000000	0.80357	0.988000	0.76386	0.430000	0.21428	1.339000	0.45563	0.563000	0.77884	ATC		PASS	0.373	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215		42	97	42	97	---	---	---	---
DCLRE1A	9937	broad.mit.edu	37	10	115601242	115601242	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr10:115601242C>G	ENST00000361384.2	-	7	3660	c.2743G>C	c.(2743-2745)Gaa>Caa	p.E915Q	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.E915Q	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	915					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.E915Q(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GAATTAATTTCTGGTATATTG	0.363								Other identified genes with known or suspected DNA repair function																														uc001law.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2743-2745)GAA>CAA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA cross-link repair 1A							129.0	125.0	127.0					10																	115601242		2203	4300	6503	SO:0001583	missense	9937				cell division|mitosis	nucleus	hydrolase activity	g.chr10:115601242C>G		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2743G>C	10.37:g.115601242C>G	ENSP00000355185:p.Glu915Gln						p.E915Q	NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN		Epithelial(162;0.0157)|all cancers(201;0.0171)	7	3661	-			915					D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	37	c.2743G>C	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.918213	0.52546	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.75938	-0.98;-0.98	5.09	5.09	0.68999	DNA repair metallo-beta-lactamase (1);	0.355351	0.29791	N	0.011181	T	0.75824	0.3902	M	0.73962	2.25	0.34483	D	0.704058	B	0.13594	0.008	B	0.19946	0.027	T	0.79852	-0.1628	10	0.56958	D	0.05	-14.4365	16.6176	0.84920	0.0:1.0:0.0:0.0	.	915	Q6PJP8	DCR1A_HUMAN	Q	915	ENSP00000355185:E915Q;ENSP00000358311:E915Q	ENSP00000355185:E915Q	E	-	1	0	DCLRE1A	115591232	1.000000	0.71417	0.873000	0.34254	0.981000	0.71138	2.321000	0.43805	2.521000	0.84997	0.484000	0.47621	GAA		PASS	0.363	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881		19	112	19	112	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118196342	118196342	+	Silent	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr10:118196342C>T	ENST00000369230.3	+	2	315	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	57					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.L57L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CACTCGTTTCCTGCTCTACAC	0.408																																						uc001lcl.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(169-171)CTG>TTG		pancreatic lipase-related protein 3 precursor							174.0	160.0	164.0					10																	118196342		2203	4300	6503	SO:0001819	synonymous_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118196342C>T	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.169C>T	10.37:g.118196342C>T							p.L57L	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	2	270	+			57						Silent	SNP	ENST00000369230.3	37	c.169C>T	CCDS31292.1																																																																																				PASS	0.408	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		23	104	23	104	---	---	---	---
EIF3A	8661	broad.mit.edu	37	10	120801982	120801982	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr10:120801982G>T	ENST00000369144.3	-	19	3177	c.3050C>A	c.(3049-3051)cCa>cAa	p.P1017Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.P983Q	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.P1017Q(1)		endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TCGTCTAGGTGGTCTGTCATC	0.582																																						uc001ldu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(3049-3051)CCA>CAA		eukaryotic translation initiation factor 3,							314.0	232.0	260.0					10																	120801982		2203	4300	6503	SO:0001583	missense	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120801982G>T	U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.3050C>A	10.37:g.120801982G>T	ENSP00000358140:p.Pro1017Gln					EIF3A_uc010qsu.1_Missense_Mutation_p.P983Q|EIF3A_uc009xzg.1_Missense_Mutation_p.P56Q	p.P1017Q	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	19	3196	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1017			Asp-rich.|10.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	ENST00000369144.3	37	c.3050C>A	CCDS7608.1	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510589	0.64522	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.22336	1.96;1.97	6.17	6.17	0.99709	.	0.000000	0.39146	N	0.001448	T	0.41926	0.1180	M	0.70275	2.135	0.44643	D	0.997623	D;P	0.71674	0.998;0.93	D;B	0.64877	0.93;0.368	T	0.07578	-1.0765	10	0.13108	T	0.6	-14.3899	16.2608	0.82541	0.0:0.1316:0.8683:0.0	.	983;1017	F5H335;Q14152	.;EIF3A_HUMAN	Q	1017;983	ENSP00000358140:P1017Q;ENSP00000438178:P983Q	ENSP00000358140:P1017Q	P	-	2	0	EIF3A	120791972	0.967000	0.33354	1.000000	0.80357	0.993000	0.82548	2.225000	0.42954	2.941000	0.99782	0.655000	0.94253	CCA		PASS	0.582	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050634.1	NM_003750		30	182	30	182	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1016874	1016874	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:1016874C>A	ENST00000421673.2	-	31	5977	c.5927G>T	c.(5926-5928)aGt>aTt	p.S1976I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1976	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.S1976I(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGAGAAGGGACTGCTCCCTGT	0.587																																						uc001lsw.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(5926-5928)AGT>ATT		mucin 6, gastric							1288.0	1282.0	1284.0					11																	1016874		2203	4299	6502	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1016874C>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5927G>T	11.37:g.1016874C>A	ENSP00000406861:p.Ser1976Ile						p.S1976I	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	5978	-		all_cancers(49;3.3e-08)|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;0.229)	1976			Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.5927G>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.832992	0.32421	.	.	ENSG00000184956	ENST00000421673	T	0.25749	1.78	2.58	-0.717	0.11208	.	.	.	.	.	T	0.17152	0.0412	L	0.49126	1.545	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.32824	-0.9892	9	0.31617	T	0.26	.	0.3033	0.00276	0.2071:0.3111:0.2035:0.2783	.	1976	Q6W4X9	MUC6_HUMAN	I	1976	ENSP00000406861:S1976I	ENSP00000406861:S1976I	S	-	2	0	MUC6	1006874	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	-1.619000	0.02048	-0.011000	0.14247	-0.683000	0.03753	AGT		PASS	0.587	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		24	562	24	562	---	---	---	---
MUC6	4588	broad.mit.edu	37	11	1018760	1018761	+	Missense_Mutation	DNP	GG	GG	TA			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:1018760_1018761GG>TA	ENST00000421673.2	-	31	4090_4091	c.4040_4041CC>TA	c.(4039-4041)aCC>aTA	p.T1347I		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1347	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.T1347I(4)|p.T1347T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|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;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTTCCTGATTGGTCGATTTTGC	0.54																																						uc001lsw.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)	1						c.(4039-4041)ACC>ACA|c.(4039-4041)ACC>ATC		mucin 6, gastric																																				SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1018760G>T|g.chr11:1018761G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4040_4041delinsTA	11.37:g.1018760_1018761delinsTA	ENSP00000406861:p.Thr1347Ile						p.T1347T|p.T1347I	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	31	4092|4091	-		all_cancers(49;3.3e-08)|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;0.229)	1347			Pro-rich.|Thr-rich.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent|Missense_Mutation	SNP	ENST00000421673.2	37	c.4041C>A|c.4040C>T	CCDS44513.1																																																																																				PASS	0.540	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		26	69|72	26	69	---	---	---	---
CARS	833	broad.mit.edu	37	11	3026612	3026612	+	Missense_Mutation	SNP	C	C	G	rs541100565		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:3026612C>G	ENST00000397111.5	-	19	2197	c.1952G>C	c.(1951-1953)aGa>aCa	p.R651T	CARS_ENST00000397114.3_Missense_Mutation_p.R641T|CARS_ENST00000380525.4_Missense_Mutation_p.R734T|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000401769.3_Missense_Mutation_p.R664T|CARS_ENST00000278224.9_Missense_Mutation_p.R651T			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	651					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)	p.R734T(1)|p.R651T(1)	CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTTTTCTTCTCTCTCTTTTAA	0.398			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	uc001lxh.2				Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	2	Substitution - Missense(2)		lung(2)	soft_tissue(5)|ovary(2)	7						c.(1951-1953)AGA>ACA		cysteinyl-tRNA synthetase isoform b	L-Cysteine(DB00151)						177.0	165.0	169.0					11																	3026612		2202	4298	6500	SO:0001583	missense	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	g.chr11:3026612C>G	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1952G>C	11.37:g.3026612C>G	ENSP00000380300:p.Arg651Thr					CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Missense_Mutation_p.R641T|CARS_uc001lxf.2_Missense_Mutation_p.R734T|CARS_uc001lxg.2_Missense_Mutation_p.R651T|CARS_uc010qxo.1_Missense_Mutation_p.R734T|CARS_uc010qxp.1_Missense_Mutation_p.R664T	p.R651T	NM_001751	NP_001742	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	19	2026	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	651					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.1952G>C	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647693	0.47258	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.48201	0.82;0.83;0.83;0.83;0.83	3.9	1.97	0.26223	.	0.295951	0.36303	N	0.002666	T	0.57007	0.2024	M	0.86651	2.83	0.42982	D	0.994467	B;P;P;P;B;P	0.49253	0.161;0.474;0.726;0.921;0.136;0.76	B;B;B;P;B;B	0.49999	0.142;0.174;0.342;0.628;0.123;0.424	T	0.58640	-0.7601	10	0.62326	D	0.03	-11.8936	6.453	0.21914	0.0:0.7621:0.0:0.2379	.	664;734;651;651;734;641	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	T	734;651;651;641;664	ENSP00000369897:R734T;ENSP00000380300:R651T;ENSP00000278224:R651T;ENSP00000380303:R641T;ENSP00000384069:R664T	ENSP00000278224:R651T	R	-	2	0	CARS	2983188	1.000000	0.71417	0.999000	0.59377	0.796000	0.44982	1.766000	0.38491	0.405000	0.25532	0.561000	0.74099	AGA		PASS	0.398	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		23	58	23	58	---	---	---	---
OR51I1	390063	broad.mit.edu	37	11	5461847	5461847	+	Nonsense_Mutation	SNP	C	C	A	rs267602954		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:5461847C>A	ENST00000380211.1	-	1	897	c.898G>T	c.(898-900)Gag>Tag	p.E300*	HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	300					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.E300*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGCGGATCTCCTTGGTTTTC	0.473																																						uc010qze.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(898-900)GAG>TAG		olfactory receptor, family 51, subfamily I,							111.0	106.0	108.0					11																	5461847		2201	4297	6498	SO:0001587	stop_gained	390063				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5461847C>A	BK004429	CCDS31382.1	11p15.4	2012-08-09			ENSG00000167359	ENSG00000167359		"""GPCR / Class A : Olfactory receptors"""	15200	protein-coding gene	gene with protein product							Standard	NM_001005288		Approved		uc010qze.2	Q9H343	OTTHUMG00000066908	ENST00000380211.1:c.898G>T	11.37:g.5461847C>A	ENSP00000369559:p.Glu300*					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.E300*	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	898	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	300			Cytoplasmic (Potential).		B9EKW2|Q6IF33	Nonsense_Mutation	SNP	ENST00000380211.1	37	c.898G>T	CCDS31382.1	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123385	0.37436	.	.	ENSG00000167359	ENST00000321307;ENST00000380211	.	.	.	5.47	4.56	0.56223	.	0.226096	0.30820	N	0.008819	.	.	.	.	.	.	0.47547	D	0.999459	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	9.9512	0.41640	0.0:0.7845:0.1384:0.0771	.	.	.	.	X	297;300	.	ENSP00000439622:E297X	E	-	1	0	OR51I1	5418423	0.513000	0.26194	0.995000	0.50966	0.143000	0.21401	2.191000	0.42640	1.330000	0.45394	0.551000	0.68910	GAG		PASS	0.473	OR51I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143399.1	NM_001005288		37	78	37	78	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43418950	43418950	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:43418950A>T	ENST00000039989.4	+	7	841	c.827A>T	c.(826-828)cAc>cTc	p.H276L	TTC17_ENST00000299240.6_Missense_Mutation_p.H276L|TTC17_ENST00000526774.1_3'UTR|RP11-484D2.4_ENST00000394183.2_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	276					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.H276L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CACAGAGCACACTTCTCTGCT	0.448																																						uc001mxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(826-828)CAC>CTC		tetratricopeptide repeat domain 17							227.0	190.0	203.0					11																	43418950		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43418950A>T	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.827A>T	11.37:g.43418950A>T	ENSP00000039989:p.His276Leu					TTC17_uc001mxh.2_Missense_Mutation_p.H276L|TTC17_uc010rfj.1_Missense_Mutation_p.H219L|TTC17_uc001mxj.2_Missense_Mutation_p.H46L	p.H276L	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			7	841	+			276					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.827A>T	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	A	33	5.229147	0.95173	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.52526	0.66;0.66	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.65863	0.2732	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;0.962;1.0	D;P;D	0.74348	0.983;0.871;0.982	T	0.68021	-0.5519	10	0.72032	D	0.01	-18.3202	16.3631	0.83280	1.0:0.0:0.0:0.0	.	276;276;276	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	L	276	ENSP00000299240:H276L;ENSP00000039989:H276L	ENSP00000039989:H276L	H	+	2	0	TTC17	43375526	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.962000	0.93254	2.266000	0.75297	0.533000	0.62120	CAC		PASS	0.448	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		39	134	39	134	---	---	---	---
TTC17	55761	broad.mit.edu	37	11	43427351	43427351	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:43427351C>A	ENST00000039989.4	+	13	1625	c.1611C>A	c.(1609-1611)agC>agA	p.S537R	TTC17_ENST00000299240.6_Missense_Mutation_p.S537R|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	537					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S537R(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ACGAACTCAGCAGTGATGATT	0.398																																						uc001mxi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(1609-1611)AGC>AGA		tetratricopeptide repeat domain 17							123.0	118.0	120.0					11																	43427351		2203	4300	6503	SO:0001583	missense	55761						binding	g.chr11:43427351C>A	AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.1611C>A	11.37:g.43427351C>A	ENSP00000039989:p.Ser537Arg					TTC17_uc001mxh.2_Missense_Mutation_p.S537R|TTC17_uc010rfj.1_Missense_Mutation_p.S480R|TTC17_uc001mxj.2_Missense_Mutation_p.S307R	p.S537R	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN			13	1625	+			537					G3XAB3|Q8NEC0	Missense_Mutation	SNP	ENST00000039989.4	37	c.1611C>A	CCDS31466.1	.	.	.	.	.	.	.	.	.	.	C	8.559	0.877241	0.17395	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.30981	1.52;1.51	5.64	4.73	0.59995	.	1.250420	0.04962	N	0.462250	T	0.17492	0.0420	N	0.08118	0	0.25030	N	0.991273	B;B;B	0.29909	0.008;0.261;0.031	B;B;B	0.20384	0.013;0.021;0.029	T	0.15607	-1.0431	10	0.13853	T	0.58	-1.4037	11.2635	0.49097	0.0:0.8425:0.0:0.1575	.	537;537;537	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	R	537	ENSP00000299240:S537R;ENSP00000039989:S537R	ENSP00000039989:S537R	S	+	3	2	TTC17	43383927	0.998000	0.40836	0.959000	0.39883	0.971000	0.66376	4.722000	0.61958	1.398000	0.46701	0.655000	0.94253	AGC		PASS	0.398	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389577.2	NM_018259		28	105	28	105	---	---	---	---
OR4C13	283092	broad.mit.edu	37	11	49974362	49974362	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:49974362T>A	ENST00000555099.1	+	1	420	c.388T>A	c.(388-390)Tat>Aat	p.Y130N		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	130						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y130N(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GCCCTTGCACTATACCACCGT	0.468																																						uc010rhz.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(388-390)TAT>AAT		olfactory receptor, family 4, subfamily C,							114.0	102.0	106.0					11																	49974362		2201	4296	6497	SO:0001583	missense	283092				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:49974362T>A	AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.388T>A	11.37:g.49974362T>A	ENSP00000452277:p.Tyr130Asn						p.Y130N	NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN			1	388	+			130			Cytoplasmic (Potential).		A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	ENST00000555099.1	37	c.388T>A	CCDS31495.1	.	.	.	.	.	.	.	.	.	.	.	10.51	1.370700	0.24771	.	.	ENSG00000258817	ENST00000555099	T	0.33438	1.41	2.95	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000708	T	0.65749	0.2721	H	0.99042	4.41	0.32917	D	0.515294	D	0.89917	1.0	D	0.70487	0.969	T	0.73260	-0.4039	9	.	.	.	.	6.73	0.23379	0.2105:0.0:0.0:0.7895	.	130	Q8NGP0	OR4CD_HUMAN	N	130	ENSP00000452277:Y130N	.	Y	+	1	0	OR4C13	49930938	1.000000	0.71417	0.679000	0.29978	0.012000	0.07955	7.255000	0.78338	0.348000	0.23949	-1.381000	0.01174	TAT		PASS	0.468	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391103.1	NM_001001955		24	75	24	75	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55135383	55135383	+	Silent	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:55135383C>T	ENST00000314706.3	+	1	24	c.24C>T	c.(22-24)ctC>ctT	p.L8L		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L8L(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CAAATAATCTCAAATTTATCA	0.413																																						uc010rif.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(22-24)CTC>CTT		olfactory receptor, family 4, subfamily A,							53.0	47.0	49.0					11																	55135383		2201	4295	6496	SO:0001819	synonymous_variant	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135383C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.24C>T	11.37:g.55135383C>T							p.L8L	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	24	+			8			Extracellular (Potential).		Q6IFL4|Q96R65	Silent	SNP	ENST00000314706.3	37	c.24C>T	CCDS31500.1																																																																																				PASS	0.413	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		9	26	9	26	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468238	56468238	+	Silent	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:56468238C>A	ENST00000312153.1	+	1	375	c.375C>A	c.(373-375)atC>atA	p.I125I		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, 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.I125I(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACGTGGCCATCTCCAAGCCCC	0.522																																						uc010rjn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(373-375)ATC>ATA		olfactory receptor, family 9, subfamily G,							156.0	143.0	147.0					11																	56468238		2201	4296	6497	SO:0001819	synonymous_variant	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468238C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.375C>A	11.37:g.56468238C>A							p.I125I	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	375	+			125			Cytoplasmic (Potential).		Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.375C>A	CCDS31536.1																																																																																				PASS	0.522	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		11	153	11	153	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468590	56468590	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:56468590C>A	ENST00000312153.1	+	1	727	c.727C>A	c.(727-729)Cac>Aac	p.H243N		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H243N(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ATGCTCCTCCCACCTGACCTC	0.473																																						uc010rjn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(727-729)CAC>AAC		olfactory receptor, family 9, subfamily G,							228.0	235.0	232.0					11																	56468590		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468590C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.727C>A	11.37:g.56468590C>A	ENSP00000309012:p.His243Asn						p.H243N	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	727	+			243			Helical; Name=6; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.727C>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684792	0.68157	.	.	ENSG00000174914	ENST00000312153	T	0.00314	8.14	4.62	4.62	0.57501	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000023	T	0.01454	0.0047	H	0.98577	4.27	0.47511	D	0.999445	D	0.89917	1.0	D	0.97110	1.0	T	0.28202	-1.0051	10	0.87932	D	0	-33.1104	17.5976	0.88016	0.0:1.0:0.0:0.0	.	243	Q8NH87	OR9G1_HUMAN	N	243	ENSP00000309012:H243N	ENSP00000309012:H243N	H	+	1	0	OR9G1	56225166	1.000000	0.71417	0.999000	0.59377	0.563000	0.35712	5.121000	0.64691	2.528000	0.85240	0.637000	0.83480	CAC		PASS	0.473	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		47	245	47	245	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468598	56468598	+	Silent	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:56468598C>A	ENST00000312153.1	+	1	735	c.735C>A	c.(733-735)acC>acA	p.T245T		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T245T(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CCCACCTGACCTCTGTCACTT	0.458																																						uc010rjn.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(733-735)ACC>ACA		olfactory receptor, family 9, subfamily G,							236.0	243.0	240.0					11																	56468598		2201	4296	6497	SO:0001819	synonymous_variant	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468598C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.735C>A	11.37:g.56468598C>A							p.T245T	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	735	+			245			Helical; Name=6; (Potential).		Q6IEU9|Q8NGQ0	Silent	SNP	ENST00000312153.1	37	c.735C>A	CCDS31536.1																																																																																				PASS	0.458	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		26	287	26	287	---	---	---	---
OR5B2	390190	broad.mit.edu	37	11	58190455	58190455	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:58190455C>A	ENST00000302581.2	-	1	331	c.280G>T	c.(280-282)Gca>Tca	p.A94S		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A94S(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)				ACAGCACATGCATTGTAGGAG	0.502																																						uc010rkg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(280-282)GCA>TCA		olfactory receptor, family 5, subfamily B,							150.0	126.0	134.0					11																	58190455		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190455C>A	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.280G>T	11.37:g.58190455C>A	ENSP00000303076:p.Ala94Ser						p.A94S	NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN			1	280	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	94			Extracellular (Potential).		B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.280G>T	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	C	4.582	0.108067	0.08780	.	.	ENSG00000172365	ENST00000302581	T	0.03004	4.08	3.82	1.86	0.25419	GPCR, rhodopsin-like superfamily (1);	0.246545	0.21020	U	0.081525	T	0.02848	0.0085	N	0.25992	0.78	0.09310	N	1	B	0.26876	0.162	B	0.23419	0.046	T	0.42716	-0.9435	10	0.42905	T	0.14	-10.3477	7.2104	0.25931	0.1685:0.7371:0.0:0.0944	.	94	Q96R09	OR5B2_HUMAN	S	94	ENSP00000303076:A94S	ENSP00000303076:A94S	A	-	1	0	OR5B2	57947031	0.001000	0.12720	0.043000	0.18650	0.066000	0.16364	1.074000	0.30703	0.387000	0.25024	0.580000	0.79431	GCA		PASS	0.502	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		29	84	29	84	---	---	---	---
NAA40	79829	broad.mit.edu	37	11	63713361	63713361	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:63713361G>C	ENST00000377793.4	+	2	157	c.56G>C	c.(55-57)cGa>cCa	p.R19P	NAA40_ENST00000542163.1_5'UTR|NAA40_ENST00000539656.1_Missense_Mutation_p.R19P|NAA40_ENST00000536939.1_3'UTR|NAA40_ENST00000456907.2_5'UTR	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	19					lipid metabolic process (GO:0006629)		N-acetyltransferase activity (GO:0008080)	p.R19P(1)		NS(1)|endometrium(1)|lung(2)|prostate(1)	5						TTGGAGGAGCGAGCAGCCATG	0.532											OREG0021041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009yoz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(55-57)CGA>CCA		N-acetyltransferase 11							247.0	192.0	211.0					11																	63713361		2201	4297	6498	SO:0001583	missense	79829						N-acetyltransferase activity	g.chr11:63713361G>C	AK023910	CCDS8053.1, CCDS73311.1	11q13.1	2013-10-11	2013-08-28	2010-01-14	ENSG00000110583	ENSG00000110583		"""N(alpha)-acetyltransferase subunits"""	25845	protein-coding gene	gene with protein product			"""N-acetyltransferase 11"", ""N-acetyltransferase 11 (GCN5-related, putative)"", ""N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae)"""	NAT11		19660095	Standard	XM_005274296		Approved	FLJ13848	uc009yoz.3	Q86UY6	OTTHUMG00000167784	ENST00000377793.4:c.56G>C	11.37:g.63713361G>C	ENSP00000367024:p.Arg19Pro		OREG0021041	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1071	NAA40_uc010rmw.1_5'UTR|NAA40_uc010rmx.1_5'UTR	p.R19P	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN			2	183	+			19					B4DR03|B4DU10|Q5HYL5|Q9H897	Missense_Mutation	SNP	ENST00000377793.4	37	c.56G>C	CCDS8053.1	.	.	.	.	.	.	.	.	.	.	G	17.37	3.372984	0.61624	.	.	ENSG00000110583	ENST00000377793;ENST00000539656	.	.	.	5.87	5.87	0.94306	.	0.105591	0.64402	D	0.000005	T	0.72374	0.3452	L	0.40543	1.245	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.67280	-0.5710	9	0.31617	T	0.26	-12.3667	19.0503	0.93041	0.0:0.0:1.0:0.0	.	19	Q86UY6	NAA40_HUMAN	P	19	.	ENSP00000367024:R19P	R	+	2	0	NAA40	63469937	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.833000	0.92089	2.788000	0.95919	0.650000	0.86243	CGA		PASS	0.532	NAA40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396266.1	NM_024771		7	79	7	79	---	---	---	---
KCNK7	10089	broad.mit.edu	37	11	65360632	65360632	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:65360632G>A	ENST00000340313.4	-	3	991	c.768C>T	c.(766-768)ttC>ttT	p.F256F	AP001362.1_ENST00000597463.1_5'Flank|KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000394217.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	256					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.F256F(1)		endometrium(1)|liver(1)|lung(1)	3						GCAGCTCAGAGAAGGTCTCCA	0.607																																						uc001oes.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(766-768)TTC>TTT		potassium channel, subfamily K, member 7 isoform							52.0	51.0	51.0					11																	65360632		2200	4297	6497	SO:0001819	synonymous_variant	10089					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:65360632G>A	AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528	ENST00000340313.4:c.768C>T	11.37:g.65360632G>A						KCNK7_uc001oeq.2_3'UTR|KCNK7_uc001oer.2_3'UTR|KCNK7_uc001oeu.2_3'UTR	p.F256F	NM_033347	NP_203133	Q9Y2U2	KCNK7_HUMAN			3	992	-			256			Cytoplasmic (Potential).		Q3SYI2|Q9Y2U3|Q9Y2U4	Silent	SNP	ENST00000340313.4	37	c.768C>T	CCDS31608.1	.	.	.	.	.	.	.	.	.	.	G	4.891	0.165608	0.09339	.	.	ENSG00000173338	ENST00000530380	.	.	.	4.87	-1.85	0.07784	.	.	.	.	.	T	0.23611	0.0571	.	.	.	0.21184	N	0.999763	.	.	.	.	.	.	T	0.30031	-0.9992	4	.	.	.	.	5.5293	0.16974	0.4341:0.1446:0.4213:0.0	.	.	.	.	F	21	.	.	L	-	1	0	KCNK7	65117208	1.000000	0.71417	0.001000	0.08648	0.008000	0.06430	2.096000	0.41738	-0.379000	0.07906	-0.254000	0.11334	CTC		PASS	0.607	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390206.1	NM_005714		5	17	5	17	---	---	---	---
KCTD21	283219	broad.mit.edu	37	11	77885471	77885471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:77885471G>A	ENST00000340067.3	-	2	408	c.130C>T	c.(130-132)Cag>Tag	p.Q44*	KCTD21-AS1_ENST00000600795.1_RNA|KCTD21-AS1_ENST00000530261.1_RNA|KCTD21-AS1_ENST00000523626.2_RNA|KCTD21-AS1_ENST00000528468.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	44	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)			p.Q44*(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			CAGTTGCCCTGGCTGTCCCTC	0.577																																						uc001ozb.2																			1	Substitution - Nonsense(1)		lung(1)	pancreas(1)	1						c.(130-132)CAG>TAG		potassium channel tetramerisation domain							132.0	98.0	110.0					11																	77885471		2200	4292	6492	SO:0001587	stop_gained	283219					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:77885471G>A	AK095233	CCDS31645.1	11q14.1	2013-06-20	2013-06-20			ENSG00000188997			27452	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 21"""			21472142	Standard	XM_005273925		Approved	KCASH2	uc001ozb.3	Q4G0X4		ENST00000340067.3:c.130C>T	11.37:g.77885471G>A	ENSP00000339340:p.Gln44*						p.Q44*	NM_001029859	NP_001025030	Q4G0X4	KCD21_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)		2	205	-	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		44			BTB.		B4DTR0	Nonsense_Mutation	SNP	ENST00000340067.3	37	c.130C>T	CCDS31645.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904508	0.72868	.	.	ENSG00000188997	ENST00000340067;ENST00000526208;ENST00000525447;ENST00000529350;ENST00000530018	.	.	.	5.73	5.73	0.89815	.	0.114833	0.38897	N	0.001522	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	19.904	0.97001	0.0:0.0:1.0:0.0	.	.	.	.	X	44	.	ENSP00000339340:Q44X	Q	-	1	0	KCTD21	77563119	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.708000	0.61859	2.689000	0.91719	0.655000	0.94253	CAG		PASS	0.577	KCTD21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390057.1	NM_001029859		9	36	9	36	---	---	---	---
NAALAD2	10003	broad.mit.edu	37	11	89891312	89891312	+	Splice_Site	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:89891312G>A	ENST00000534061.1	+	7	1026		c.e7-1		NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000321955.4_Splice_Site|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2						neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)	p.?(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GATTTTTTTAGAATACACTTT	0.333																																						uc001pdf.3																			1	Unknown(1)		lung(1)	pancreas(1)|skin(1)	2						c.e7-1		N-acetylated alpha-linked acidic dipeptidase 2							81.0	88.0	85.0					11																	89891312		2201	4297	6498	SO:0001630	splice_region_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89891312G>A	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.797-1G>A	11.37:g.89891312G>A						NAALAD2_uc009yvx.2_Splice_Site_p.E266_splice|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_Splice_Site_p.E266_splice|NAALAD2_uc001pde.2_Intron	p.E266_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			7	906	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)						B3KQR4|Q4KKV4|Q4VAM9	Splice_Site	SNP	ENST00000534061.1	37	c.797_splice	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.597085	0.46318	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0013	0.92836	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAALAD2	89530960	1.000000	0.71417	0.997000	0.53966	0.323000	0.28346	8.851000	0.92205	2.572000	0.86782	0.580000	0.79431	.		PASS	0.333	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467	Intron	31	104	31	104	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92085823	92085823	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:92085823C>A	ENST00000298047.6	+	1	562	c.545C>A	c.(544-546)gCa>gAa	p.A182E	FAT3_ENST00000525166.1_Missense_Mutation_p.A32E|FAT3_ENST00000541502.1_Missense_Mutation_p.A182E|FAT3_ENST00000409404.2_Missense_Mutation_p.A182E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	182	Cadherin 2. {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.A182E(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)				CAGGTGACTGCAACAGACGCA	0.408										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(544-546)GCA>GAA		FAT tumor suppressor homolog 3							63.0	62.0	63.0					11																	92085823		1877	4120	5997	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085823C>A	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.545C>A	11.37:g.92085823C>A	ENSP00000298047:p.Ala182Glu	TCGA Ovarian(4;0.039)					p.A182E	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	562	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	182			Cadherin 2.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.545C>A		.	.	.	.	.	.	.	.	.	.	C	18.96	3.733624	0.69189	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.26	5.26	0.73747	.	.	.	.	.	D	0.85991	0.5826	H	0.98682	4.3	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91443	0.5175	9	0.87932	D	0	.	18.2264	0.89918	0.0:1.0:0.0:0.0	.	182	Q8TDW7-3	.	E	182;182;182;32	ENSP00000298047:A182E;ENSP00000387040:A182E;ENSP00000443786:A182E;ENSP00000432586:A32E	ENSP00000298047:A182E	A	+	2	0	FAT3	91725471	1.000000	0.71417	0.270000	0.24601	0.706000	0.40770	7.755000	0.85180	2.607000	0.88179	0.655000	0.94253	GCA		PASS	0.408	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		21	80	21	80	---	---	---	---
ALKBH8	91801	broad.mit.edu	37	11	107424703	107424703	+	Splice_Site	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:107424703C>G	ENST00000428149.2	-	4	520	c.369G>C	c.(367-369)gtG>gtC	p.V123V	ALKBH8_ENST00000417449.2_Splice_Site_p.V126V|ALKBH8_ENST00000530933.1_Intron|ALKBH8_ENST00000389568.3_Splice_Site_p.V123V|ALKBH8_ENST00000429370.1_Splice_Site_p.V123V	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	123					cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)	p.V123V(2)|p.V126V(1)		breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CCTTCCACTGCACTATGGGAA	0.368																																						uc010rvr.1																			3	Substitution - coding silent(3)		lung(3)		0						c.(367-369)GTG>GTC		alkB, alkylation repair homolog 8							53.0	47.0	49.0					11																	107424703		2201	4298	6499	SO:0001630	splice_region_variant	91801				response to DNA damage stimulus	cytosol|nucleus	metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|RNA binding|tRNA (uracil) methyltransferase activity	g.chr11:107424703C>G	AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.368-1G>C	11.37:g.107424703C>G						ALKBH8_uc001pjk.2_5'Flank|ALKBH8_uc010rvq.1_Intron|ALKBH8_uc009yxp.2_Silent_p.V123V|ALKBH8_uc001pjl.2_RNA	p.V123V	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)	4	444	-		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)	123					B1Q2M0|B4DEF6|Q8N989	Silent	SNP	ENST00000428149.2	37	c.369G>C	CCDS8337.2																																																																																				PASS	0.368	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347071.2	NM_138775	Silent	11	41	11	41	---	---	---	---
RDX	5962	broad.mit.edu	37	11	110134937	110134937	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:110134937T>A	ENST00000343115.4	-	5	534	c.215A>T	c.(214-216)aAa>aTa	p.K72I	RDX_ENST00000530301.1_Missense_Mutation_p.K40I|RDX_ENST00000405097.1_Missense_Mutation_p.K72I|RDX_ENST00000544551.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.K72I|RDX_ENST00000528900.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	72	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.K72I(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		AGGATTCTCTTTTTTAACATC	0.299																																					Esophageal Squamous(55;25 1062 11040 28755 44273)	uc001pku.2																			1	Substitution - Missense(1)		lung(1)		0						c.(214-216)AAA>ATA		radixin							31.0	32.0	32.0					11																	110134937		2200	4298	6498	SO:0001583	missense	5962				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding	g.chr11:110134937T>A	BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.215A>T	11.37:g.110134937T>A	ENSP00000342830:p.Lys72Ile					RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Missense_Mutation_p.K72I|RDX_uc009yxz.2_Intron|RDX_uc009yya.2_Missense_Mutation_p.K40I|RDX_uc010rwe.1_Intron	p.K72I	NM_002906	NP_002897	P35241	RADI_HUMAN		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)	5	525	-		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	72			FERM.		A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	c.215A>T	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.108302	0.77096	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000530301;ENST00000343115;ENST00000532118;ENST00000533991	T;T;T;T;T;T	0.77750	-1.12;-1.12;-1.02;-1.12;-1.12;-1.12	5.09	5.09	0.68999	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.000000	0.85682	D	0.000000	D	0.86781	0.6015	M	0.73962	2.25	0.80722	D	1	D;P;B	0.58970	0.984;0.794;0.008	D;D;B	0.65987	0.923;0.94;0.41	D	0.88476	0.3065	10	0.72032	D	0.01	.	15.1613	0.72788	0.0:0.0:0.0:1.0	.	40;72;72	A7YIK0;A7YIJ8;P35241	.;.;RADI_HUMAN	I	72;72;72;40;72;61;61	ENSP00000432112:K72I;ENSP00000384136:K72I;ENSP00000436277:K40I;ENSP00000342830:K72I;ENSP00000437140:K61I;ENSP00000432572:K61I	ENSP00000342830:K72I	K	-	2	0	RDX	109640147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.032000	0.59987	0.528000	0.53228	AAA		PASS	0.299	RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906		9	28	9	28	---	---	---	---
SCN3B	55800	broad.mit.edu	37	11	123516385	123516385	+	Silent	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:123516385C>G	ENST00000392770.2	-	2	931	c.129G>C	c.(127-129)ctG>ctC	p.L43L	SCN3B_ENST00000299333.3_Silent_p.L43L|SCN3B_ENST00000530277.1_Silent_p.L43L	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	43	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.L43L(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	AGATGCAGCGCAGCTTCATGG	0.577																																						uc001pza.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1)	6						c.(127-129)CTG>CTC		voltage-gated sodium channel beta-3 subunit							119.0	115.0	116.0					11																	123516385		2202	4299	6501	SO:0001819	synonymous_variant	55800				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity	g.chr11:123516385C>G	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.129G>C	11.37:g.123516385C>G						SCN3B_uc001pzb.1_Silent_p.L43L	p.L43L	NM_001040151	NP_001035241	Q9NY72	SCN3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	3	536	-		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	43			Ig-like C2-type.|Extracellular (Potential).		A5H1I5|Q17RL3|Q9ULR2	Silent	SNP	ENST00000392770.2	37	c.129G>C	CCDS8442.1																																																																																				PASS	0.577	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400		24	94	24	94	---	---	---	---
NTM	50863	broad.mit.edu	37	11	131781460	131781460	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:131781460G>T	ENST00000374786.1	+	1	564	c.85G>T	c.(85-87)Gtg>Ttg	p.V29L	NTM_ENST00000374791.3_Missense_Mutation_p.V29L|NTM_ENST00000427481.2_Missense_Mutation_p.V20L|NTM_ENST00000539799.1_Missense_Mutation_p.V29L|NTM_ENST00000425719.2_Missense_Mutation_p.V29L|NTM_ENST00000374784.1_Missense_Mutation_p.V29L	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	29					cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V29L(2)		breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	56						ACCCACAGGAGTGCCCGTGCG	0.617											OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qgp.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(85-87)GTG>TTG		neurotrimin isoform 1							92.0	86.0	88.0					11																	131781460		2200	4275	6475	SO:0001583	missense	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:131781460G>T	AF126426	CCDS8491.1, CCDS41733.1, CCDS44777.1, CCDS44778.1	11q25	2013-01-11			ENSG00000182667	ENSG00000182667		"""Immunoglobulin superfamily / I-set domain containing"""	17941	protein-coding gene	gene with protein product	"""neurotrimin"", ""IgLON family member 2"""	607938				7891157	Standard	NM_001048209		Approved	HNT, NTRI, IGLON2	uc001qgq.3	Q9P121	OTTHUMG00000066364	ENST00000374786.1:c.85G>T	11.37:g.131781460G>T	ENSP00000363918:p.Val29Leu		OREG0021537	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1590	NTM_uc001qgm.2_Missense_Mutation_p.V29L|NTM_uc010sch.1_Missense_Mutation_p.V20L|NTM_uc010sci.1_Missense_Mutation_p.V29L|NTM_uc010scj.1_5'UTR|NTM_uc001qgo.2_Missense_Mutation_p.V29L|NTM_uc001qgq.2_Missense_Mutation_p.V29L	p.V29L	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			1	749	+			29					A0MTT2|Q6UXJ3|Q86VJ9	Missense_Mutation	SNP	ENST00000374786.1	37	c.85G>T	CCDS8491.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208539	0.39003	.	.	ENSG00000182667	ENST00000374791;ENST00000436745;ENST00000539799;ENST00000550167;ENST00000427481;ENST00000374786;ENST00000425719;ENST00000374784	T;T;T;T;T;T;T	0.59224	0.34;0.35;0.28;0.28;0.35;0.32;0.3	5.28	5.28	0.74379	.	0.168464	0.39341	N	0.001384	T	0.43344	0.1243	N	0.20766	0.605	0.54753	D	0.999988	B;B;B;B;B;B	0.13145	0.004;0.002;0.0;0.0;0.001;0.007	B;B;B;B;B;B	0.14578	0.005;0.003;0.005;0.001;0.008;0.011	T	0.34403	-0.9830	10	0.10636	T	0.68	-8.6454	18.8959	0.92423	0.0:0.0:1.0:0.0	.	29;20;29;29;29;29	B7Z1Z5;B7Z1I4;Q9P121-4;Q9P121;Q9P121-3;Q9P121-2	.;.;.;NTRI_HUMAN;.;.	L	29;20;29;20;20;29;29;29	ENSP00000363923:V29L;ENSP00000437668:V29L;ENSP00000448104:V20L;ENSP00000416320:V20L;ENSP00000363918:V29L;ENSP00000396722:V29L;ENSP00000363916:V29L	ENSP00000363916:V29L	V	+	1	0	NTM	131286670	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.247000	0.95444	2.479000	0.83701	0.561000	0.74099	GTG		PASS	0.617	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		22	79	22	79	---	---	---	---
KCNA6	3742	broad.mit.edu	37	12	4919972	4919972	+	Silent	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:4919972G>T	ENST00000280684.3	+	1	1631	c.765G>T	c.(763-765)ggG>ggT	p.G255G	KCNA6_ENST00000433855.1_Silent_p.G255G|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	255					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)|voltage-gated potassium channel activity (GO:0005249)	p.G255G(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GTACTCTTGGGGGCTCCTTCT	0.557										HNSCC(72;0.22)																												uc001qng.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(763-765)GGG>GGT		potassium voltage-gated channel, shaker-related							86.0	91.0	89.0					12																	4919972		2203	4300	6503	SO:0001819	synonymous_variant	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919972G>T	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.765G>T	12.37:g.4919972G>T		HNSCC(72;0.22)					p.G255G	NM_002235	NP_002226	P17658	KCNA6_HUMAN			1	1631	+			255						Silent	SNP	ENST00000280684.3	37	c.765G>T	CCDS8534.1																																																																																				PASS	0.557	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		28	92	28	92	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6131150	6131150	+	Missense_Mutation	SNP	G	G	T	rs372171661		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:6131150G>T	ENST00000261405.5	-	27	3844	c.3590C>A	c.(3589-3591)cCa>cAa	p.P1197Q		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1197					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P1197Q(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCACACACTGGACAGTCTTC	0.512																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(3589-3591)CCA>CAA		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						141.0	148.0	145.0					12																	6131150		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6131150G>T		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.3590C>A	12.37:g.6131150G>T	ENSP00000261405:p.Pro1197Gln					VWF_uc010set.1_Intron	p.P1197Q	NM_000552	NP_000543	P04275	VWF_HUMAN			27	3840	-			1197					Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.3590C>A	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	11.88	1.771209	0.31320	.	.	ENSG00000110799	ENST00000261405	T	0.34859	1.34	4.74	4.74	0.60224	.	0.000000	0.40144	N	0.001174	T	0.35537	0.0935	L	0.55990	1.75	0.80722	D	1	B	0.22909	0.077	B	0.17979	0.02	T	0.10870	-1.0611	10	0.28530	T	0.3	.	17.2455	0.87027	0.0:0.0:1.0:0.0	.	1197	P04275	VWF_HUMAN	Q	1197	ENSP00000261405:P1197Q	ENSP00000261405:P1197Q	P	-	2	0	VWF	6001411	1.000000	0.71417	0.940000	0.37924	0.169000	0.22640	5.385000	0.66231	2.624000	0.88883	0.484000	0.47621	CCA		PASS	0.512	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		47	167	47	167	---	---	---	---
EPS8	2059	broad.mit.edu	37	12	15813567	15813567	+	Silent	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:15813567A>G	ENST00000281172.5	-	10	1354	c.918T>C	c.(916-918)ggT>ggC	p.G306G	EPS8_ENST00000543612.1_Silent_p.G306G|EPS8_ENST00000543523.1_Silent_p.G306G|EPS8_ENST00000540613.1_Silent_p.G46G|EPS8_ENST00000542903.1_Silent_p.G46G	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	306					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.G306G(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTTTCCTTTTACCTTTCTTGT	0.393																																						uc009zif.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(916-918)GGT>GGC		epidermal growth factor receptor pathway							120.0	115.0	117.0					12																	15813567		2203	4300	6503	SO:0001819	synonymous_variant	2059				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity	g.chr12:15813567A>G	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.918T>C	12.37:g.15813567A>G						EPS8_uc001rdb.2_Silent_p.G306G|EPS8_uc009zig.2_Silent_p.G46G|EPS8_uc010shv.1_Silent_p.G46G	p.G306G	NM_004447	NP_004438	Q12929	EPS8_HUMAN		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)	10	1012	-		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)	306					A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	37	c.918T>C	CCDS31753.1																																																																																				PASS	0.393	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			22	81	22	81	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20801620	20801620	+	Splice_Site	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:20801620A>T	ENST00000359062.3	+	13	2605		c.e13-1		PDE3A_ENST00000544307.1_Splice_Site	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)	p.?(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	TTATTTGCCTAGGCGGTGCTA	0.348																																						uc001reh.1																			1	Unknown(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.e13-2		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						106.0	104.0	105.0					12																	20801620		2203	4300	6503	SO:0001630	splice_region_variant	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20801620A>T		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2566-1A>T	12.37:g.20801620A>T							p.A856_splice	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			13	2588	+	Esophageal squamous(101;0.125)	Breast(259;0.134)						O60865|Q13348|Q17RD1	Splice_Site	SNP	ENST00000359062.3	37	c.2566_splice	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	A	18.53	3.644833	0.67358	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0709	0.80928	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE3A	20692887	1.000000	0.71417	0.933000	0.37362	0.664000	0.39144	8.902000	0.92568	2.198000	0.70561	0.528000	0.53228	.		PASS	0.348	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		Intron	19	82	19	82	---	---	---	---
CAPRIN2	65981	broad.mit.edu	37	12	30873820	30873820	+	Silent	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:30873820T>C	ENST00000298892.5	-	12	2823	c.2073A>G	c.(2071-2073)tcA>tcG	p.S691S	CAPRIN2_ENST00000308433.5_Silent_p.S358S|CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000251071.5_Silent_p.S691S|CAPRIN2_ENST00000417045.1_Silent_p.S691S	NM_023925.3	NP_076414.2			caprin family member 2									p.S691S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGCAAGCATTTGAGCTACAAG	0.398																																						uc001rji.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2071-2073)TCA>TCG		C1q domain containing 1 isoform 1							94.0	97.0	96.0					12																	30873820		2203	4300	6503	SO:0001819	synonymous_variant	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30873820T>C	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2073A>G	12.37:g.30873820T>C						CAPRIN2_uc001rjf.1_Silent_p.S488S|CAPRIN2_uc001rjg.1_Silent_p.S358S|CAPRIN2_uc001rjh.1_Silent_p.S691S|CAPRIN2_uc001rjj.1_Silent_p.S358S|CAPRIN2_uc001rjk.3_Silent_p.S691S|CAPRIN2_uc001rjl.3_Intron|CAPRIN2_uc001rjm.1_Intron	p.S691S	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN			12	2824	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		691						Silent	SNP	ENST00000298892.5	37	c.2073A>G	CCDS8720.1																																																																																				PASS	0.398	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925		33	100	33	100	---	---	---	---
ADAMTS20	80070	broad.mit.edu	37	12	43826519	43826520	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:43826519_43826520CC>AA	ENST00000389420.3	-	20	2814_2815	c.2815_2816GG>TT	c.(2815-2817)GGa>TTa	p.G939L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G939L|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.G93L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	939	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G939*(1)|p.G939L(1)|p.G939V(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AACAGTCTGTCCTTCATGAATG	0.421																																						uc010skx.1																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(3)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(2815-2817)GGA>GTA|c.(2815-2817)GGA>TGA		a disintegrin-like and metalloprotease with																																				SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43826519C>A|g.chr12:43826520C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.2815_2816delinsAA	12.37:g.43826519_43826520delinsAA	ENSP00000374071:p.Gly939Leu					ADAMTS20_uc001rno.1_Missense_Mutation_p.G93V|ADAMTS20_uc001rnp.1_Missense_Mutation_p.G93V|ADAMTS20_uc001rno.1_Nonsense_Mutation_p.G93*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.G93*	p.G939V|p.G939*	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	20	2816|2815	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	939			TSP type-1 3.		A6NNC9|J3QT00	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000389420.3	37	c.2816G>T|c.2815G>T	CCDS31778.2																																																																																				PASS	0.421	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		30|28	130|137	28	130	---	---	---	---
TWF1	5756	broad.mit.edu	37	12	44196114	44196114	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:44196114A>G	ENST00000395510.2	-	3	386	c.257T>C	c.(256-258)aTt>aCt	p.I86T	TWF1_ENST00000325127.4_Missense_Mutation_p.I120T|TWF1_ENST00000548315.1_Missense_Mutation_p.I86T|TWF1_ENST00000547564.1_5'UTR|TWF1_ENST00000552521.1_5'UTR	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1	86	ADF-H 1. {ECO:0000255|PROSITE- ProRule:PRU00599}.				barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.I86T(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		AGACCATGCAATGAATATCCA	0.318																																						uc001rob.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)	1						c.(358-360)ATT>ACT		twinfilin 1							50.0	54.0	53.0					12																	44196114		2203	4300	6503	SO:0001583	missense	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44196114A>G	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.257T>C	12.37:g.44196114A>G	ENSP00000378886:p.Ile86Thr					TWF1_uc001rnz.2_5'UTR|TWF1_uc001roa.2_Missense_Mutation_p.I120T|TWF1_uc001roc.2_5'UTR	p.I120T	NM_002822	NP_002813	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	3	387	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	86			ADF-H 1.		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Missense_Mutation	SNP	ENST00000395510.2	37	c.359T>C	CCDS31780.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.294333	0.81025	.	.	ENSG00000151239	ENST00000395510;ENST00000325127;ENST00000548315;ENST00000546662;ENST00000548403	T;T;T;T;T	0.45668	0.89;0.89;0.89;1.08;1.08	4.98	4.98	0.66077	Actin-binding, cofilin/tropomyosin type (3);	0.173055	0.52532	D	0.000079	T	0.72518	0.3470	M	0.93898	3.47	0.80722	D	1	D;D	0.65815	0.989;0.995	D;D	0.72338	0.93;0.977	T	0.81143	-0.1067	10	0.87932	D	0	-14.4548	14.9433	0.71012	1.0:0.0:0.0:0.0	.	86;86	Q12792-3;Q12792	.;TWF1_HUMAN	T	86;120;86;124;60	ENSP00000378886:I86T;ENSP00000321058:I120T;ENSP00000449428:I86T;ENSP00000448221:I124T;ENSP00000446696:I60T	ENSP00000321058:I120T	I	-	2	0	TWF1	42482381	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.212000	0.95126	1.977000	0.57605	0.482000	0.46254	ATT		PASS	0.318	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822		26	76	26	76	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49445464	49445464	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:49445464C>A	ENST00000301067.7	-	10	2001	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	668	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E668*(2)|p.E667_E668>D*(2)									AAGGGAGATTCCTCAGGCGGT	0.642																																						uc001rta.3										N|F|Mis							medulloblastoma|renal		4	Substitution - Nonsense(2)|Complex - compound substitution(2)		lung(4)	kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(2002-2004)GAA>TAA		myeloid/lymphoid or mixed-lineage leukemia 2							45.0	52.0	50.0					12																	49445464		2125	4213	6338	SO:0001587	stop_gained	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49445464C>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2002G>T	12.37:g.49445464C>A	ENSP00000301067:p.Glu668*	HNSCC(34;0.089)					p.E668*	NM_003482	NP_003473	O14686	MLL2_HUMAN			10	2002	-			668			15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.		O14687	Nonsense_Mutation	SNP	ENST00000301067.7	37	c.2002G>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	39	7.490684	0.98316	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.22	3.25	0.37280	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.9411	0.52901	0.0:0.8225:0.1775:0.0	.	.	.	.	X	668	.	ENSP00000301067:E668X	E	-	1	0	MLL2	47731731	0.000000	0.05858	0.929000	0.37066	0.963000	0.63663	0.190000	0.17057	2.374000	0.81015	0.313000	0.20887	GAA		PASS	0.642	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	77	11	77	---	---	---	---
ARHGAP9	64333	broad.mit.edu	37	12	57866396	57866396	+	Silent	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:57866396C>A	ENST00000356411.2	-	18	2295	c.2157G>T	c.(2155-2157)cgG>cgT	p.R719R	ARHGAP9_ENST00000393791.3_Silent_p.R700R|ARHGAP9_ENST00000430041.2_Silent_p.R516R|ARHGAP9_ENST00000393797.2_Silent_p.R790R|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000550288.1_3'UTR			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	719	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				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)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.R719R(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			CCTGCTCTGGCCGAAACAGGG	0.557																																						uc001sod.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(2368-2370)CGG>CGT		Rho GTPase activating protein 9 isoform 1							94.0	75.0	82.0					12																	57866396		2203	4300	6503	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57866396C>A	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.2157G>T	12.37:g.57866396C>A						ARHGAP9_uc001sny.2_RNA|ARHGAP9_uc001snz.2_Silent_p.R516R|ARHGAP9_uc001soa.2_Silent_p.R389R|ARHGAP9_uc001sob.2_3'UTR|ARHGAP9_uc001soc.2_Silent_p.R700R	p.R790R	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		21	2563	-			719			Rho-GAP.		B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.2370G>T		.	.	.	.	.	.	.	.	.	.	c	8.539	0.872830	0.17322	.	.	ENSG00000123329	ENST00000550399	.	.	.	4.74	-3.11	0.05299	.	.	.	.	.	T	0.48295	0.1492	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40831	-0.9542	4	.	.	.	.	6.0104	0.19571	0.0:0.3124:0.2372:0.4504	.	.	.	.	V	125	.	.	G	-	2	0	ARHGAP9	56152663	0.036000	0.19791	0.886000	0.34754	0.973000	0.67179	-1.015000	0.03637	-0.615000	0.05679	-0.744000	0.03518	GGC		PASS	0.557	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		16	57	16	57	---	---	---	---
AGAP2	116986	broad.mit.edu	37	12	58125404	58125404	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:58125404C>T	ENST00000547588.1	-	9	1974	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	AGAP2_ENST00000257897.3_Missense_Mutation_p.E323K	NM_001122772.2	NP_001116244.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	659					axon guidance (GO:0007411)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|zinc ion binding (GO:0008270)	p.E659K(1)|p.E323K(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CTTCGTTTCTCGGAGTCACTA	0.522																																						uc001spq.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(3)|breast(2)	5						c.(1975-1977)GAG>AAG		centaurin, gamma 1 isoform PIKE-L							81.0	68.0	72.0					12																	58125404		2203	4300	6503	SO:0001583	missense	116986				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr12:58125404C>T	AF413077	CCDS8951.1, CCDS44932.1	12q13.2	2013-05-30	2008-09-22	2008-09-22	ENSG00000135439	ENSG00000135439		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16921	protein-coding gene	gene with protein product		605476	"""centaurin, gamma 1"""	CENTG1			Standard	NM_001122772		Approved		uc001spq.3	Q99490	OTTHUMG00000170285	ENST00000547588.1:c.1975G>A	12.37:g.58125404C>T	ENSP00000449241:p.Glu659Lys					AGAP2_uc001spp.2_Missense_Mutation_p.E659K|AGAP2_uc001spr.2_Missense_Mutation_p.E323K	p.E659K	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN			9	1975	-			659					A8K9F7|O00578|Q548E0|Q8IWU3	Missense_Mutation	SNP	ENST00000547588.1	37	c.1975G>A	CCDS44932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.88|13.88	2.368006|2.368006	0.42003|0.42003	.|.	.|.	ENSG00000135439|ENSG00000135439	ENST00000257897;ENST00000547588;ENST00000549129|ENST00000328568	T;T|.	0.35605|.	1.45;1.3|.	4.9|4.9	4.9|4.9	0.64082|0.64082	.|.	0.639855|.	0.14949|.	N|.	0.289051|.	T|T	0.59918|0.59918	0.2229|0.2229	L|L	0.38175|0.38175	1.15|1.15	0.58432|0.58432	D|D	0.999991|0.999991	P;D;P|.	0.54964|.	0.867;0.969;0.771|.	B;P;B|.	0.45232|.	0.335;0.474;0.087|.	T|T	0.54289|0.54289	-0.8316|-0.8316	10|5	0.54805|.	T|.	0.06|.	.|.	17.3923|17.3923	0.87435|0.87435	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	323;659;659|.	Q99490-2;F8VVT9;Q99490|.	.;.;AGAP2_HUMAN|.	K|Q	323;659;15|522	ENSP00000257897:E323K;ENSP00000449241:E659K|.	ENSP00000257897:E323K|.	E|R	-|-	1|2	0|0	AGAP2|AGAP2	56411671|56411671	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.310000|0.310000	0.27922|0.27922	4.162000|4.162000	0.58177|0.58177	2.736000|2.736000	0.93811|0.93811	0.655000|0.655000	0.94253|0.94253	GAG|CGA		PASS	0.522	AGAP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408367.1	NM_014770		13	68	13	68	---	---	---	---
ZDHHC17	23390	broad.mit.edu	37	12	77202834	77202834	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:77202834C>T	ENST00000426126.2	+	4	981	c.332C>T	c.(331-333)tCg>tTg	p.S111L	ZDHHC17_ENST00000334822.5_Missense_Mutation_p.S111L|ZDHHC17_ENST00000359019.4_Missense_Mutation_p.S61L	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	111					lipoprotein transport (GO:0042953)|magnesium ion transport (GO:0015693)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein palmitoylation (GO:0018345)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	identical protein binding (GO:0042802)|magnesium ion transmembrane transporter activity (GO:0015095)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.S111L(1)		breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TACTATATTTCGAAAGGTGCT	0.289																																						uc001syk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(331-333)TCG>TTG		huntingtin interacting protein 14							55.0	51.0	52.0					12																	77202834		1782	4056	5838	SO:0001583	missense	23390				lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding	g.chr12:77202834C>T	AB023163	CCDS44946.1	12q21.2	2013-01-10				ENSG00000186908		"""Zinc fingers, DHHC-type"", ""Ankyrin repeat domain containing"""	18412	protein-coding gene	gene with protein product		607799				9700202, 18794299	Standard	NM_015336		Approved	HIP14, HYPH, KIAA0946	uc001syk.1	Q8IUH5	OTTHUMG00000169917	ENST00000426126.2:c.332C>T	12.37:g.77202834C>T	ENSP00000403397:p.Ser111Leu					ZDHHC17_uc001syi.1_RNA|ZDHHC17_uc001syj.2_RNA	p.S111L	NM_015336	NP_056151	Q8IUH5	ZDH17_HUMAN			4	495	+			111			ANK 1.|Cytoplasmic (Potential).		B4DR39|O75407|Q7Z2I0|Q86W89|Q86YK0|Q9P088|Q9UPZ8	Missense_Mutation	SNP	ENST00000426126.2	37	c.332C>T	CCDS44946.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644880	0.87859	.	.	ENSG00000186908	ENST00000426126;ENST00000334822;ENST00000359019;ENST00000549682	T;T;T;T	0.67345	0.49;0.49;0.49;-0.26	5.1	5.1	0.69264	Ankyrin repeat-containing domain (4);	0.146051	0.52532	N	0.000072	T	0.79747	0.4499	M	0.64676	1.99	0.80722	D	1	D	0.76494	0.999	D	0.68621	0.959	T	0.78570	-0.2153	10	0.45353	T	0.12	-6.7366	19.0618	0.93096	0.0:1.0:0.0:0.0	.	111	Q8IUH5	ZDH17_HUMAN	L	111;111;61;88	ENSP00000403397:S111L;ENSP00000334868:S111L;ENSP00000351913:S61L;ENSP00000450295:S88L	ENSP00000334868:S111L	S	+	2	0	ZDHHC17	75726965	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.930000	0.56522	2.794000	0.96219	0.650000	0.86243	TCG		PASS	0.289	ZDHHC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406555.1	NM_015336		6	24	6	24	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78362453	78362453	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:78362453G>T	ENST00000397909.2	+	5	815	c.642G>T	c.(640-642)caG>caT	p.Q214H	NAV3_ENST00000266692.7_Missense_Mutation_p.Q214H|NAV3_ENST00000228327.6_Missense_Mutation_p.Q214H|NAV3_ENST00000536525.2_Missense_Mutation_p.Q214H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	214						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.Q214H(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						AAGCCAGCCAGGCCAAAACCC	0.443										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.(640-642)CAG>CAT		neuron navigator 3							53.0	55.0	54.0					12																	78362453		1966	4169	6135	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362453G>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.642G>T	12.37:g.78362453G>T	ENSP00000381007:p.Gln214His	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.Q214H	p.Q214H	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			5	815	+			214					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.642G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.50|14.50	2.554087|2.554087	0.45487|0.45487	.|.	.|.	ENSG00000067798|ENSG00000067798	ENST00000550503|ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	.|T;T;T;T;T	.|0.60299	.|0.2;0.2;0.2;0.2;0.2	5.85|5.85	4.96|4.96	0.65561|0.65561	.|Calponin homology domain (1);	.|0.000000	.|0.36519	.|U	.|0.002543	T|T	0.31949|0.31949	0.0813|0.0813	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|B;B	.|0.23442	.|0.085;0.0	.|B;B	.|0.17098	.|0.017;0.001	T|T	0.13710|0.13710	-1.0499|-1.0499	5|10	.|0.36615	.|T	.|0.2	-12.7479|-12.7479	9.8629|9.8629	0.41125|0.41125	0.0689:0.0:0.7909:0.1402|0.0689:0.0:0.7909:0.1402	.|.	.|214;214	.|Q8IVL0;Q8IVL0-2	.|NAV3_HUMAN;.	C|H	61|214	.|ENSP00000446628:Q214H;ENSP00000446132:Q214H;ENSP00000381007:Q214H;ENSP00000228327:Q214H;ENSP00000266692:Q214H	.|ENSP00000228327:Q214H	G|Q	+|+	1|3	0|2	NAV3|NAV3	76886584|76886584	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.715000|0.715000	0.41141|0.41141	3.506000|3.506000	0.53364|0.53364	1.473000|1.473000	0.48159|0.48159	0.637000|0.637000	0.83480|0.83480	GGC|CAG		PASS	0.443	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		9	32	9	32	---	---	---	---
PPFIA2	8499	broad.mit.edu	37	12	81747098	81747098	+	Missense_Mutation	SNP	G	G	T	rs375047499		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:81747098G>T	ENST00000549396.1	-	17	1954	c.1794C>A	c.(1792-1794)caC>caA	p.H598Q	PPFIA2_ENST00000541570.2_Missense_Mutation_p.H165Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.H524Q|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000550359.2_Missense_Mutation_p.H445Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.H580Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.H598Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.H580Q|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.H598Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.H499Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.H598Q	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	598					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.H598Q(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TATTCCACTCGTGATCCCCAA	0.358																																						uc001szo.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(2)|pancreas(1)	6						c.(1792-1794)CAC>CAA		PTPRF interacting protein alpha 2							113.0	105.0	107.0					12																	81747098		1868	4108	5976	SO:0001583	missense	8499							g.chr12:81747098G>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1794C>A	12.37:g.81747098G>T	ENSP00000450337:p.His598Gln					PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA	p.H598Q	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			17	1955	-			524					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.1794C>A	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	0.493	-0.874410	0.02550	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.07444	3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19;3.19	5.44	4.29	0.51040	.	0.054932	0.64402	D	0.000001	T	0.02304	0.0071	N	0.00926	-1.1	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.36962	-0.9726	10	0.02654	T	1	-12.8551	10.1642	0.42871	0.86:0.0:0.14:0.0	.	598	O75334	LIPA2_HUMAN	Q	598;580;165;524;609;580;598;499;598;179	ENSP00000450337:H598Q;ENSP00000450298:H580Q;ENSP00000438337:H165Q;ENSP00000385093:H524Q;ENSP00000327416:H580Q;ENSP00000449338:H598Q;ENSP00000388373:H499Q;ENSP00000447868:H598Q;ENSP00000448941:H179Q	ENSP00000327416:H580Q	H	-	3	2	PPFIA2	80271229	0.972000	0.33761	1.000000	0.80357	0.985000	0.73830	0.309000	0.19332	0.879000	0.35944	-0.385000	0.06624	CAC		PASS	0.358	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			7	42	7	42	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88471624	88471624	+	Missense_Mutation	SNP	T	T	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:88471624T>G	ENST00000552810.1	-	40	5779	c.5436A>C	c.(5434-5436)gaA>gaC	p.E1812D	CEP290_ENST00000309041.7_Missense_Mutation_p.E1814D|CEP290_ENST00000397838.3_Missense_Mutation_p.E872D|CEP290_ENST00000547691.2_Missense_Mutation_p.E872D	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	1812					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.E1814D(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TTAGTGAGTTTTCTCTGTTTT	0.254																																						uc001tar.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)|pancreas(1)	7						c.(5434-5436)GAA>GAC		centrosomal protein 290kDa							64.0	55.0	57.0					12																	88471624		1765	4021	5786	SO:0001583	missense	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88471624T>G	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.5436A>C	12.37:g.88471624T>G	ENSP00000448012:p.Glu1812Asp					CEP290_uc001taq.2_Missense_Mutation_p.E872D	p.E1812D	NM_025114	NP_079390	O15078	CE290_HUMAN			40	5780	-			1812			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	ENST00000552810.1	37	c.5436A>C	CCDS55858.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452041	0.63290	.	.	ENSG00000198707	ENST00000547691;ENST00000552810;ENST00000309041;ENST00000397838	T;T;T;T	0.69435	0.22;-0.4;-0.4;0.22	5.57	2.86	0.33363	.	0.000000	0.85682	D	0.000000	T	0.74419	0.3714	M	0.74881	2.28	0.39448	D	0.967359	D	0.89917	1.0	D	0.83275	0.996	T	0.72613	-0.4240	10	0.12766	T	0.61	.	6.2886	0.21047	0.0:0.3513:0.0:0.6487	.	1812	O15078	CE290_HUMAN	D	872;1812;1814;872	ENSP00000446905:E872D;ENSP00000448012:E1812D;ENSP00000308021:E1814D;ENSP00000380938:E872D	ENSP00000308021:E1814D	E	-	3	2	CEP290	86995755	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	0.570000	0.23653	0.937000	0.37394	0.377000	0.23210	GAA		PASS	0.254	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		4	15	4	15	---	---	---	---
SOCS2	8835	broad.mit.edu	37	12	93968918	93968918	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:93968918T>A	ENST00000340600.2	+	3	1158	c.560T>A	c.(559-561)cTa>cAa	p.L187Q	SOCS2_ENST00000549122.1_Missense_Mutation_p.L187Q|SOCS2_ENST00000548537.1_3'UTR|SOCS2_ENST00000551556.1_Missense_Mutation_p.L187Q|SOCS2_ENST00000536696.2_Missense_Mutation_p.L187Q|SOCS2_ENST00000549206.1_Missense_Mutation_p.L187Q	NM_001270468.1|NM_001270469.1|NM_001270471.1|NM_003877.4	NP_001257397.1|NP_001257398.1|NP_001257400.1|NP_003868.1	O14508	SOCS2_HUMAN	suppressor of cytokine signaling 2	187	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to hormone stimulus (GO:0032870)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of signal transduction (GO:0009967)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of signal transduction (GO:0009966)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	growth hormone receptor binding (GO:0005131)|insulin-like growth factor receptor binding (GO:0005159)|JAK pathway signal transduction adaptor activity (GO:0008269)|SH3/SH2 adaptor activity (GO:0005070)	p.L187Q(1)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						CCAACAAGACTAAAAGATTAC	0.403																																						uc001tcw.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(559-561)CTA>CAA		suppressor of cytokine signaling-2							54.0	51.0	52.0					12																	93968918		2203	4300	6503	SO:0001583	missense	8835				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity	g.chr12:93968918T>A	AF037989	CCDS9047.1	12q	2013-02-14			ENSG00000120833	ENSG00000120833		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19382	protein-coding gene	gene with protein product	"""STAT-induced STAT inhibitor-2"""	605117				9344848, 9266833	Standard	NM_003877		Approved	STATI2, SSI2, SOCS-2, SSI-2, CIS2, Cish2	uc031qjc.1	O14508		ENST00000340600.2:c.560T>A	12.37:g.93968918T>A	ENSP00000339428:p.Leu187Gln					SOCS2_uc001tcx.1_Missense_Mutation_p.L187Q|SOCS2_uc009zsu.2_3'UTR|SOCS2_uc001tcy.1_Missense_Mutation_p.L187Q|SOCS2_uc001tcz.2_3'UTR	p.L187Q	NM_003877	NP_003868	O14508	SOCS2_HUMAN			3	1150	+			187			SOCS box.		A8K3D1|O14542|O95102|Q9UKS5	Missense_Mutation	SNP	ENST00000340600.2	37	c.560T>A	CCDS9047.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.753502	0.69648	.	.	ENSG00000120833	ENST00000340600;ENST00000549206;ENST00000536696;ENST00000539385;ENST00000549122;ENST00000551556	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	5.84	5.84	0.93424	SOCS protein, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.87752	0.6256	H	0.96489	3.83	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91572	0.5272	10	0.87932	D	0	-2.5992	16.2108	0.82158	0.0:0.0:0.0:1.0	.	187	O14508	SOCS2_HUMAN	Q	187;187;187;135;187;187	ENSP00000339428:L187Q;ENSP00000448815:L187Q;ENSP00000442898:L187Q;ENSP00000447161:L187Q;ENSP00000449227:L187Q	ENSP00000339428:L187Q	L	+	2	0	SOCS2	92493049	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	6.033000	0.70925	2.232000	0.73038	0.533000	0.62120	CTA		PASS	0.403	SOCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407731.2			8	44	8	44	---	---	---	---
NUP37	79023	broad.mit.edu	37	12	102471172	102471172	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:102471172C>A	ENST00000552283.1	-	7	789	c.650G>T	c.(649-651)tGc>tTc	p.C217F	RP11-554E23.4_ENST00000552707.1_RNA|NUP37_ENST00000251074.1_Missense_Mutation_p.C217F|NUP37_ENST00000543021.1_5'Flank			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	217					carbohydrate metabolic process (GO:0005975)|chromosome segregation (GO:0007059)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)|nucleus (GO:0005634)		p.C217F(1)		endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						GTTTTTTAAGCACCAGTGTGC	0.393																																						uc001tjc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(649-651)TGC>TTC		nucleoporin 37kDa							148.0	148.0	148.0					12																	102471172		2203	4300	6503	SO:0001583	missense	79023				carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding	g.chr12:102471172C>A	AF514994	CCDS9089.1	12q23.2	2014-08-12			ENSG00000075188	ENSG00000075188		"""WD repeat domain containing"""	29929	protein-coding gene	gene with protein product		609264				12196509	Standard	NM_024057		Approved	MGC5585, FLJ22618	uc001tjc.3	Q8NFH4	OTTHUMG00000170478	ENST00000552283.1:c.650G>T	12.37:g.102471172C>A	ENSP00000448054:p.Cys217Phe					NUP37_uc009zub.1_Missense_Mutation_p.C217F	p.C217F	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN			6	715	-			217					Q9H644	Missense_Mutation	SNP	ENST00000552283.1	37	c.650G>T	CCDS9089.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755284	0.89843	.	.	ENSG00000075188	ENST00000552283;ENST00000251074	T;T	0.28454	1.61;1.61	6.17	6.17	0.99709	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.57315	0.2045	M	0.75447	2.3	0.80722	D	1	D	0.67145	0.996	P	0.61940	0.896	T	0.56486	-0.7971	10	0.87932	D	0	-10.4404	20.8794	0.99867	0.0:1.0:0.0:0.0	.	217	Q8NFH4	NUP37_HUMAN	F	217	ENSP00000448054:C217F;ENSP00000251074:C217F	ENSP00000251074:C217F	C	-	2	0	NUP37	100995302	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.232000	0.78116	2.941000	0.99782	0.655000	0.94253	TGC		PASS	0.393	NUP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409330.1	NM_024057		14	112	14	112	---	---	---	---
STAB2	55576	broad.mit.edu	37	12	103984805	103984805	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:103984805G>A	ENST00000388887.2	+	2	416	c.212G>A	c.(211-213)tGc>tAc	p.C71Y	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2									p.C71Y(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTTCGAGATTGCAGGTACTCA	0.468																																						uc001tjw.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(5)	14						c.(211-213)TGC>TAC		stabilin 2 precursor							115.0	111.0	113.0					12																	103984805		2203	4300	6503	SO:0001583	missense	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:103984805G>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.212G>A	12.37:g.103984805G>A	ENSP00000373539:p.Cys71Tyr						p.C71Y	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			2	398	+			71			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000388887.2	37	c.212G>A	CCDS31888.1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.561042	0.45590	.	.	ENSG00000136011	ENST00000388887	T	0.31769	1.48	6.02	5.12	0.69794	.	0.055834	0.64402	D	0.000001	T	0.63651	0.2529	H	0.94734	3.575	0.46521	D	0.999082	D	0.65815	0.995	P	0.62491	0.903	T	0.75300	-0.3366	10	0.87932	D	0	.	13.9301	0.63989	0.0:0.0:0.8476:0.1524	.	71	Q8WWQ8	STAB2_HUMAN	Y	71	ENSP00000373539:C71Y	ENSP00000373539:C71Y	C	+	2	0	STAB2	102508935	1.000000	0.71417	0.997000	0.53966	0.194000	0.23727	5.938000	0.70170	1.541000	0.49316	-0.182000	0.12963	TGC		PASS	0.468	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			30	81	30	81	---	---	---	---
TBX5	6910	broad.mit.edu	37	12	114804147	114804147	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:114804147A>T	ENST00000310346.4	-	8	1471	c.805T>A	c.(805-807)Tcc>Acc	p.S269T	TBX5_ENST00000349716.5_Missense_Mutation_p.S219T|TBX5_ENST00000526441.1_Missense_Mutation_p.S269T|TBX5_ENST00000405440.2_Missense_Mutation_p.S269T	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	269					apoptotic nuclear changes (GO:0030262)|atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His development (GO:0003166)|cardiac left ventricle formation (GO:0003218)|cardiac muscle cell differentiation (GO:0055007)|cell migration involved in coronary vasculogenesis (GO:0060980)|cell-cell signaling (GO:0007267)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|endocardial cushion development (GO:0003197)|forelimb morphogenesis (GO:0035136)|gene expression (GO:0010467)|heart development (GO:0007507)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pattern specification process (GO:0007389)|pericardium development (GO:0060039)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|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)|regulation of execution phase of apoptosis (GO:1900117)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle tissue development (GO:0003229)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S269T(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTGTGGTTGGAGGCCACTTTT	0.522																																					NSCLC(152;1358 1980 4050 23898 40356)	uc001tvo.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|pancreas(1)|skin(1)	8	GRCh37	CD004680	TBX5	D		c.(805-807)TCC>ACC		T-box 5 isoform 1							124.0	102.0	109.0					12																	114804147		2203	4300	6503	SO:0001583	missense	6910				cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr12:114804147A>T	U89353	CCDS9173.1, CCDS9174.1	12q24.1	2014-09-17			ENSG00000089225	ENSG00000089225		"""T-boxes"""	11604	protein-coding gene	gene with protein product		601620		HOS		8988165, 8054982	Standard	NM_000192		Approved		uc001tvo.4	Q99593	OTTHUMG00000166191	ENST00000310346.4:c.805T>A	12.37:g.114804147A>T	ENSP00000309913:p.Ser269Thr					TBX5_uc001tvp.2_Missense_Mutation_p.S269T|TBX5_uc001tvq.2_Missense_Mutation_p.S219T|TBX5_uc010syv.1_Missense_Mutation_p.S269T	p.S269T	NM_181486	NP_852259	Q99593	TBX5_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0893)	8	1300	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		269					A6ND77|O15301|Q96TB0|Q9Y4I2	Missense_Mutation	SNP	ENST00000310346.4	37	c.805T>A	CCDS9173.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.414135	0.62511	.	.	ENSG00000089225	ENST00000349716;ENST00000310346;ENST00000448888;ENST00000405440;ENST00000526441	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	5.52	3.04	0.35103	.	0.236887	0.44483	D	0.000456	D	0.83041	0.5168	M	0.80183	2.485	0.47308	D	0.999382	B;B	0.29862	0.259;0.181	B;B	0.42625	0.393;0.073	T	0.78919	-0.2014	10	0.33141	T	0.24	.	9.2204	0.37373	0.7945:0.1337:0.0717:0.0	.	269;269	Q99593-2;Q99593	.;TBX5_HUMAN	T	219;269;166;269;269	ENSP00000337723:S219T;ENSP00000309913:S269T;ENSP00000384152:S269T;ENSP00000433292:S269T	ENSP00000309913:S269T	S	-	1	0	TBX5	113288530	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.621000	0.61233	0.959000	0.37980	0.533000	0.62120	TCC		PASS	0.522	TBX5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388297.1	NM_080717		29	85	29	85	---	---	---	---
RPLP0	6175	broad.mit.edu	37	12	120637201	120637201	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:120637201G>A	ENST00000551150.1	-	2	457	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	RPLP0_ENST00000552292.1_5'Flank|RPLP0_ENST00000228306.4_Missense_Mutation_p.R48C|RPLP0_ENST00000313104.5_Missense_Mutation_p.R48C|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000542265.1_RNA|PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000550296.1_5'UTR|RPLP0_ENST00000392514.4_Missense_Mutation_p.R48C|RPLP0_ENST00000546989.1_Missense_Mutation_p.R48C|PXN-AS1_ENST00000535200.1_RNA|PXN-AS1_ENST00000538804.1_RNA			P05388	RLA0_HUMAN	ribosomal protein, large, P0	48					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)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.R48C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCTTCCCGCGAAGGGACATG	0.517																																						uc001txp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(142-144)CGC>TGC		ribosomal protein P0							95.0	83.0	87.0					12																	120637201		2203	4300	6503	SO:0001583	missense	6175				endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome	g.chr12:120637201G>A	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.142C>T	12.37:g.120637201G>A	ENSP00000449328:p.Arg48Cys					RPLP0_uc001txq.2_Missense_Mutation_p.R48C|RPLP0_uc001txr.2_Missense_Mutation_p.R48C|uc001txs.1_5'Flank	p.R48C	NM_053275	NP_444505	P05388	RLA0_HUMAN			3	379	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		48					Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	c.142C>T	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603180	0.87157	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000313104;ENST00000546989;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856;ENST00000547191;ENST00000550423;ENST00000551914	T;T;T;T;T;T;T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58;0.58	5.46	5.46	0.80206	.	0.069673	0.64402	U	0.000017	T	0.73210	0.3558	H	0.95402	3.665	0.80722	D	1	P;D	0.55385	0.901;0.971	P;P	0.47673	0.542;0.554	T	0.83194	-0.0082	10	0.72032	D	0.01	.	19.3132	0.94199	0.0:0.0:1.0:0.0	.	48;48	Q3B7A4;P05388	.;RLA0_HUMAN	C	48;48;48;48;48;48;28;48;34;34;48	ENSP00000376299:R48C;ENSP00000449328:R48C;ENSP00000366471:R48C;ENSP00000449205:R48C;ENSP00000339027:R48C;ENSP00000447311:R48C;ENSP00000449854:R28C;ENSP00000448046:R48C;ENSP00000450121:R34C;ENSP00000449765:R34C;ENSP00000448223:R48C	ENSP00000339027:R48C	R	-	1	0	RPLP0	119121584	1.000000	0.71417	0.985000	0.45067	0.951000	0.60555	7.856000	0.86956	2.587000	0.87381	0.655000	0.94253	CGC		PASS	0.517	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403448.3	NM_053275		11	68	11	68	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122803851	122803851	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:122803851C>T	ENST00000540338.1	-	17	3335	c.3294G>A	c.(3292-3294)atG>atA	p.M1098I	CLIP1_ENST00000302528.7_Missense_Mutation_p.M1087I|CLIP1_ENST00000537178.1_Missense_Mutation_p.M1052I|CLIP1_ENST00000361654.4_Missense_Mutation_p.M976I|CLIP1_ENST00000545889.1_Missense_Mutation_p.M673I|CLIP1_ENST00000358808.2_Missense_Mutation_p.M1087I			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1098					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.M1087I(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCTCTTTGGTCATCTGTTCCA	0.433																																						uc001ucg.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(3292-3294)ATG>ATA		restin isoform a							182.0	151.0	161.0					12																	122803851		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122803851C>T		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3294G>A	12.37:g.122803851C>T	ENSP00000439093:p.Met1098Ile					CLIP1_uc001uch.1_Missense_Mutation_p.M1087I|CLIP1_uc001uci.1_Missense_Mutation_p.M1052I|CLIP1_uc001ucj.1_Missense_Mutation_p.M673I	p.M1098I	NM_002956	NP_002947	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	17	3400	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1098			Potential.		A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.3294G>A	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968212	0.34754	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000392458;ENST00000537178;ENST00000540338	T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28	5.46	5.46	0.80206	.	0.164656	0.56097	D	0.000033	T	0.26521	0.0648	N	0.17082	0.46	0.45690	D	0.998605	B;B;B	0.15141	0.012;0.012;0.007	B;B;B	0.12156	0.007;0.007;0.003	T	0.03344	-1.1046	10	0.30854	T	0.27	-22.2917	17.8648	0.88793	0.0:1.0:0.0:0.0	.	1052;1087;1098	P30622-2;P30622-1;P30622	.;.;CLIP1_HUMAN	I	673;1087;1087;817;129;1052;1098	ENSP00000438743:M673I;ENSP00000303585:M1087I;ENSP00000351665:M1087I;ENSP00000445531:M1052I;ENSP00000439093:M1098I	ENSP00000303585:M1087I	M	-	3	0	CLIP1	121369804	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.047000	0.57383	2.726000	0.93360	0.655000	0.94253	ATG		PASS	0.433	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		6	45	6	45	---	---	---	---
SCARB1	949	broad.mit.edu	37	12	125302175	125302175	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:125302175A>T	ENST00000415380.2	-	2	330	c.205T>A	c.(205-207)Ttc>Atc	p.F69I	SCARB1_ENST00000261693.6_Missense_Mutation_p.F69I|SCARB1_ENST00000540495.1_Missense_Mutation_p.F32I|SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000339570.5_Missense_Mutation_p.F69I|SCARB1_ENST00000544327.1_Missense_Mutation_p.F15I|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000541205.1_Missense_Mutation_p.F28I|SCARB1_ENST00000546215.1_Missense_Mutation_p.F69I			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	69					adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.F69I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	ACGTCAAAGAAGTAGACGGAG	0.587																																						uc001ugo.3																			1	Substitution - Missense(1)		lung(1)	kidney(1)	1						c.(205-207)TTC>ATC		scavenger receptor class B, member 1 isoform 1	Phosphatidylserine(DB00144)						102.0	102.0	102.0					12																	125302175		2203	4300	6503	SO:0001583	missense	949				adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity	g.chr12:125302175A>T	Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.205T>A	12.37:g.125302175A>T	ENSP00000414979:p.Phe69Ile					SCARB1_uc001ugn.3_Missense_Mutation_p.F69I|SCARB1_uc001ugm.3_Missense_Mutation_p.F69I|SCARB1_uc010tbd.1_Missense_Mutation_p.F69I|SCARB1_uc010tbe.1_Missense_Mutation_p.F28I|SCARB1_uc001ugp.3_Missense_Mutation_p.F69I	p.F69I	NM_005505	NP_005496	Q8WTV0	SCRB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	2	458	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		69			Extracellular (Potential).		F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37	c.205T>A		.	.	.	.	.	.	.	.	.	.	A	12.46	1.943882	0.34283	.	.	ENSG00000073060	ENST00000339570;ENST00000415380;ENST00000261693;ENST00000546215;ENST00000541205;ENST00000544327;ENST00000540495;ENST00000545493	T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	5.44	5.44	0.79542	.	0.159146	0.56097	D	0.000027	T	0.64260	0.2582	L	0.39514	1.22	0.47949	D	0.999557	P;B;P;P;P;B	0.45569	0.861;0.426;0.861;0.861;0.63;0.373	P;B;P;P;B;B	0.47941	0.562;0.284;0.562;0.562;0.426;0.297	T	0.62334	-0.6876	10	0.28530	T	0.3	-45.7637	6.7491	0.23477	0.7912:0.0:0.0734:0.1355	.	28;69;69;69;69;69	B3KW46;B7ZKQ9;B4E3I1;Q8WTV0;F8W8N0;Q8WTV0-2	.;.;.;SCRB1_HUMAN;.;.	I	69;69;69;69;28;15;32;69	ENSP00000343795:F69I;ENSP00000414979:F69I;ENSP00000261693:F69I;ENSP00000442862:F69I;ENSP00000446107:F28I;ENSP00000444851:F15I;ENSP00000443286:F32I;ENSP00000443454:F69I	ENSP00000261693:F69I	F	-	1	0	SCARB1	123868128	1.000000	0.71417	1.000000	0.80357	0.255000	0.26057	4.452000	0.60054	2.069000	0.61940	0.454000	0.30748	TTC		PASS	0.587	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1	NM_005505		32	69	32	69	---	---	---	---
RIMBP2	23504	broad.mit.edu	37	12	130921587	130921587	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:130921587C>A	ENST00000261655.4	-	10	2018	c.1855G>T	c.(1855-1857)Gcc>Tcc	p.A619S	RIMBP2_ENST00000535703.1_Missense_Mutation_p.A527S|RIMBP2_ENST00000536002.1_Missense_Mutation_p.A527S	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	619	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A619S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCCATCCTGGCGTGGGGACCC	0.667																																						uc001uil.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1)	11						c.(1855-1857)GCC>TCC		RIM-binding protein 2							66.0	57.0	60.0					12																	130921587		2203	4300	6503	SO:0001583	missense	23504					cell junction|synapse		g.chr12:130921587C>A	AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.1855G>T	12.37:g.130921587C>A	ENSP00000261655:p.Ala619Ser					RIMBP2_uc001uim.2_Missense_Mutation_p.A527S|RIMBP2_uc001uin.1_Missense_Mutation_p.A278S	p.A619S	NM_015347	NP_056162	O15034	RIMB2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)	10	2019	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)	619			Pro-rich.		Q96ID2	Missense_Mutation	SNP	ENST00000261655.4	37	c.1855G>T	CCDS31925.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.493914	0.01009	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.19394	2.15;2.96;2.96	4.23	-2.05	0.07321	.	2.528880	0.01158	N	0.006570	T	0.08626	0.0214	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.10296	0.003;0.003;0.003	B;B;B	0.12156	0.002;0.007;0.001	T	0.22487	-1.0215	10	0.09084	T	0.74	.	4.7566	0.13086	0.2207:0.3515:0.0:0.4278	.	527;527;619	C9JWN3;O15034-2;O15034	.;.;RIMB2_HUMAN	S	619;527;527;527	ENSP00000261655:A619S;ENSP00000440347:A527S;ENSP00000439159:A527S	ENSP00000261655:A619S	A	-	1	0	RIMBP2	129487540	0.000000	0.05858	0.009000	0.14445	0.258000	0.26162	-0.349000	0.07731	-0.046000	0.13446	0.561000	0.74099	GCC		PASS	0.667	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399520.1	NM_015347		3	36	3	36	---	---	---	---
PXMP2	5827	broad.mit.edu	37	12	133272599	133272599	+	Silent	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr12:133272599C>T	ENST00000317479.3	+	3	431	c.366C>T	c.(364-366)ctC>ctT	p.L122L	RP13-672B3.2_ENST00000537262.1_Intron|PXMP2_ENST00000545677.1_Intron|PXMP2_ENST00000539093.1_Intron|PXMP2_ENST00000428960.2_Silent_p.L29L|PXMP2_ENST00000543589.1_Intron	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	122						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|protein complex (GO:0043234)		p.L122L(1)		large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		CGGCCTTCCTCATGTTGTTCT	0.532																																						uc001ukt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(364-366)CTC>CTT		peroxisomal membrane protein 2, 22kDa							90.0	87.0	88.0					12																	133272599		2203	4300	6503	SO:0001819	synonymous_variant	5827					integral to membrane|peroxisomal membrane	protein binding	g.chr12:133272599C>T		CCDS9279.1	12q24	2010-08-18	2002-08-29		ENSG00000176894	ENSG00000176894			9716	protein-coding gene	gene with protein product			"""peroxisomal membrane protein 2 (22kD)"""			11590176	Standard	NM_018663		Approved	PMP22	uc001ukt.3	Q9NR77	OTTHUMG00000168019	ENST00000317479.3:c.366C>T	12.37:g.133272599C>T						PGAM5_uc010tbr.1_Intron	p.L122L	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)	3	431	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		122			Helical; (Potential).			Silent	SNP	ENST00000317479.3	37	c.366C>T	CCDS9279.1																																																																																				PASS	0.532	PXMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397553.1	NM_018663		31	84	31	84	---	---	---	---
MTUS2	23281	broad.mit.edu	37	13	29608239	29608239	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr13:29608239G>T	ENST00000431530.3	+	2	2511	c.2453G>T	c.(2452-2454)aGt>aTt	p.S818I		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	808	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.S818I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACAGCCACCAGTCTCTACAGT	0.473																																						uc001usl.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2452-2454)AGT>ATT		hypothetical protein LOC23281 isoform a							100.0	103.0	102.0					13																	29608239		2108	4220	6328	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29608239G>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2453G>T	13.37:g.29608239G>T	ENSP00000392057:p.Ser818Ile						p.S818I	NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN			2	2511	+			808			Sufficient for interaction with KIF2C.|Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2453G>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.736938	0.49045	.	.	ENSG00000132938	ENST00000431530	T	0.16743	2.32	5.46	3.39	0.38822	.	0.248111	0.34411	N	0.003993	T	0.35566	0.0936	M	0.66939	2.045	0.58432	D	0.999997	D	0.76494	0.999	D	0.67548	0.952	T	0.08513	-1.0718	9	.	.	.	.	12.0825	0.53680	0.1654:0.0:0.8346:0.0	.	808	Q5JR59	MTUS2_HUMAN	I	818	ENSP00000392057:S818I	.	S	+	2	0	MTUS2	28506239	0.073000	0.21202	0.757000	0.31301	0.410000	0.31052	1.445000	0.35079	1.288000	0.44600	0.655000	0.94253	AGT		PASS	0.473	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		20	35	20	35	---	---	---	---
PCDH20	64881	broad.mit.edu	37	13	61986120	61986120	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr13:61986120C>A	ENST00000409186.1	-	5	4217	c.2112G>T	c.(2110-2112)caG>caT	p.Q704H	PCDH20_ENST00000409204.4_Missense_Mutation_p.Q704H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	704	Cadherin 5. {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)|poly(A) RNA binding (GO:0044822)	p.Q704H(1)|p.Q677H(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AGGAGCTTTGCTGCTCTCTGT	0.463																																						uc001vid.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2110-2112)CAG>CAT		protocadherin 20							96.0	103.0	101.0					13																	61986120		2203	4299	6502	SO:0001583	missense	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61986120C>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2112G>T	13.37:g.61986120C>A	ENSP00000386653:p.Gln704His					PCDH20_uc010thj.1_Missense_Mutation_p.Q704H	p.Q704H	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2476	-		Breast(118;0.195)|Prostate(109;0.229)	677			Cadherin 5.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	c.2112G>T	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	C	10.87	1.471483	0.26423	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.01767	4.65;4.65	5.94	4.92	0.64577	.	0.000000	0.64402	D	0.000012	T	0.05868	0.0153	L	0.51914	1.62	0.58432	D	0.999993	D	0.71674	0.998	D	0.68192	0.956	T	0.43196	-0.9406	10	0.33141	T	0.24	.	10.6368	0.45569	0.0:0.806:0.0:0.194	.	704	A8K1K9	.	H	704;704;450	ENSP00000387250:Q704H;ENSP00000386653:Q704H	ENSP00000351500:Q450H	Q	-	3	2	PCDH20	60884121	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	0.708000	0.25719	2.812000	0.96745	0.557000	0.71058	CAG		PASS	0.463	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		13	126	13	126	---	---	---	---
MYCBP2	23077	broad.mit.edu	37	13	77740591	77740591	+	Silent	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr13:77740591G>C	ENST00000544440.2	-	41	6116	c.6099C>G	c.(6097-6099)gtC>gtG	p.V2033V	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Silent_p.V2071V|MYCBP2_ENST00000357337.6_Silent_p.V2033V					MYC binding protein 2, E3 ubiquitin protein ligase									p.V2033V(2)|p.V2071V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAACAGTTCTGACAGGAATCA	0.398																																						uc001vkf.2																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1)	14						c.(6097-6099)GTC>GTG		MYC binding protein 2							120.0	115.0	117.0					13																	77740591		2203	4300	6503	SO:0001819	synonymous_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77740591G>C	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6099C>G	13.37:g.77740591G>C						MYCBP2_uc010aev.2_Silent_p.V1437V	p.V2033V	NM_015057	NP_055872	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	42	6190	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2033						Silent	SNP	ENST00000544440.2	37	c.6099C>G																																																																																					PASS	0.398	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		23	89	23	89	---	---	---	---
ZNF219	51222	broad.mit.edu	37	14	21558846	21558846	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr14:21558846G>C	ENST00000360947.3	-	5	2429	c.2018C>G	c.(2017-2019)gCt>gGt	p.A673G	RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.A673G|ZNF219_ENST00000556101.1_5'Flank|ZNF219_ENST00000451119.2_Missense_Mutation_p.A673G	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	673					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A673G(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GCGGCCCCTAGCCCGGCGGCT	0.706																																						uc001vzr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2017-2019)GCT>GGT		zinc finger protein 219							13.0	16.0	15.0					14																	21558846		2191	4292	6483	SO:0001583	missense	51222				negative regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|histamine receptor activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21558846G>C	AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.2018C>G	14.37:g.21558846G>C	ENSP00000354206:p.Ala673Gly					ZNF219_uc001vzs.2_Missense_Mutation_p.A673G|ZNF219_uc010aik.1_Missense_Mutation_p.A673G	p.A673G	NM_016423	NP_057507	Q9P2Y4	ZN219_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)	5	2439	-	all_cancers(95;0.00185)		673					D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	ENST00000360947.3	37	c.2018C>G	CCDS9568.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.353819	0.82243	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093	T;T;T	0.10288	2.89;2.89;2.89	5.18	5.18	0.71444	.	0.358973	0.27577	N	0.018755	T	0.07458	0.0188	L	0.27053	0.805	0.37105	D	0.900081	P	0.37781	0.608	B	0.29862	0.108	T	0.41698	-0.9494	10	0.25106	T	0.35	-8.998	14.199	0.65690	0.0:0.0:1.0:0.0	.	673	Q9P2Y4	ZN219_HUMAN	G	673	ENSP00000354206:A673G;ENSP00000388558:A673G;ENSP00000392401:A673G	ENSP00000354206:A673G	A	-	2	0	ZNF219	20628686	0.212000	0.23540	1.000000	0.80357	0.996000	0.88848	2.793000	0.47845	2.422000	0.82143	0.561000	0.74099	GCT		PASS	0.706	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073931.2			10	13	10	13	---	---	---	---
OR10G3	26533	broad.mit.edu	37	14	22038724	22038724	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr14:22038724G>T	ENST00000303532.1	-	1	151	c.152C>A	c.(151-153)gCa>gAa	p.A51E		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A51E(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)		CCTTGGGTCTGCCCAGACAGT	0.468																																						uc010tmb.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(151-153)GCA>GAA		olfactory receptor, family 10, subfamily G,							72.0	70.0	71.0					14																	22038724		2203	4300	6503	SO:0001583	missense	26533				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:22038724G>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.152C>A	14.37:g.22038724G>T	ENSP00000302437:p.Ala51Glu						p.A51E	NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN		GBM - Glioblastoma multiforme(265;0.0139)	1	152	-	all_cancers(95;0.000987)		51			Cytoplasmic (Potential).		Q6IET7|Q96R77	Missense_Mutation	SNP	ENST00000303532.1	37	c.152C>A	CCDS32046.1	.	.	.	.	.	.	.	.	.	.	G	10.56	1.384461	0.25031	.	.	ENSG00000169208	ENST00000303532	T	0.03152	4.03	4.33	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.601237	0.13653	N	0.372146	T	0.04679	0.0127	L	0.53617	1.68	0.09310	N	0.999996	B	0.25850	0.136	B	0.34038	0.174	T	0.38757	-0.9646	10	0.30854	T	0.27	-1.538	4.3668	0.11228	0.2572:0.1955:0.5473:0.0	.	51	Q8NGC4	O10G3_HUMAN	E	51	ENSP00000302437:A51E	ENSP00000302437:A51E	A	-	2	0	OR10G3	21108564	0.000000	0.05858	0.998000	0.56505	0.881000	0.50899	-0.032000	0.12266	0.868000	0.35678	0.585000	0.79938	GCA		PASS	0.468	OR10G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401521.1			16	26	16	26	---	---	---	---
SLC7A8	23428	broad.mit.edu	37	14	23596484	23596484	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr14:23596484T>C	ENST00000316902.7	-	11	2235	c.1510A>G	c.(1510-1512)Aca>Gca	p.T504A	SLC7A8_ENST00000469263.1_Missense_Mutation_p.D286G|SLC7A8_ENST00000453702.1_Missense_Mutation_p.T301A|SLC7A8_ENST00000529705.2_Missense_Mutation_p.T399A|SLC7A8_ENST00000422941.2_Missense_Mutation_p.T280A	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	504					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|metal ion homeostasis (GO:0055065)|neutral amino acid transport (GO:0015804)|organic cation transport (GO:0015695)|response to toxic substance (GO:0009636)|toxin transport (GO:1901998)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-amino acid transmembrane transporter activity (GO:0015179)|neutral amino acid transmembrane transporter activity (GO:0015175)|organic cation transmembrane transporter activity (GO:0015101)|peptide antigen binding (GO:0042605)|toxin transporter activity (GO:0019534)	p.T504A(1)		autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-DOPA(DB01235)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GCCTCCTCTGTCCCTGAGCCC	0.612																																						uc001wiz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1510-1512)ACA>GCA		solute carrier family 7 (cationic amino acid	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)						222.0	166.0	185.0					14																	23596484		2203	4300	6503	SO:0001583	missense	23428				blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity	g.chr14:23596484T>C	Y18483	CCDS9590.1, CCDS41924.1, CCDS58304.1, CCDS58305.1	14q11.2	2013-05-22	2011-07-12		ENSG00000092068	ENSG00000092068		"""Solute carriers"""	11066	protein-coding gene	gene with protein product		604235				10080183, 10391915	Standard	NM_001267036		Approved	LPI-PC1, LAT2	uc001wiz.4	Q9UHI5	OTTHUMG00000028720	ENST00000316902.7:c.1510A>G	14.37:g.23596484T>C	ENSP00000320378:p.Thr504Ala					SLC7A8_uc001wiw.2_Missense_Mutation_p.T121A|SLC7A8_uc001wix.2_Missense_Mutation_p.T301A|SLC7A8_uc010tnk.1_Missense_Mutation_p.T280A|SLC7A8_uc010tnl.1_Missense_Mutation_p.T399A|SLC7A8_uc001wiy.2_RNA|SLC7A8_uc010akj.2_Missense_Mutation_p.D286G	p.T504A	NM_012244	NP_036376	Q9UHI5	LAT2_HUMAN		GBM - Glioblastoma multiforme(265;0.00809)	11	2236	-	all_cancers(95;4.6e-05)		504					B2R8Q4|B4DKT4|B4DTV6|D3DS46|F2Z2J4|Q86U05|Q9UKQ6|Q9UKQ7|Q9UKQ8|Q9Y445	Missense_Mutation	SNP	ENST00000316902.7	37	c.1510A>G	CCDS9590.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.52|11.52	1.664533|1.664533	0.29604|0.29604	.|.	.|.	ENSG00000092068|ENSG00000092068	ENST00000469263;ENST00000206514|ENST00000316902;ENST00000453702;ENST00000529705;ENST00000422941	D|D;D;D;D	0.92495|0.89681	-3.05|-2.55;-2.07;-2.38;-2.06	4.61|4.61	-2.86|-2.86	0.05717|0.05717	.|.	.|2.160390	.|0.01467	.|N	.|0.016134	T|T	0.74336|0.74336	0.3703|0.3703	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B|B;B;B	0.02656|0.06786	0.0|0.001;0.001;0.0	B|B;B;B	0.01281|0.04013	0.0|0.001;0.001;0.0	T|T	0.66296|0.66296	-0.5959|-0.5959	9|10	0.42905|0.10902	T|T	0.14|0.67	.|.	5.6906|5.6906	0.17827|0.17827	0.0:0.4109:0.3088:0.2803|0.0:0.4109:0.3088:0.2803	.|.	286|399;280;504	E9PLV9|B4DKT4;B4DTV6;Q9UHI5	.|.;.;LAT2_HUMAN	G|A	286;300|504;301;399;280	ENSP00000435114:D286G|ENSP00000320378:T504A;ENSP00000391577:T301A;ENSP00000434345:T399A;ENSP00000416398:T280A	ENSP00000206514:D300G|ENSP00000320378:T504A	D|T	-|-	2|1	0|0	SLC7A8|SLC7A8	22666324|22666324	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.113000|0.113000	0.19764|0.19764	-0.421000|-0.421000	0.07053|0.07053	-0.525000|-0.525000	0.06391|0.06391	0.402000|0.402000	0.26972|0.26972	GAC|ACA		PASS	0.612	SLC7A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071718.3			26	48	26	48	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47504448	47504448	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr14:47504448T>C	ENST00000399232.2	-	8	1742	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	MDGA2_ENST00000357362.3_Missense_Mutation_p.T231A|MDGA2_ENST00000426342.1_Missense_Mutation_p.T231A|MDGA2_ENST00000439988.3_Missense_Mutation_p.T529A	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	460	Ig-like 5.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.T231A(2)|p.T529A(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						AGTTCTATTGTGTCTCCTTCT	0.388																																						uc001wwj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1378-1380)ACA>GCA		MAM domain containing 1 isoform 1							202.0	172.0	181.0					14																	47504448		1904	4123	6027	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47504448T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1378A>G	14.37:g.47504448T>C	ENSP00000382178:p.Thr460Ala					MDGA2_uc001wwi.3_Missense_Mutation_p.T231A|MDGA2_uc010ani.2_Missense_Mutation_p.T20A	p.T460A	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			8	1574	-			460			Ig-like 5.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1378A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.07|16.07	3.018447|3.018447	0.54576|0.54576	.|.	.|.	ENSG00000139915|ENSG00000139915	ENST00000554762|ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	.|T;T;T;T	.|0.30981	.|1.51;1.51;1.51;1.51	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.52532	.|U	.|0.000066	T|T	0.37812|0.37812	0.1017|0.1017	L|L	0.46614|0.46614	1.455|1.455	0.80722|0.80722	D|D	1|1	.|P;P	.|0.43352	.|0.767;0.804	.|P;P	.|0.52031	.|0.561;0.688	T|T	0.07616|0.07616	-1.0763|-1.0763	5|10	.|0.10111	.|T	.|0.7	.|.	14.4733|14.4733	0.67531|0.67531	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|231;460	.|F6W3S7;Q7Z553	.|.;MDGA2_HUMAN	R|A	234|460;231;529;231	.|ENSP00000400011:T460A;ENSP00000405456:T231A;ENSP00000382178:T529A;ENSP00000349925:T231A	.|ENSP00000349925:T231A	H|T	-|-	2|1	0|0	MDGA2|MDGA2	46574198|46574198	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.273000|6.273000	0.72581|0.72581	2.109000|2.109000	0.64355|0.64355	0.402000|0.402000	0.26972|0.26972	CAC|ACA		PASS	0.388	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		50	54	50	54	---	---	---	---
ATG14	22863	broad.mit.edu	37	14	55878324	55878324	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr14:55878324C>A	ENST00000247178.5	-	1	252	c.217G>T	c.(217-219)Gag>Tag	p.E73*		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	73					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)		p.E73*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						CCGTACCTCTCCCGGTCGCGG	0.672																																						uc001xbx.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(217-219)GAG>TAG		Barkor							7.0	10.0	9.0					14																	55878324		2140	4198	6338	SO:0001587	stop_gained	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55878324C>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.217G>T	14.37:g.55878324C>A	ENSP00000247178:p.Glu73*					FBXO34_uc001xbv.2_Intron	p.E73*	NM_014924	NP_055739	Q6ZNE5	BAKOR_HUMAN			1	253	-			73			Potential.		A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Nonsense_Mutation	SNP	ENST00000247178.5	37	c.217G>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	C	39	7.576184	0.98368	.	.	ENSG00000126775	ENST00000247178	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.0568	0.89365	0.0:1.0:0.0:0.0	.	.	.	.	X	73	.	ENSP00000247178:E73X	E	-	1	0	ATG14	54948077	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.549000	0.73900	2.742000	0.94016	0.655000	0.94253	GAG		PASS	0.672	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		19	10	19	10	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65246624	65246624	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr14:65246624C>T	ENST00000389721.5	-	20	4324	c.4292G>A	c.(4291-4293)cGa>cAa	p.R1431Q	SPTB_ENST00000389720.3_Missense_Mutation_p.R1431Q|SPTB_ENST00000542895.1_Missense_Mutation_p.R1431Q|SPTB_ENST00000556626.1_Missense_Mutation_p.R1431Q|SPTB_ENST00000389722.3_Missense_Mutation_p.R1431Q	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1431					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.R1431Q(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)		CTCCTCTTTTCGCACATTCAC	0.577																																						uc001xht.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(4291-4293)CGA>CAA		spectrin beta isoform b							111.0	107.0	108.0					14																	65246624		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.chr14:65246624C>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.4292G>A	14.37:g.65246624C>T	ENSP00000374371:p.Arg1431Gln					SPTB_uc001xhr.2_Missense_Mutation_p.R1431Q|SPTB_uc001xhs.2_Missense_Mutation_p.R1431Q|SPTB_uc001xhu.2_Missense_Mutation_p.R1431Q|SPTB_uc010aqi.2_Missense_Mutation_p.R92Q	p.R1431Q	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	4346	-		all_lung(585;4.15e-09)	1431			Spectrin 11.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.4292G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	32	5.149077	0.94645	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.48201	0.82;1.31;0.82;1.31;1.31;0.82	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	M	0.61703	1.905	0.58432	D	0.999998	D;P;P	0.53151	0.958;0.956;0.779	P;P;B	0.50934	0.654;0.611;0.169	T	0.62765	-0.6785	10	0.72032	D	0.01	.	17.9797	0.89137	0.0:1.0:0.0:0.0	.	215;1431;1435	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	Q	1435;1431;215;96;1431;1431;1431;1431	ENSP00000374372:R1431Q;ENSP00000451324:R96Q;ENSP00000451752:R1431Q;ENSP00000374371:R1431Q;ENSP00000443882:R1431Q;ENSP00000374370:R1431Q	ENSP00000334218:R215Q	R	-	2	0	SPTB	64316377	0.955000	0.32602	1.000000	0.80357	0.986000	0.74619	4.791000	0.62460	2.543000	0.85770	0.561000	0.74099	CGA		PASS	0.577	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			52	63	52	63	---	---	---	---
FLVCR2	55640	broad.mit.edu	37	14	76101273	76101273	+	Silent	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr14:76101273A>G	ENST00000238667.4	+	5	1397	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	FLVCR2_ENST00000539311.1_Silent_p.G142G|FLVCR2_ENST00000556856.1_Intron|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000555027.1_Silent_p.G62G|FLVCR2_ENST00000553587.1_Silent_p.G95G	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	347					heme transport (GO:0015886)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	heme binding (GO:0020037)|heme transporter activity (GO:0015232)	p.G347G(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGAATGCTGGAAGAATTGGCC	0.527																																						uc001xrs.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1039-1041)GGA>GGG		feline leukemia virus subgroup C cellular							128.0	106.0	113.0					14																	76101273		2203	4300	6503	SO:0001819	synonymous_variant	55640				transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	g.chr14:76101273A>G	AK000378	CCDS9844.1, CCDS55933.1	14q24.3	2013-05-22	2007-05-01	2007-05-01	ENSG00000119686	ENSG00000119686		"""Solute carriers"""	20105	protein-coding gene	gene with protein product		610865	"""chromosome 14 open reading frame 58"", ""feline leukemia virus subgroup C cellular receptor 2"""	C14orf58		16439531, 20206334	Standard	NM_017791		Approved	FLJ20371, MFSD7C	uc001xrs.2	Q9UPI3	OTTHUMG00000171487	ENST00000238667.4:c.1041A>G	14.37:g.76101273A>G						FLVCR2_uc010tvd.1_Silent_p.G142G	p.G347G	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	5	1417	+			347					B7Z485|Q53ZT9|Q96JY3|Q9NX90	Silent	SNP	ENST00000238667.4	37	c.1041A>G	CCDS9844.1																																																																																				PASS	0.527	FLVCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413672.1	NM_017791		38	49	38	49	---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104643061	104643061	+	Silent	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr14:104643061G>T	ENST00000423312.2	+	12	3936	c.3936G>T	c.(3934-3936)acG>acT	p.T1312T	KIF26A_ENST00000315264.7_Silent_p.T1173T	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1312					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.T1312T(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGCCACCACGCTGGGTGTGA	0.701																																						uc001yos.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(3934-3936)ACG>ACT		kinesin family member 26A							7.0	10.0	9.0					14																	104643061		1934	4092	6026	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104643061G>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.3936G>T	14.37:g.104643061G>T							p.T1312T	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	3936	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	1312					Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.3936G>T	CCDS45171.1																																																																																				PASS	0.701	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			3	8	3	8	---	---	---	---
IGHV3-30	28439	broad.mit.edu	37	14	106791099	106791099	+	RNA	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr14:106791099C>T	ENST00000390613.2	-	0	336									immunoglobulin heavy variable 3-30																		GATGGTGAATCGGCCCTTCAC	0.507																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							167.0	246.0	220.0					14																	106791099		2064	4215	6279			8755							g.chr14:106791099C>T	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106791099C>T														386		-									RNA	SNP	ENST00000390613.2	37	c.14519G>A																																																																																					PASS	0.507	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		37	616	37	616	---	---	---	---
ATP10A	57194	broad.mit.edu	37	15	25971181	25971181	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr15:25971181C>A	ENST00000356865.6	-	5	1007	c.896G>T	c.(895-897)cGc>cTc	p.R299L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	299					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R299L(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CAGCTTGCTGCGCTTGTAGCG	0.547																																						uc010ayu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(895-897)CGC>CTC		ATPase, class V, type 10A							122.0	98.0	106.0					15																	25971181		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25971181C>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.896G>T	15.37:g.25971181C>A	ENSP00000349325:p.Arg299Leu						p.R299L	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	5	1002	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	299			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.896G>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	35	5.497369	0.96355	.	.	ENSG00000206190	ENST00000356865	D	0.91577	-2.87	5.56	5.56	0.83823	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96269	0.8783	M	0.90483	3.12	0.80722	D	1	D	0.57571	0.98	D	0.68483	0.958	D	0.96435	0.9322	10	0.62326	D	0.03	-36.585	19.5211	0.95185	0.0:1.0:0.0:0.0	.	299	O60312	AT10A_HUMAN	L	299	ENSP00000349325:R299L	ENSP00000349325:R299L	R	-	2	0	ATP10A	23522274	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.830000	0.69324	2.613000	0.88420	0.563000	0.77884	CGC		PASS	0.547	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		14	38	14	38	---	---	---	---
HERC2	8924	broad.mit.edu	37	15	28419575	28419575	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr15:28419575C>G	ENST00000261609.7	-	65	10131	c.10023G>C	c.(10021-10023)caG>caC	p.Q3341H		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.Q3341H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTCTTGCAGTCTGGAAGAGGA	0.493																																						uc001zbj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(10021-10023)CAG>CAC		hect domain and RLD 2							29.0	28.0	28.0					15																	28419575		2203	4297	6500	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28419575C>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10023G>C	15.37:g.28419575C>G	ENSP00000261609:p.Gln3341His						p.Q3341H	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	65	10129	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3341						Missense_Mutation	SNP	ENST00000261609.7	37	c.10023G>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	14.13	2.442236	0.43326	.	.	ENSG00000128731	ENST00000261609	T	0.38560	1.13	5.28	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.53786	0.1818	L	0.60455	1.87	0.54753	D	0.999982	D	0.61697	0.99	D	0.72982	0.979	T	0.52238	-0.8602	10	0.41790	T	0.15	.	5.9365	0.19169	0.0:0.5868:0.0:0.4132	.	3341	O95714	HERC2_HUMAN	H	3341	ENSP00000261609:Q3341H	ENSP00000261609:Q3341H	Q	-	3	2	HERC2	26093170	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	3.003000	0.49505	1.077000	0.40990	0.591000	0.81541	CAG		PASS	0.493	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		13	21	13	21	---	---	---	---
PIAS1	8554	broad.mit.edu	37	15	68468058	68468058	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr15:68468058C>T	ENST00000249636.6	+	10	1401	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	PIAS1_ENST00000545237.1_Missense_Mutation_p.S420L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	418					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S418L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CCGATGAGATCAAAAAAGGAA	0.413																																						uc002aqz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(1252-1254)TCA>TTA		protein inhibitor of activated STAT, 1							87.0	86.0	86.0					15																	68468058		1874	4104	5978	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68468058C>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1253C>T	15.37:g.68468058C>T	ENSP00000249636:p.Ser418Leu					PIAS1_uc002ara.2_Missense_Mutation_p.S26L	p.S418L	NM_016166	NP_057250	O75925	PIAS1_HUMAN			10	1349	+			418					B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.1253C>T	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.935473	0.52866	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.32753	1.44;1.44	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	L	0.41710	1.295	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.03025	-1.1081	10	0.27785	T	0.31	-15.1113	15.6206	0.76802	0.0:0.8624:0.1376:0.0	.	418	O75925	PIAS1_HUMAN	L	418;420	ENSP00000249636:S418L;ENSP00000438574:S420L	ENSP00000249636:S418L	S	+	2	0	PIAS1	66255112	1.000000	0.71417	0.999000	0.59377	0.773000	0.43773	4.926000	0.63433	2.550000	0.86006	0.650000	0.86243	TCA		PASS	0.413	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2			3	21	3	21	---	---	---	---
ADAMTS7	11173	broad.mit.edu	37	15	79066580	79066580	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr15:79066580C>G	ENST00000388820.4	-	13	2149	c.1939G>C	c.(1939-1941)Gcc>Ccc	p.A647P	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	647	Cys-rich.				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 chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A647P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCGACCACGGCGTCCCGCAGC	0.622																																						uc002bej.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1939-1941)GCC>CCC		ADAM metallopeptidase with thrombospondin type 1							19.0	15.0	17.0					15																	79066580		2090	4004	6094	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79066580C>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.1939G>C	15.37:g.79066580C>G	ENSP00000373472:p.Ala647Pro					ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.A647P	p.A647P	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			13	2150	-			647			Cys-rich.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.1939G>C	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.933143	0.34096	.	.	ENSG00000136378	ENST00000388820	T	0.69306	-0.39	4.23	3.32	0.38043	.	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	M	0.69523	2.12	0.44188	D	0.997007	B;B	0.30482	0.075;0.281	B;B	0.31869	0.048;0.137	T	0.67373	-0.5687	10	0.62326	D	0.03	.	11.3651	0.49666	0.0:0.9086:0.0:0.0914	.	647;647	A8MQ00;Q9UKP4	.;ATS7_HUMAN	P	647	ENSP00000373472:A647P	ENSP00000373472:A647P	A	-	1	0	ADAMTS7	76853635	0.998000	0.40836	0.990000	0.47175	0.251000	0.25915	3.779000	0.55379	1.119000	0.41883	-0.439000	0.05793	GCC		PASS	0.622	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272		10	8	10	8	---	---	---	---
ZFAND6	54469	broad.mit.edu	37	15	80423536	80423536	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr15:80423536A>G	ENST00000261749.6	+	6	801	c.379A>G	c.(379-381)Aca>Gca	p.T127A	ZFAND6_ENST00000561060.1_Missense_Mutation_p.T127A|ZFAND6_ENST00000558087.1_Missense_Mutation_p.T127A|ZFAND6_ENST00000558494.1_Missense_Mutation_p.T127A|ZFAND6_ENST00000559835.1_Missense_Mutation_p.T127A|ZFAND6_ENST00000559157.1_Missense_Mutation_p.T115A|ZFAND6_ENST00000558688.1_Missense_Mutation_p.T127A|ZFAND6_ENST00000559775.1_Missense_Mutation_p.T127A	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	127					apoptotic process (GO:0006915)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|protein targeting to peroxisome (GO:0006625)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|polyubiquitin binding (GO:0031593)|zinc ion binding (GO:0008270)	p.T127A(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						AGTATCAGACACAGCACAGCA	0.398																																						uc002bfe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(379-381)ACA>GCA		zinc finger, AN1-type domain 6							103.0	100.0	101.0					15																	80423536		2203	4300	6503	SO:0001583	missense	54469						DNA binding|zinc ion binding	g.chr15:80423536A>G	BC005283	CCDS10313.1, CCDS58395.1	15q24.3	2013-01-09	2006-07-07	2006-07-07	ENSG00000086666	ENSG00000086666		"""Zinc fingers, AN1-type domain containing"""	30164	protein-coding gene	gene with protein product	"""protein associated with PRK1"""	610183	"""zinc finger, A20 domain containing 3"""	ZA20D3		11054541	Standard	NM_019006		Approved	ZFAND5B, AWP1	uc002bff.2	Q6FIF0	OTTHUMG00000144169	ENST00000261749.6:c.379A>G	15.37:g.80423536A>G	ENSP00000261749:p.Thr127Ala					ZFAND6_uc002bff.1_Missense_Mutation_p.T127A|ZFAND6_uc002bfg.1_Missense_Mutation_p.T115A|ZFAND6_uc002bfh.1_Missense_Mutation_p.T127A|ZFAND6_uc002bfi.1_Missense_Mutation_p.T127A	p.T127A	NM_019006	NP_061879	Q6FIF0	ZFAN6_HUMAN			6	690	+			127					D3DW92|D3DW94|O95792|Q9BQF7|Q9GZY3	Missense_Mutation	SNP	ENST00000261749.6	37	c.379A>G	CCDS10313.1	.	.	.	.	.	.	.	.	.	.	A	11.28	1.593277	0.28357	.	.	ENSG00000086666	ENST00000261749	.	.	.	5.28	-0.506	0.11989	Zinc finger, AN1-type (1);	1.082800	0.07169	N	0.852007	T	0.24967	0.0606	L	0.29908	0.895	0.09310	N	1	B;B	0.17852	0.024;0.008	B;B	0.22386	0.039;0.01	T	0.27971	-1.0058	9	0.09338	T	0.73	.	3.692	0.08350	0.5601:0.2506:0.0687:0.1206	.	115;127	Q6FIF0-2;Q6FIF0	.;ZFAN6_HUMAN	A	127	.	ENSP00000261749:T127A	T	+	1	0	ZFAND6	78210591	0.718000	0.27976	0.930000	0.37139	0.945000	0.59286	1.988000	0.40697	0.311000	0.23014	0.482000	0.46254	ACA		PASS	0.398	ZFAND6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291368.1	NM_019006		10	94	10	94	---	---	---	---
ECI1	1632	broad.mit.edu	37	16	2296982	2296982	+	Missense_Mutation	SNP	C	C	T	rs72766670		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:2296982C>T	ENST00000301729.4	-	3	219	c.172G>A	c.(172-174)Gct>Act	p.A58T	ECI1_ENST00000570258.1_5'UTR|ECI1_ENST00000562238.1_Missense_Mutation_p.A58T	NM_001919.3	NP_001910.2	P42126	ECI1_HUMAN	enoyl-CoA delta isomerase 1	58					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|intramolecular oxidoreductase activity (GO:0016860)	p.A58T(1)		endometrium(1)|large_intestine(2)|lung(6)	9						TTCATCACAGCGACCCCTAAT	0.507																																						uc002cpr.2																			1	Substitution - Missense(1)		lung(1)		0						c.(172-174)GCT>ACT		dodecenoyl-Coenzyme A delta isomerase precursor							28.0	27.0	28.0					16																	2296982		2198	4300	6498	SO:0001583	missense	1632				fatty acid beta-oxidation	mitochondrial matrix	dodecenoyl-CoA delta-isomerase activity	g.chr16:2296982C>T		CCDS10464.1, CCDS58410.1	16p13.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000167969	ENSG00000167969	5.3.3.8		2703	protein-coding gene	gene with protein product	"""3,2 trans-enoyl-CoA isomerase"""	600305	"""dodecenoyl-Coenzyme A delta isomerase (3,2 trans-enoyl-Coenzyme A isomerase)"", ""dodecenoyl-CoA isomerase"""	DCI		7829074	Standard	NM_001178029		Approved		uc002cpr.3	P42126	OTTHUMG00000128830	ENST00000301729.4:c.172G>A	16.37:g.2296982C>T	ENSP00000301729:p.Ala58Thr					DCI_uc002cps.2_Missense_Mutation_p.A58T	p.A58T	NM_001919	NP_001910	P42126	ECI1_HUMAN			3	208	-			58					A8K512|Q13290|Q7Z2L6|Q7Z2L7|Q9BUB8|Q9BW05|Q9UDG6	Missense_Mutation	SNP	ENST00000301729.4	37	c.172G>A	CCDS10464.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.155176	0.78114	.	.	ENSG00000167969	ENST00000301729	T	0.72615	-0.67	5.11	4.17	0.49024	Crotonase, core (1);	0.053666	0.64402	D	0.000001	D	0.83211	0.5205	M	0.84433	2.695	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.68943	0.961;0.942	D	0.84428	0.0575	10	0.49607	T	0.09	-9.0719	11.444	0.50112	0.0:0.9131:0.0:0.0869	.	58;58	P42126-2;P42126	.;ECI1_HUMAN	T	58	ENSP00000301729:A58T	ENSP00000301729:A58T	A	-	1	0	ECI1	2236983	0.996000	0.38824	0.044000	0.18714	0.016000	0.09150	3.499000	0.53310	1.407000	0.46875	0.655000	0.94253	GCT		PASS	0.507	ECI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250768.1			9	18	9	18	---	---	---	---
XYLT1	64131	broad.mit.edu	37	16	17352949	17352949	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:17352949C>A	ENST00000261381.6	-	3	893	c.809G>T	c.(808-810)cGt>cTt	p.R270L		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	270					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.R270L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GGACTTAGCACGGGACAGGGC	0.602																																						uc002dfa.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(808-810)CGT>CTT		xylosyltransferase I							81.0	75.0	77.0					16																	17352949		2197	4300	6497	SO:0001583	missense	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17352949C>A	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.809G>T	16.37:g.17352949C>A	ENSP00000261381:p.Arg270Leu						p.R270L	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			3	894	-			270			Lumenal (Potential).		Q9H1B6	Missense_Mutation	SNP	ENST00000261381.6	37	c.809G>T	CCDS10569.1	.	.	.	.	.	.	.	.	.	.	C	32	5.190498	0.94923	.	.	ENSG00000103489	ENST00000261381	T	0.11821	2.74	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.45256	0.1333	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.49360	-0.8948	10	0.56958	D	0.05	-25.0263	18.2463	0.89986	0.0:1.0:0.0:0.0	.	270	Q86Y38	XYLT1_HUMAN	L	270	ENSP00000261381:R270L	ENSP00000261381:R270L	R	-	2	0	XYLT1	17260450	1.000000	0.71417	0.985000	0.45067	0.941000	0.58515	7.711000	0.84669	2.547000	0.85894	0.655000	0.94253	CGT		PASS	0.602	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		15	64	15	64	---	---	---	---
SPNS1	83985	broad.mit.edu	37	16	28993679	28993679	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:28993679T>C	ENST00000311008.11	+	8	1345	c.968T>C	c.(967-969)cTc>cCc	p.L323P	SPNS1_ENST00000334536.8_Missense_Mutation_p.L271P|SPNS1_ENST00000352260.7_Missense_Mutation_p.L249P|SPNS1_ENST00000565975.1_Missense_Mutation_p.L368P|LAT_ENST00000454369.2_5'Flank|SPNS1_ENST00000323081.8_Missense_Mutation_p.L250P|LAT_ENST00000360872.5_5'Flank|LAT_ENST00000395456.2_5'Flank|LAT_ENST00000564277.1_5'Flank|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000561868.1_3'UTR|LAT_ENST00000395461.3_5'Flank	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	323					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrial inner membrane (GO:0005743)		p.L323P(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						ACCCCTAGTCTCATCTTTGGA	0.637																																						uc010vdi.1																			1	Substitution - Missense(1)		lung(1)		0						c.(967-969)CTC>CCC		spinster homolog 1 isoform 1							99.0	96.0	97.0					16																	28993679		2197	4300	6497	SO:0001583	missense	83985				lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding	g.chr16:28993679T>C	BC006156	CCDS10646.1, CCDS45452.1, CCDS45453.1, CCDS45454.1	16p11.2	2007-04-12			ENSG00000169682	ENSG00000169682			30621	protein-coding gene	gene with protein product		612583				11340170, 12815463	Standard	NM_032038		Approved	HSpin1, nrs, SPINL, PP2030, SPIN1, LAT	uc010vdi.1	Q9H2V7	OTTHUMG00000131762	ENST00000311008.11:c.968T>C	16.37:g.28993679T>C	ENSP00000309945:p.Leu323Pro					uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.L250P|SPNS1_uc002dsa.2_Missense_Mutation_p.L323P|SPNS1_uc002drz.2_Missense_Mutation_p.L271P|SPNS1_uc010byp.2_Missense_Mutation_p.L249P|SPNS1_uc010byq.1_Missense_Mutation_p.L255P|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank	p.L323P	NM_001142448	NP_001135920	Q9H2V7	SPNS1_HUMAN			9	1108	+			323			Helical; (Potential).		B5MDM9|Q6P182|Q71RB5|Q7L541|Q86VU7|Q8N953|Q8TCS5|Q9BRN5	Missense_Mutation	SNP	ENST00000311008.11	37	c.968T>C	CCDS10646.1	.	.	.	.	.	.	.	.	.	.	T	15.86	2.958029	0.53400	.	.	ENSG00000169682	ENST00000311008;ENST00000334536;ENST00000352260;ENST00000323081	T;T;T;T	0.59224	0.28;0.63;0.63;0.28	4.6	4.6	0.57074	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.074715	0.56097	D	0.000040	T	0.75867	0.3908	M	0.82323	2.585	0.80722	D	1	D;D;D;D	0.76494	0.998;0.999;0.998;0.998	D;D;D;D	0.75484	0.967;0.978;0.976;0.986	T	0.79852	-0.1628	10	0.87932	D	0	.	11.9841	0.53135	0.0:0.0:0.0:1.0	.	250;249;323;271	Q9H2V7-4;Q9H2V7-3;Q9H2V7;Q9H2V7-2	.;.;SPNS1_HUMAN;.	P	323;271;249;250	ENSP00000309945:L323P;ENSP00000335494:L271P;ENSP00000306050:L249P;ENSP00000318228:L250P	ENSP00000309945:L323P	L	+	2	0	SPNS1	28901180	1.000000	0.71417	1.000000	0.80357	0.139000	0.21198	7.465000	0.80898	1.933000	0.56026	0.379000	0.24179	CTC		PASS	0.637	SPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254690.2	NM_032038		18	33	18	33	---	---	---	---
C16orf92	146378	broad.mit.edu	37	16	30035111	30035111	+	Missense_Mutation	SNP	G	G	T	rs375771294		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:30035111G>T	ENST00000300575.2	+	2	215	c.194G>T	c.(193-195)aGa>aTa	p.R65I	DOC2A_ENST00000567824.1_5'Flank	NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	65						integral component of membrane (GO:0016021)		p.R65I(1)		breast(3)|lung(3)	6						TTCTTAGACAGACCTGACTTC	0.552																																						uc002dvs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)AGA>ATA		hypothetical protein LOC146378 isoform 2							45.0	46.0	46.0					16																	30035111		1991	4148	6139	SO:0001583	missense	146378					integral to membrane		g.chr16:30035111G>T	AK058133	CCDS42146.1	16p11.2	2012-05-30			ENSG00000167194	ENSG00000167194			26346	protein-coding gene	gene with protein product							Standard	NM_001109659		Approved	FLJ25404	uc002dvs.2	Q96LL3	OTTHUMG00000177107	ENST00000300575.2:c.194G>T	16.37:g.30035111G>T	ENSP00000300575:p.Arg65Ile					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvr.2_Missense_Mutation_p.R43I	p.R65I	NM_001109660	NP_001103130	Q96LL3	CP092_HUMAN			2	215	+			65					Q494R8	Missense_Mutation	SNP	ENST00000300575.2	37	c.194G>T	CCDS42146.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219108	0.39201	.	.	ENSG00000167194	ENST00000300575	T	0.31510	1.49	5.07	-0.746	0.11095	.	1.022190	0.07822	N	0.959978	T	0.26557	0.0649	L	0.27053	0.805	0.09310	N	0.999998	D;P	0.53745	0.962;0.815	P;P	0.49887	0.625;0.487	T	0.23583	-1.0184	10	0.87932	D	0	4.0E-4	5.2076	0.15299	0.3125:0.2898:0.3977:0.0	.	65;43	Q96LL3;Q96LL3-2	CP092_HUMAN;.	I	65	ENSP00000300575:R65I	ENSP00000300575:R65I	R	+	2	0	C16orf92	29942612	0.009000	0.17119	0.001000	0.08648	0.781000	0.44180	0.375000	0.20518	-0.028000	0.13850	0.655000	0.94253	AGA		PASS	0.552	C16orf92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435351.1	NM_001109659		6	23	6	23	---	---	---	---
SEPHS2	22928	broad.mit.edu	37	16	30456053	30456053	+	Silent	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:30456053T>C	ENST00000478753.2	-	1	1449	c.996A>G	c.(994-996)caA>caG	p.Q332Q	SEPHS2_ENST00000500504.2_Silent_p.Q332Q|SEPHS2_ENST00000542752.1_Silent_p.Q275Q			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	332					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)	p.Q332Q(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						CATTTCTTTGTTGTTTTGCAA	0.458																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	uc010ves.1																			1	Substitution - coding silent(1)		lung(1)	breast(2)	2						c.(994-996)CAA>CAG		selenophosphate synthetase 2							86.0	80.0	82.0					16																	30456053		1916	4127	6043	SO:0001819	synonymous_variant	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456053T>C	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.996A>G	16.37:g.30456053T>C						SEPHS2_uc002dyh.1_Silent_p.Q275Q|SEPHS2_uc010vet.1_Silent_p.Q214Q	p.Q332Q	NM_012248	NP_036380	Q99611	SPS2_HUMAN			2	1172	-			332					Q9BUQ2	Silent	SNP	ENST00000478753.2	37	c.996A>G																																																																																					PASS	0.458	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		31	48	31	48	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57060632	57060632	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:57060632G>T	ENST00000262510.6	+	6	2002	c.1777G>T	c.(1777-1779)Gct>Tct	p.A593S	NLRC5_ENST00000308149.7_Missense_Mutation_p.A593S|NLRC5_ENST00000436936.1_Missense_Mutation_p.A593S|NLRC5_ENST00000539144.1_Missense_Mutation_p.A593S	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	593					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)	p.A593S(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCCAAGCAGGCTGCTGTAGT	0.617																																						uc002ekk.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|breast(1)	7						c.(1777-1779)GCT>TCT		nucleotide-binding oligomerization domains 27							67.0	54.0	58.0					16																	57060632		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57060632G>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1777G>T	16.37:g.57060632G>T	ENSP00000262510:p.Ala593Ser					NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.A398S|NLRC5_uc002ekl.2_Missense_Mutation_p.A398S|NLRC5_uc002ekm.2_Missense_Mutation_p.A398S|NLRC5_uc010ccr.1_RNA	p.A593S	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			6	2002	+		all_neural(199;0.225)	593					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.1777G>T	CCDS10773.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.750|5.750	0.322777|0.322777	0.10900|0.10900	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000327982;ENST00000539144;ENST00000538110|ENST00000538805	D;D;D;D;D|.	0.83837|.	-1.77;-1.77;-1.77;-1.77;-1.77|.	5.42|5.42	2.11|2.11	0.27256|0.27256	.|.	1.515750|.	0.04807|.	N|.	0.434621|.	T|T	0.42154|0.42154	0.1190|0.1190	L|L	0.60455|0.60455	1.87|1.87	0.19775|0.19775	N|N	0.999956|0.999956	P;P;B;B|.	0.43662|.	0.814;0.804;0.08;0.208|.	B;B;B;B|.	0.42214|.	0.38;0.307;0.037;0.146|.	T|T	0.30208|0.30208	-0.9986|-0.9986	10|5	0.09590|.	T|.	0.72|.	.|.	5.7495|5.7495	0.18138|0.18138	0.1782:0.2862:0.5356:0.0|0.1782:0.2862:0.5356:0.0	.|.	593;593;593;593|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	S|V	593;593;593;67;593;100|345	ENSP00000262510:A593S;ENSP00000308886:A593S;ENSP00000389739:A593S;ENSP00000441727:A593S;ENSP00000441597:A100S|.	ENSP00000262510:A593S|.	A|G	+|+	1|2	0|0	NLRC5|NLRC5	55618133|55618133	0.991000|0.991000	0.36638|0.36638	0.658000|0.658000	0.29665|0.29665	0.031000|0.031000	0.12232|0.12232	2.124000|2.124000	0.42006|0.42006	0.597000|0.597000	0.29811|0.29811	0.561000|0.561000	0.74099|0.74099	GCT|GGC		PASS	0.617	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		15	76	15	76	---	---	---	---
CDH11	1009	broad.mit.edu	37	16	65026887	65026887	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:65026887C>T	ENST00000268603.4	-	5	1189	c.574G>A	c.(574-576)Gga>Aga	p.G192R	CDH11_ENST00000566827.1_Missense_Mutation_p.G66R|CDH11_ENST00000394156.3_Missense_Mutation_p.G192R	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	192	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G192R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCGCTATTTCCATAAGTGGGG	0.408			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												uc002eoi.2				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		1	Substitution - Missense(1)		lung(1)	lung(10)|ovary(3)|skin(1)	14						c.(574-576)GGA>AGA		cadherin 11, type 2 preproprotein							185.0	152.0	163.0					16																	65026887		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65026887C>T	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.574G>A	16.37:g.65026887C>T	ENSP00000268603:p.Gly192Arg	TSP Lung(24;0.17)				CDH11_uc010cdn.2_RNA|CDH11_uc002eoj.2_Missense_Mutation_p.G192R|CDH11_uc010vin.1_Missense_Mutation_p.G66R	p.G192R	NM_001797	NP_001788	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	5	1008	-		Ovarian(137;0.0973)	192			Cadherin 2.|Extracellular (Potential).		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.574G>A	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448313	0.84101	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.56275	0.47;0.47	6.03	6.03	0.97812	Cadherin (4);Cadherin-like (1);	0.105049	0.64402	D	0.000004	T	0.80465	0.4628	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.80764	0.915;0.994	D	0.83956	0.0319	10	0.87932	D	0	.	19.5634	0.95382	0.0:1.0:0.0:0.0	.	192;192	P55287-2;P55287	.;CAD11_HUMAN	R	192;192;175	ENSP00000268603:G192R;ENSP00000377711:G192R	ENSP00000268603:G192R	G	-	1	0	CDH11	63584388	1.000000	0.71417	0.997000	0.53966	0.373000	0.29922	7.818000	0.86416	2.868000	0.98415	0.557000	0.71058	GGA		PASS	0.408	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		21	115	21	115	---	---	---	---
GFOD2	81577	broad.mit.edu	37	16	67709423	67709423	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:67709423C>A	ENST00000268797.7	-	3	1138	c.793G>T	c.(793-795)Gcc>Tcc	p.A265S	GFOD2_ENST00000602377.1_5'UTR	NM_030819.3	NP_110446.3	Q3B7J2	GFOD2_HUMAN	glucose-fructose oxidoreductase domain containing 2	265					extracellular matrix organization (GO:0030198)	proteinaceous extracellular matrix (GO:0005578)	oxidoreductase activity (GO:0016491)	p.A265S(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TAGAGGTCGGCTCCCCGGGCG	0.622																																						uc002eub.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(793-795)GCC>TCC		glucose-fructose oxidoreductase domain							49.0	46.0	47.0					16																	67709423		2198	4300	6498	SO:0001583	missense	81577					proteinaceous extracellular matrix	binding|oxidoreductase activity	g.chr16:67709423C>A	AK074382	CCDS10845.1, CCDS59268.1	16q22.1	2008-02-05			ENSG00000141098	ENSG00000141098			28159	protein-coding gene	gene with protein product						12975309	Standard	NM_030819		Approved	FLJ23802, MGC11335	uc002eub.3	Q3B7J2	OTTHUMG00000137537	ENST00000268797.7:c.793G>T	16.37:g.67709423C>A	ENSP00000268797:p.Ala265Ser					GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.A160S	p.A265S	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)	3	1088	-		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	265					Q69YL9|Q6UXX6|Q7L648|Q8TE86|Q9BQ07|R4GNG5	Missense_Mutation	SNP	ENST00000268797.7	37	c.793G>T	CCDS10845.1	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277279	0.23307	.	.	ENSG00000141098	ENST00000268797	T	0.42131	0.98	5.28	3.22	0.36961	.	0.147838	0.64402	D	0.000015	T	0.14056	0.0340	N	0.03608	-0.345	0.36175	D	0.849039	B	0.10296	0.003	B	0.06405	0.002	T	0.26087	-1.0113	10	0.12766	T	0.61	-18.035	2.4855	0.04597	0.2555:0.5047:0.0:0.2398	.	265	Q3B7J2	GFOD2_HUMAN	S	265	ENSP00000268797:A265S	ENSP00000268797:A265S	A	-	1	0	GFOD2	66266924	0.996000	0.38824	0.999000	0.59377	0.662000	0.39071	2.783000	0.47766	2.625000	0.88918	0.557000	0.71058	GCC		PASS	0.622	GFOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268868.2	NM_030819		12	71	12	71	---	---	---	---
TANGO6	79613	broad.mit.edu	37	16	68936358	68936358	+	Silent	SNP	A	A	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:68936358A>C	ENST00000261778.1	+	9	1630	c.1618A>C	c.(1618-1620)Aga>Cga	p.R540R		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	540						integral component of membrane (GO:0016021)		p.R69R(1)|p.R540R(1)									GTGTCAGTTTAGAGTTGCCAC	0.478																																						uc002ewi.3																			2	Substitution - coding silent(2)		lung(2)		0						c.(1618-1620)AGA>CGA		transmembrane and coiled-coil domains 7							124.0	124.0	124.0					16																	68936358		1959	4137	6096	SO:0001819	synonymous_variant	79613					integral to membrane	binding	g.chr16:68936358A>C		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1618A>C	16.37:g.68936358A>C							p.R540R	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	9	1630	+		Ovarian(137;0.0568)	540					Q569F9|Q9H9K1	Silent	SNP	ENST00000261778.1	37	c.1618A>C	CCDS45516.1																																																																																				PASS	0.478	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		35	215	35	215	---	---	---	---
CALB2	794	broad.mit.edu	37	16	71392738	71392738	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:71392738G>A	ENST00000302628.4	+	1	120	c.43G>A	c.(43-45)Gag>Aag	p.E15K	CALB2_ENST00000349553.5_Missense_Mutation_p.E15K	NM_001740.4	NP_001731.2	P22676	CALB2_HUMAN	calbindin 2	15					cytosolic calcium ion homeostasis (GO:0051480)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E15K(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GCACCTGGCCGAGCTGACGGC	0.662																																						uc002faa.3																			1	Substitution - Missense(1)		lung(1)		0						c.(43-45)GAG>AAG		calbindin 2 isoform 1							23.0	23.0	23.0					16																	71392738		2196	4300	6496	SO:0001583	missense	794						calcium ion binding	g.chr16:71392738G>A	X56667	CCDS10899.1	16q22.2	2013-01-10	2008-05-19		ENSG00000172137	ENSG00000172137		"""EF-hand domain containing"""	1435	protein-coding gene	gene with protein product	"""calretinin"""	114051	"""calbindin 2, 29kDa (calretinin)"""			1906795	Standard	NM_001740		Approved	CAL2	uc002faa.4	P22676	OTTHUMG00000137589	ENST00000302628.4:c.43G>A	16.37:g.71392738G>A	ENSP00000307508:p.Glu15Lys					CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Missense_Mutation_p.E15K	p.E15K	NM_001740	NP_001731	P22676	CALB2_HUMAN			1	113	+		Ovarian(137;0.125)	15					A8K4Y1|Q53HD2|Q96BK4	Missense_Mutation	SNP	ENST00000302628.4	37	c.43G>A	CCDS10899.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884778	0.51908	.	.	ENSG00000172137	ENST00000349553;ENST00000302628	T;T	0.68903	-0.36;-0.36	5.37	5.37	0.77165	.	0.046786	0.85682	D	0.000000	T	0.51381	0.1671	N	0.20881	0.62	0.58432	D	0.999992	B;B	0.19073	0.022;0.033	B;B	0.15052	0.012;0.007	T	0.47071	-0.9145	10	0.11794	T	0.64	-22.0354	16.0327	0.80593	0.0:0.0:1.0:0.0	.	15;15	A6NER6;P22676	.;CALB2_HUMAN	K	15	ENSP00000340294:E15K;ENSP00000307508:E15K	ENSP00000307508:E15K	E	+	1	0	CALB2	69950239	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.769000	0.85360	2.508000	0.84585	0.563000	0.77884	GAG		PASS	0.662	CALB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268988.1	NM_001740		8	26	8	26	---	---	---	---
RFWD3	55159	broad.mit.edu	37	16	74670477	74670477	+	Splice_Site	SNP	T	T	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:74670477T>G	ENST00000361070.4	-	8	1292		c.e8-2		RFWD3_ENST00000571750.1_Splice_Site	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3						DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TTGCAAGTCCTAAAATGAAAA	0.383																																						uc002fda.2																			1	Unknown(1)		lung(1)	lung(2)|breast(1)	3						c.e8-1		ring finger and WD repeat domain 3							37.0	40.0	39.0					16																	74670477		2198	4300	6498	SO:0001630	splice_region_variant	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74670477T>G	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.1195-2A>C	16.37:g.74670477T>G						RFWD3_uc010cgq.2_Splice_Site_p.D399_splice	p.D399_splice	NM_018124	NP_060594	Q6PCD5	RFWD3_HUMAN			8	1293	-								A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Splice_Site	SNP	ENST00000361070.4	37	c.1195_splice	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246804	0.59103	.	.	ENSG00000168411	ENST00000361070	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9141	0.79496	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RFWD3	73227978	1.000000	0.71417	0.997000	0.53966	0.637000	0.38172	5.774000	0.68906	2.154000	0.67381	0.533000	0.62120	.		PASS	0.383	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124	Intron	13	45	13	45	---	---	---	---
CNTNAP4	85445	broad.mit.edu	37	16	76572187	76572187	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:76572187T>C	ENST00000476707.1	+	18	3318	c.3179T>C	c.(3178-3180)tTt>tCt	p.F1060S	CNTNAP4_ENST00000307431.8_Missense_Mutation_p.F1056S|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.F984S|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.F1008S|CNTNAP4_ENST00000469589.1_3'UTR			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	1057	Laminin G-like 4. {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.F1056S(1)|p.F984S(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						TTGCTGCTTTTTGTGAGCTCC	0.388																																						uc002feu.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(3169-3171)TTT>TCT		cell recognition protein CASPR4 isoform 1							115.0	110.0	112.0					16																	76572187		1835	4103	5938	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76572187T>C	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.3179T>C	16.37:g.76572187T>C	ENSP00000417628:p.Phe1060Ser					CNTNAP4_uc002fev.1_Missense_Mutation_p.F921S|CNTNAP4_uc010chb.1_Missense_Mutation_p.F984S|CNTNAP4_uc002fex.1_Missense_Mutation_p.F1060S	p.F1057S	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN			21	3555	+			1057			Extracellular (Potential).|Laminin G-like 4.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.3170T>C		.	.	.	.	.	.	.	.	.	.	T	11.84	1.759596	0.31137	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.35	4.26	0.50523	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.420838	0.17461	N	0.173434	T	0.72700	0.3493	.	.	.	0.09310	N	1	B;B;B	0.26602	0.019;0.04;0.154	B;B;B	0.34873	0.102;0.102;0.191	T	0.66143	-0.5997	9	0.62326	D	0.03	.	9.4253	0.38576	0.6783:0.0:0.0:0.3217	.	984;1060;1057	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	S	1056;1008;984;1060	ENSP00000306893:F1056S;ENSP00000439733:F1008S;ENSP00000418741:F984S;ENSP00000417628:F1060S	ENSP00000306893:F1056S	F	+	2	0	CNTNAP4	75129688	0.113000	0.22115	0.013000	0.15412	0.981000	0.71138	2.152000	0.42272	1.038000	0.40049	0.533000	0.62120	TTT		PASS	0.388	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		40	187	40	187	---	---	---	---
IRF8	3394	broad.mit.edu	37	16	85948115	85948115	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:85948115C>A	ENST00000268638.5	+	6	1012	c.590C>A	c.(589-591)gCg>gAg	p.A197E	IRF8_ENST00000562492.1_5'UTR	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	197			A -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid cell differentiation (GO:0030099)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)	p.A197E(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACCTACGACGCGCACCATTCA	0.602																																						uc002fjh.2																			1	Substitution - Missense(1)	p.A197T(1)	lung(1)	breast(2)|ovary(1)	3						c.(589-591)GCG>GAG		interferon regulatory factor 8							80.0	73.0	75.0					16																	85948115		2198	4300	6498	SO:0001583	missense	3394				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr16:85948115C>A	M91196	CCDS10956.1	16q24.1	2014-09-17	2004-11-12	2004-11-12	ENSG00000140968	ENSG00000140968			5358	protein-coding gene	gene with protein product		601565	"""interferon consensus sequence binding protein 1"""	ICSBP1		1460054, 11997525	Standard	NM_002163		Approved	IRF-8, ICSBP	uc002fjh.3	Q02556	OTTHUMG00000137648	ENST00000268638.5:c.590C>A	16.37:g.85948115C>A	ENSP00000268638:p.Ala197Glu					IRF8_uc010chp.2_Intron	p.A197E	NM_002163	NP_002154	Q02556	IRF8_HUMAN			6	647	+		Prostate(104;0.0771)	197		A -> T (in a breast cancer sample; somatic mutation).			A0AV82	Missense_Mutation	SNP	ENST00000268638.5	37	c.590C>A	CCDS10956.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550374	0.27739	.	.	ENSG00000140968	ENST00000268638	D	0.97016	-4.21	5.0	1.93	0.25924	SMAD domain-like (1);	1.406090	0.04054	N	0.305202	D	0.91626	0.7354	L	0.36672	1.1	0.22489	N	0.999057	B	0.02656	0.0	B	0.09377	0.004	T	0.79347	-0.1841	10	0.10636	T	0.68	-7.0E-4	2.1299	0.03748	0.1686:0.5142:0.1439:0.1733	.	197	Q02556	IRF8_HUMAN	E	197	ENSP00000268638:A197E	ENSP00000268638:A197E	A	+	2	0	IRF8	84505616	0.000000	0.05858	0.000000	0.03702	0.205000	0.24178	0.789000	0.26886	0.232000	0.21100	-0.140000	0.14226	GCG		PASS	0.602	IRF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269100.2	NM_002163		35	39	35	39	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89352526	89352526	+	Silent	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr16:89352526C>T	ENST00000301030.4	-	8	1273	c.813G>A	c.(811-813)ctG>ctA	p.L271L	ANKRD11_ENST00000378330.2_Silent_p.L271L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	271					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L271L(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGGCCACTTTCAGCGGCGTCT	0.602																																						uc002fmx.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(811-813)CTG>CTA		ankyrin repeat domain 11							166.0	156.0	159.0					16																	89352526		2198	4300	6498	SO:0001819	synonymous_variant	29123					nucleus		g.chr16:89352526C>T	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.813G>A	16.37:g.89352526C>T						ANKRD11_uc002fmy.1_Silent_p.L271L|ANKRD11_uc002fnc.1_Silent_p.L271L|ANKRD11_uc002fnb.1_Silent_p.L228L	p.L271L	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	8	1274	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	271			ANK 4.		Q6NTG1|Q6QMF8	Silent	SNP	ENST00000301030.4	37	c.813G>A	CCDS32513.1																																																																																				PASS	0.602	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		34	216	34	216	---	---	---	---
SCARF1	8578	broad.mit.edu	37	17	1542992	1542992	+	Nonsense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr17:1542992G>C	ENST00000263071.4	-	7	1233	c.1184C>G	c.(1183-1185)tCa>tGa	p.S395*	SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000348987.3_Intron|SCARF1_ENST00000571272.1_Nonsense_Mutation_p.S395*	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	395					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)	p.S395*(1)		cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ACAAGGAACTGAGCAGTTGTT	0.612																																						uc002fsz.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(1183-1185)TCA>TGA		scavenger receptor class F, member 1 isoform 1							57.0	46.0	50.0					17																	1542992		2199	4298	6497	SO:0001587	stop_gained	8578				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity	g.chr17:1542992G>C	D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.1184C>G	17.37:g.1542992G>C	ENSP00000263071:p.Ser395*					SCARF1_uc002fsy.1_Nonsense_Mutation_p.S395*|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Intron	p.S395*	NM_003693	NP_003684	Q14162	SREC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	7	1234	-			395			Extracellular (Potential).		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Nonsense_Mutation	SNP	ENST00000263071.4	37	c.1184C>G	CCDS11007.1	.	.	.	.	.	.	.	.	.	.	G	37	6.578915	0.97680	.	.	ENSG00000074660	ENST00000263071;ENST00000434376	.	.	.	5.5	5.5	0.81552	.	0.000000	0.43919	D	0.000508	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-14.4196	18.9829	0.92761	0.0:0.0:1.0:0.0	.	.	.	.	X	395	.	ENSP00000263071:S395X	S	-	2	0	SCARF1	1489742	1.000000	0.71417	0.951000	0.38953	0.942000	0.58702	3.614000	0.54160	2.573000	0.86826	0.561000	0.74099	TCA		PASS	0.612	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207081.4	NM_003693		2	9	2	9	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000420246.2_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (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.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		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		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(139)|p.V157I(10)|p.V157D(8)|p.V157G(7)|p.0?(7)|p.V157L(6)|p.V157V(5)|p.V157fs*13(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(469-471)GTC>TTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	52.0	51.0					17																	7578461		2202	4300	6502	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.chr17:7578461C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	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.V157F|TP53_uc002gih.2_Missense_Mutation_p.V157F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.V25F|TP53_uc010cng.1_Missense_Mutation_p.V25F|TP53_uc002gii.1_Missense_Mutation_p.V25F|TP53_uc010cnh.1_Missense_Mutation_p.V157F|TP53_uc010cni.1_Missense_Mutation_p.V157F|TP53_uc002gij.2_Missense_Mutation_p.V157F|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.V64F|TP53_uc002gio.2_Missense_Mutation_p.V25F|TP53_uc010vug.1_Missense_Mutation_p.V118F	p.V157F	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	663	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> I (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> A (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> D (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.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		PASS	0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	39	23	39	---	---	---	---
MYH13	8735	broad.mit.edu	37	17	10235464	10235464	+	Silent	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr17:10235464G>T	ENST00000418404.3	-	19	2413	c.2250C>A	c.(2248-2250)ctC>ctA	p.L750L	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Silent_p.L750L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	750	Myosin motor.				cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L750L(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGATGGAGTTGAGGAGCTTCT	0.552																																						uc002gmk.1																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|skin(2)	6						c.(2248-2250)CTC>CTA		myosin, heavy polypeptide 13, skeletal muscle							144.0	148.0	147.0					17																	10235464		2077	4234	6311	SO:0001819	synonymous_variant	8735				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:10235464G>T	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2250C>A	17.37:g.10235464G>T							p.L750L	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN			20	2340	-			750			Myosin head-like.		O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	c.2250C>A	CCDS45613.1																																																																																				PASS	0.552	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		50	52	50	52	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10352316	10352316	+	Silent	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr17:10352316A>G	ENST00000255381.2	-	31	4340	c.4230T>C	c.(4228-4230)gcT>gcC	p.A1410A	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1410					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.A1410A(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						TGGAATTCACAGCTTCTACAT	0.463																																						uc002gmn.2																			1	Substitution - coding silent(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(4228-4230)GCT>GCC		myosin, heavy polypeptide 4, skeletal muscle							79.0	72.0	75.0					17																	10352316		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10352316A>G		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.4230T>C	17.37:g.10352316A>G						uc002gml.1_Intron	p.A1410A	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			31	4341	-			1410			Potential.			Silent	SNP	ENST00000255381.2	37	c.4230T>C	CCDS11154.1																																																																																				PASS	0.463	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		12	61	12	61	---	---	---	---
DNAH9	1770	broad.mit.edu	37	17	11535923	11535923	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr17:11535923C>A	ENST00000262442.4	+	8	1606	c.1538C>A	c.(1537-1539)tCt>tAt	p.S513Y	DNAH9_ENST00000454412.2_Missense_Mutation_p.S513Y	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	513	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.S513Y(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATGACGTCTCTGAATTTAAC	0.393																																						uc002gne.2																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1)	20						c.(1537-1539)TCT>TAT		dynein, axonemal, heavy chain 9 isoform 2							96.0	96.0	96.0					17																	11535923		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11535923C>A	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1538C>A	17.37:g.11535923C>A	ENSP00000262442:p.Ser513Tyr						p.S513Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	8	1606	+		Breast(5;0.0122)|all_epithelial(5;0.131)	513			Potential.|Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.1538C>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.875914	0.00062	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.56444	0.46;0.46	5.18	2.05	0.26809	Dynein heavy chain, domain-1 (1);	1.698510	0.04030	U	0.301328	T	0.30324	0.0761	N	0.16233	0.39	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.22591	-1.0212	10	0.05959	T	0.93	.	1.5773	0.02627	0.1675:0.4719:0.1749:0.1857	.	513	Q9NYC9	DYH9_HUMAN	Y	513	ENSP00000262442:S513Y;ENSP00000414874:S513Y	ENSP00000262442:S513Y	S	+	2	0	DNAH9	11476648	0.000000	0.05858	0.005000	0.12908	0.072000	0.16883	-0.399000	0.07250	0.561000	0.29186	-0.145000	0.13849	TCT		PASS	0.393	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		22	83	22	83	---	---	---	---
GSDMB	55876	broad.mit.edu	37	17	38068665	38068665	+	Silent	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr17:38068665T>C	ENST00000394179.1	-	3	451	c.321A>G	c.(319-321)tcA>tcG	p.S107S	GSDMB_ENST00000418519.1_Silent_p.S107S|GSDMB_ENST00000360317.3_Silent_p.S107S|GSDMB_ENST00000520542.1_Silent_p.S107S|GSDMB_ENST00000394175.2_Silent_p.S107S|GSDMB_ENST00000309481.7_Silent_p.S107S			Q8TAX9	GSDMB_HUMAN	gasdermin B	107						cytoplasm (GO:0005737)		p.S107S(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GGAAACTGCCTGAAATTGTTA	0.428																																						uc010cwj.2																			2	Substitution - coding silent(2)		lung(2)	breast(1)|pancreas(1)	2						c.(319-321)TCA>TCG		gasdermin B isoform 1							165.0	156.0	159.0					17																	38068665		2203	4300	6503	SO:0001819	synonymous_variant	55876					cytoplasm		g.chr17:38068665T>C	AF119884	CCDS11354.1, CCDS42313.1, CCDS54119.1, CCDS54120.1	17q21.2	2008-07-31	2008-07-31	2008-07-31	ENSG00000073605	ENSG00000073605			23690	protein-coding gene	gene with protein product		611221	"""gasdermin-like"""	GSDML		12883658, 15010812, 17350798	Standard	NM_001042471		Approved	PRO2521	uc010cwj.3	Q8TAX9	OTTHUMG00000133248	ENST00000394179.1:c.321A>G	17.37:g.38068665T>C						GSDMB_uc010cwk.2_RNA|GSDMB_uc010cwl.2_RNA|GSDMB_uc010cwm.2_RNA|GSDMB_uc002htg.2_Silent_p.S107S|GSDMB_uc002hth.2_Silent_p.S107S|GSDMB_uc010wem.1_Silent_p.S107S	p.S107S	NM_001042471	NP_001035936	Q8TAX9	GSDMB_HUMAN			2	326	-			107					B4DKK7|Q7Z377|Q8WY76|Q9NX71|Q9P163	Silent	SNP	ENST00000394179.1	37	c.321A>G		.	.	.	.	.	.	.	.	.	.	T	3.258	-0.151881	0.06585	.	.	ENSG00000073605	ENST00000420491	.	.	.	3.33	1.01	0.19927	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.22208	-1.0223	4	.	.	.	.	2.4602	0.04539	0.2688:0.136:0.0:0.5952	.	.	.	.	R	39	.	.	Q	-	2	0	GSDMB	35322191	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.073000	0.14640	0.160000	0.19432	0.421000	0.28195	CAG		PASS	0.428	GSDMB-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_018530		28	69	28	69	---	---	---	---
STAT3	6774	broad.mit.edu	37	17	40474455	40474455	+	Nonsense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr17:40474455G>C	ENST00000264657.5	-	21	2258	c.1946C>G	c.(1945-1947)tCa>tGa	p.S649*	STAT3_ENST00000404395.3_Nonsense_Mutation_p.S649*|STAT3_ENST00000588969.1_Nonsense_Mutation_p.S649*|STAT3_ENST00000389272.3_Nonsense_Mutation_p.S551*|STAT3_ENST00000585517.1_Nonsense_Mutation_p.S649*	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	649	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|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)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S649*(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TTCAGCAAATGACATGTTGTT	0.473									Hyperimmunoglobulin E Recurrent Infection Syndrome																													uc002hzl.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|lung(1)|breast(1)|central_nervous_system(1)	4						c.(1945-1947)TCA>TGA		signal transducer and activator of transcription							265.0	231.0	243.0					17																	40474455		2203	4300	6503	SO:0001587	stop_gained	6774	Hyperimmunoglobulin_E_Recurrent_Infection_Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40474455G>C	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1946C>G	17.37:g.40474455G>C	ENSP00000264657:p.Ser649*					STAT3_uc002hzk.1_Nonsense_Mutation_p.S649*|STAT3_uc002hzm.1_Nonsense_Mutation_p.S649*|STAT3_uc010wgh.1_Nonsense_Mutation_p.S551*|STAT3_uc002hzn.1_Nonsense_Mutation_p.S649*	p.S649*	NM_139276	NP_644805	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	21	2186	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	649			SH2.		A8K7B8|K7ENL3|O14916|Q9BW54	Nonsense_Mutation	SNP	ENST00000264657.5	37	c.1946C>G	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	G	40	8.264211	0.98732	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.921	17.9883	0.89161	0.0:0.0:1.0:0.0	.	.	.	.	X	649;551;649	.	ENSP00000264657:S649X	S	-	2	0	STAT3	37727981	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	9.657000	0.98554	2.480000	0.83734	0.655000	0.94253	TCA		PASS	0.473	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		37	224	37	224	---	---	---	---
FAM134C	162427	broad.mit.edu	37	17	40761340	40761340	+	Start_Codon_SNP	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr17:40761340C>T	ENST00000309428.5	-	1	62	c.3G>A	c.(1-3)atG>atA	p.M1I	FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR|TUBG1_ENST00000251413.3_5'Flank	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	1						integral component of membrane (GO:0016021)		p.M1I(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CGGCCTCAGCCATCTCCCCGC	0.682																																						uc002ial.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1-3)ATG>ATA		hypothetical protein LOC162427							18.0	24.0	22.0					17																	40761340		2047	4122	6169	SO:0001582	initiator_codon_variant	162427					integral to membrane		g.chr17:40761340C>T	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.3G>A	17.37:g.40761340C>T	ENSP00000309432:p.Met1Ile					TUBG1_uc002ian.2_5'Flank|FAM134C_uc010wgq.1_5'UTR|FAM134C_uc002iam.1_5'UTR|FAM134C_uc010cyk.1_Intron	p.M1I	NM_178126	NP_835227	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	1	106	-		Breast(137;0.00116)	1					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.3G>A	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039820	0.75732	.	.	ENSG00000141699	ENST00000309428	T	0.41065	1.01	5.17	5.17	0.71159	.	0.352176	0.33005	N	0.005385	T	0.39835	0.1093	.	.	.	0.80722	D	1	B	0.33103	0.397	B	0.33960	0.173	T	0.35475	-0.9787	9	0.59425	D	0.04	-4.1915	15.5251	0.75898	0.0:0.852:0.148:0.0	.	1	Q86VR2	F134C_HUMAN	I	1	ENSP00000309432:M1I	ENSP00000309432:M1I	M	-	3	0	FAM134C	38014866	0.986000	0.35501	1.000000	0.80357	0.634000	0.38068	2.392000	0.44433	2.711000	0.92665	0.561000	0.74099	ATG		PASS	0.682	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126	Missense_Mutation	14	52	14	52	---	---	---	---
RNF43	54894	broad.mit.edu	37	17	56435697	56435697	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr17:56435697G>A	ENST00000584437.1	-	8	3395	c.1440C>T	c.(1438-1440)gtC>gtT	p.V480V	RNF43_ENST00000583753.1_Silent_p.V439V|RNF43_ENST00000500597.2_Silent_p.V439V|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Silent_p.V353V|RNF43_ENST00000407977.2_Silent_p.V480V|RNF43_ENST00000577716.1_Silent_p.V480V|RNF43_ENST00000581868.1_Silent_p.V353V			Q68DV7	RNF43_HUMAN	ring finger protein 43	480	Ser-rich.				negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.V480V(1)		NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGTGCAGTTGACCACAGAGT	0.567																																						uc002iwf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1438-1440)GTC>GTT		ring finger protein 43 precursor							80.0	80.0	80.0					17																	56435697		2203	4300	6503	SO:0001819	synonymous_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56435697G>A		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7		ENST00000584437.1:c.1440C>T	17.37:g.56435697G>A						RNF43_uc010wnv.1_Silent_p.V439V|RNF43_uc002iwh.3_Silent_p.V480V|RNF43_uc002iwg.3_Silent_p.V480V|RNF43_uc010dcw.2_Silent_p.V353V	p.V480V	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN			8	3396	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		480			Cytoplasmic (Potential).|Ser-rich.		A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Silent	SNP	ENST00000584437.1	37	c.1440C>T	CCDS11607.1																																																																																				PASS	0.567	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	NM_017763		24	67	24	67	---	---	---	---
KLHL14	57565	broad.mit.edu	37	18	30349716	30349716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr18:30349716G>T	ENST00000359358.4	-	2	1277	c.839C>A	c.(838-840)tCa>tAa	p.S280*	KLHL14_ENST00000358095.4_Nonsense_Mutation_p.S280*|AC012123.1_ENST00000426194.1_5'Flank	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	280						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)		p.S280*(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GAAATCCACTGACTGGACCCG	0.647																																						uc002kxm.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(838-840)TCA>TAA		kelch-like 14							43.0	46.0	45.0					18																	30349716		2203	4299	6502	SO:0001587	stop_gained	57565					cytosol|endoplasmic reticulum membrane		g.chr18:30349716G>T	AB037805	CCDS32813.1	18q12.1	2013-10-15	2013-01-30		ENSG00000197705	ENSG00000197705		"""Kelch-like"", ""BTB/POZ domain containing"""	29266	protein-coding gene	gene with protein product	"""printor"""	613772	"""kelch-like 14 (Drosophila)"""			10718198, 19535332	Standard	NM_020805		Approved	KIAA1384	uc002kxm.1	Q9P2G3	OTTHUMG00000179819	ENST00000359358.4:c.839C>A	18.37:g.30349716G>T	ENSP00000352314:p.Ser280*						p.S280*	NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN			2	1227	-			280					A6NNW1|B4DHA0|Q8WU41	Nonsense_Mutation	SNP	ENST00000359358.4	37	c.839C>A	CCDS32813.1	.	.	.	.	.	.	.	.	.	.	G	38	6.979025	0.97979	.	.	ENSG00000197705	ENST00000359358;ENST00000358095	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.0807	0.86598	0.0:0.0:1.0:0.0	.	.	.	.	X	280	.	ENSP00000350808:S280X	S	-	2	0	KLHL14	28603714	1.000000	0.71417	0.976000	0.42696	0.977000	0.68977	7.948000	0.87774	2.282000	0.76494	0.455000	0.32223	TCA		PASS	0.647	KLHL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448376.1			9	63	9	63	---	---	---	---
HAUS1	115106	broad.mit.edu	37	18	43703282	43703282	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr18:43703282A>T	ENST00000282058.6	+	6	698	c.618A>T	c.(616-618)agA>agT	p.R206S	HAUS1_ENST00000588704.1_3'UTR|RNU6-1278P_ENST00000516130.1_RNA|HAUS1_ENST00000585518.1_Missense_Mutation_p.R75W	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	206					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.R206S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TTTCAGCCAGAGGCATGGATG	0.328																																					NSCLC(79;183 1423 5813 15597 38427)	uc002lbu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(616-618)AGA>AGT		coiled-coil domain containing 5							95.0	102.0	99.0					18																	43703282		2203	4300	6503	SO:0001583	missense	115106				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr18:43703282A>T	AY360137	CCDS11928.1	18q21.1	2013-10-11	2009-04-20	2009-04-20	ENSG00000152240	ENSG00000152240		"""HAUS augmin-like complex subunits"""	25174	protein-coding gene	gene with protein product		608775	"""coiled-coil domain containing 5 (spindle associated)"""	CCDC5		19427217	Standard	NR_026978		Approved	HEI-C, HsT1461, FLJ40084	uc002lbu.3	Q96CS2	OTTHUMG00000132638	ENST00000282058.6:c.618A>T	18.37:g.43703282A>T	ENSP00000282058:p.Arg206Ser					HAUS1_uc002lbv.2_Missense_Mutation_p.R130S	p.R206S	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN			6	698	+			206					B2RDM7|Q8N837	Missense_Mutation	SNP	ENST00000282058.6	37	c.618A>T	CCDS11928.1	.	.	.	.	.	.	.	.	.	.	A	10.74	1.435364	0.25813	.	.	ENSG00000152240	ENST00000282058	.	.	.	5.28	0.194	0.15143	.	0.090921	0.64402	D	0.000001	T	0.41903	0.1179	L	0.58669	1.825	0.40724	D	0.982686	B	0.17667	0.023	B	0.15484	0.013	T	0.17868	-1.0355	9	0.09084	T	0.74	-37.7801	4.4273	0.11509	0.5347:0.0:0.3224:0.1429	.	206	Q96CS2	HAUS1_HUMAN	S	206	.	ENSP00000282058:R206S	R	+	3	2	HAUS1	41957280	0.996000	0.38824	0.941000	0.38009	0.995000	0.86356	0.218000	0.17622	-0.122000	0.11766	0.460000	0.39030	AGA		PASS	0.328	HAUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255885.1	NM_138443		42	106	42	106	---	---	---	---
DSEL	92126	broad.mit.edu	37	18	65179671	65179671	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr18:65179671C>A	ENST00000310045.7	-	2	3678	c.2205G>T	c.(2203-2205)aaG>aaT	p.K735N	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	725					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)	p.K735N(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TGAATCTTGTCTTCAGGTTAT	0.398																																						uc002lke.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(2203-2205)AAG>AAT		dermatan sulfate epimerase-like							55.0	56.0	56.0					18																	65179671		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65179671C>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.2205G>T	18.37:g.65179671C>A	ENSP00000310565:p.Lys735Asn						p.K735N	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	3429	-		Esophageal squamous(42;0.129)	725					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.2205G>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	C	6.627	0.484068	0.12581	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.18174	2.23	5.09	-3.09	0.05331	.	0.143293	0.46758	U	0.000262	T	0.10121	0.0248	L	0.51422	1.61	0.27743	N	0.944429	B	0.02656	0.0	B	0.01281	0.0	T	0.23904	-1.0175	10	0.23302	T	0.38	.	2.1282	0.03743	0.1081:0.4018:0.2344:0.2557	.	725	Q8IZU8	DSEL_HUMAN	N	735;725	ENSP00000310565:K735N	ENSP00000310565:K735N	K	-	3	2	DSEL	63330651	0.954000	0.32549	0.006000	0.13384	0.994000	0.84299	0.031000	0.13710	-0.970000	0.03569	0.455000	0.32223	AAG		PASS	0.398	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160		11	32	11	32	---	---	---	---
TSHZ1	10194	broad.mit.edu	37	18	72998506	72998506	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr18:72998506G>C	ENST00000580243.1	+	2	1492	c.1144G>C	c.(1144-1146)Gat>Cat	p.D382H	TSHZ1_ENST00000322038.5_Missense_Mutation_p.D337H			Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	382					anterior/posterior pattern specification (GO:0009952)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|soft palate development (GO:0060023)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D337H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		GTCAGCCAAGGATCAGAAAGC	0.632																																						uc002lly.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1009-1011)GAT>CAT		teashirt family zinc finger 1							102.0	107.0	105.0					18																	72998506		2203	4300	6503	SO:0001583	missense	10194					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:72998506G>C	AF039698	CCDS12009.1	18q22.3	2013-11-20	2007-07-16	2006-03-14	ENSG00000179981	ENSG00000179981		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	10669	protein-coding gene	gene with protein product		614427	"""serologically defined colon cancer antigen 33"", ""teashirt zinc finger 1"", ""teashirt family zinc finger 1"""	SDCCAG33		17586487	Standard	NM_005786		Approved	NY-CO-33, TSH1	uc002lly.4	Q6ZSZ6	OTTHUMG00000132859	ENST00000580243.1:c.1144G>C	18.37:g.72998506G>C	ENSP00000464391:p.Asp382His						p.D337H	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)	2	1572	+		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)	382					O60534|Q4LE29|Q53EU4	Missense_Mutation	SNP	ENST00000580243.1	37	c.1009G>C		.	.	.	.	.	.	.	.	.	.	G	9.595	1.127168	0.20959	.	.	ENSG00000179981	ENST00000322038	T	0.12361	2.69	5.27	5.27	0.74061	.	0.107684	0.64402	D	0.000008	T	0.19685	0.0473	L	0.55481	1.735	0.47276	D	0.999371	P	0.50710	0.938	B	0.43360	0.417	T	0.01352	-1.1377	10	0.45353	T	0.12	-28.6066	18.8997	0.92437	0.0:0.0:1.0:0.0	.	382	Q6ZSZ6	TSH1_HUMAN	H	337	ENSP00000323584:D337H	ENSP00000323584:D337H	D	+	1	0	TSHZ1	71127494	1.000000	0.71417	1.000000	0.80357	0.391000	0.30476	9.282000	0.95840	1.986000	0.57962	0.459000	0.35465	GAT		PASS	0.632	TSHZ1-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444913.1	NM_005786		16	35	16	35	---	---	---	---
SALL3	27164	broad.mit.edu	37	18	76755006	76755006	+	Silent	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr18:76755006C>T	ENST00000537592.2	+	2	3015	c.3015C>T	c.(3013-3015)ttC>ttT	p.F1005F	SALL3_ENST00000536229.3_Intron|SALL3_ENST00000575389.2_Intron	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1005					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|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.F1005F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGCGGCCATTCGTCTGCGCGC	0.517																																						uc002lmt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3013-3015)TTC>TTT		sal-like 3							69.0	70.0	69.0					18																	76755006		2203	4300	6503	SO:0001819	synonymous_variant	27164				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:76755006C>T	AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3015C>T	18.37:g.76755006C>T						SALL3_uc010dra.2_Intron	p.F1005F	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)	2	3015	+		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)	1005			C2H2-type 7.		Q9UGH1	Silent	SNP	ENST00000537592.2	37	c.3015C>T	CCDS12013.1																																																																																				PASS	0.517	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256397.1	NM_171999		12	54	12	54	---	---	---	---
HCN2	610	broad.mit.edu	37	19	603849	603849	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:603849A>T	ENST00000251287.2	+	2	991	c.938A>T	c.(937-939)gAc>gTc	p.D313V		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	313					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.D313V(1)		endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AAGGGCATTGACTCCGAGGTC	0.587																																					Melanoma(145;1175 2427 8056 36306)	uc002lpe.2																			1	Substitution - Missense(1)		lung(1)		0						c.(937-939)GAC>GTC		hyperpolarization activated cyclic							126.0	96.0	106.0					19																	603849		2200	4299	6499	SO:0001583	missense	610				cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr19:603849A>T	AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.938A>T	19.37:g.603849A>T	ENSP00000251287:p.Asp313Val						p.D313V	NM_001194	NP_001185	Q9UL51	HCN2_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)	2	991	+		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	313			Extracellular (Potential).		O60742|O60743|O75267|Q9UBS2	Missense_Mutation	SNP	ENST00000251287.2	37	c.938A>T	CCDS12035.1	.	.	.	.	.	.	.	.	.	.	.	15.85	2.955826	0.53293	.	.	ENSG00000099822	ENST00000251287	D	0.97161	-4.27	2.78	2.78	0.32641	Ion transport (1);	.	.	.	.	D	0.96849	0.8971	M	0.88775	2.98	0.80722	D	1	B	0.32968	0.392	B	0.37989	0.262	D	0.97106	0.9801	9	0.66056	D	0.02	.	10.4063	0.44258	1.0:0.0:0.0:0.0	.	313	Q9UL51	HCN2_HUMAN	V	313	ENSP00000251287:D313V	ENSP00000251287:D313V	D	+	2	0	HCN2	554849	1.000000	0.71417	1.000000	0.80357	0.373000	0.29922	8.861000	0.92277	1.308000	0.44962	0.158000	0.16466	GAC		PASS	0.587	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194		15	40	15	40	---	---	---	---
POLRMT	5442	broad.mit.edu	37	19	619277	619277	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:619277G>A	ENST00000588649.2	-	14	3170	c.3086C>T	c.(3085-3087)tCt>tTt	p.S1029F	AC005559.2_ENST00000591847.1_RNA	NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1029	Mediates interaction with TEFM.				gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)	p.S1029F(1)		cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GAGATAGTGAGAGGCCTCCCA	0.637																																						uc002lpf.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(3085-3087)TCT>TTT		mitochondrial DNA-directed RNA polymerase							76.0	80.0	79.0					19																	619277		2203	4300	6503	SO:0001583	missense	5442				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding	g.chr19:619277G>A		CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.3086C>T	19.37:g.619277G>A	ENSP00000465759:p.Ser1029Phe						p.S1029F	NM_005035	NP_005026	O00411	RPOM_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)	14	3142	-		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	1029			Mediates interaction with TEFM.		O60370	Missense_Mutation	SNP	ENST00000588649.2	37	c.3086C>T	CCDS12036.1	.	.	.	.	.	.	.	.	.	.	.	16.30	3.084741	0.55861	.	.	ENSG00000099821	ENST00000215591	T	0.46063	0.88	3.96	3.96	0.45880	.	0.066757	0.64402	D	0.000006	T	0.72260	0.3438	H	0.94582	3.555	0.80722	D	1	D	0.67145	0.996	D	0.69824	0.966	T	0.82024	-0.0662	10	0.87932	D	0	-21.0678	14.767	0.69646	0.0:0.0:1.0:0.0	.	1029	O00411	RPOM_HUMAN	F	1029	ENSP00000215591:S1029F	ENSP00000215591:S1029F	S	-	2	0	POLRMT	570277	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	6.811000	0.75221	2.045000	0.60652	0.456000	0.33151	TCT		PASS	0.637	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3	NM_005035		5	100	5	100	---	---	---	---
DOT1L	84444	broad.mit.edu	37	19	2185903	2185903	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:2185903G>A	ENST00000398665.3	+	3	211	c.175G>A	c.(175-177)Gtt>Att	p.V59I		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	59	DOT1. {ECO:0000255|PROSITE- ProRule:PRU00902}.				histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)	p.V59I(2)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		GGAGAATTACGTTTTAATTGA	0.493																																						uc002lvb.3																			2	Substitution - Missense(2)		lung(2)	pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(175-177)GTT>ATT		DOT1-like, histone H3 methyltransferase							282.0	290.0	287.0					19																	2185903		1909	4124	6033	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2185903G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.175G>A	19.37:g.2185903G>A	ENSP00000381657:p.Val59Ile						p.V59I	NM_032482	NP_115871	Q8TEK3	DOT1L_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	211	+		Hepatocellular(1079;0.137)	59					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.175G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802953	0.31869	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000452696	T;T	0.25085	1.82;1.82	4.68	4.68	0.58851	.	0.000000	0.64402	D	0.000001	T	0.09468	0.0233	N	0.01209	-0.955	0.53688	D	0.99997	P	0.36633	0.562	B	0.25614	0.062	T	0.32161	-0.9917	10	0.87932	D	0	-15.1177	16.7592	0.85507	0.0:0.0:1.0:0.0	.	59	Q8TEK3-2	.	I	59	ENSP00000381657:V59I;ENSP00000404284:V59I	ENSP00000221482:V59I	V	+	1	0	DOT1L	2136903	1.000000	0.71417	0.050000	0.19076	0.406000	0.30931	8.709000	0.91379	2.421000	0.82119	0.563000	0.77884	GTT		PASS	0.493	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482		18	424	18	424	---	---	---	---
STAP2	55620	broad.mit.edu	37	19	4329999	4329999	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:4329999G>A	ENST00000594605.1	-	5	537	c.414C>T	c.(412-414)gtC>gtT	p.V138V	STAP2_ENST00000597593.1_5'Flank|STAP2_ENST00000600324.1_Silent_p.V138V	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	138	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.V138V(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTGGCCAAGACTTCAGACA	0.647																																						uc002mab.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(412-414)GTC>GTT		signal transducing adaptor family member 2							89.0	70.0	76.0					19																	4329999		2203	4300	6503	SO:0001819	synonymous_variant	55620					cytoplasm|nucleus	protein binding	g.chr19:4329999G>A	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.414C>T	19.37:g.4329999G>A						STAP2_uc002mac.2_Silent_p.V138V|STAP2_uc002mad.2_Silent_p.V31V	p.V138V	NM_001013841	NP_001013863	Q9UGK3	STAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)	5	511	-		Hepatocellular(1079;0.137)	138			SH2.		A6NKK3|Q9NXI2	Silent	SNP	ENST00000594605.1	37	c.414C>T	CCDS45926.1																																																																																				PASS	0.647	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841		6	32	6	32	---	---	---	---
EMR1	2015	broad.mit.edu	37	19	6921840	6921840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:6921840C>A	ENST00000312053.4	+	14	1774	c.1737C>A	c.(1735-1737)tgC>tgA	p.C579*	EMR1_ENST00000450315.3_Nonsense_Mutation_p.C402*|EMR1_ENST00000381407.5_Nonsense_Mutation_p.C438*|EMR1_ENST00000381404.4_Nonsense_Mutation_p.C527*|EMR1_ENST00000250572.8_Nonsense_Mutation_p.C579*	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	579	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.|Ser/Thr-rich.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.C579*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATACCATCTGCAGCTGTAATC	0.502																																						uc002mfw.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(1735-1737)TGC>TGA		egf-like module containing, mucin-like, hormone							165.0	142.0	149.0					19																	6921840		2203	4300	6503	SO:0001587	stop_gained	2015				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:6921840C>A	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.1737C>A	19.37:g.6921840C>A	ENSP00000311545:p.Cys579*					EMR1_uc010dvc.2_Nonsense_Mutation_p.C579*|EMR1_uc010dvb.2_Nonsense_Mutation_p.C527*|EMR1_uc010xji.1_Nonsense_Mutation_p.C438*|EMR1_uc010xjj.1_Nonsense_Mutation_p.C402*	p.C579*	NM_001974	NP_001965	Q14246	EMR1_HUMAN			14	1775	+	all_hematologic(4;0.166)		579			GPS.|Extracellular (Potential).|Ser/Thr-rich.		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Nonsense_Mutation	SNP	ENST00000312053.4	37	c.1737C>A	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.549533	0.86127	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407;ENST00000450315	.	.	.	4.43	-1.41	0.08941	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.1059	0.30885	0.0:0.5289:0.0:0.4711	.	.	.	.	X	579;579;527;579;438;402	.	ENSP00000250572:C579X	C	+	3	2	EMR1	6872840	0.937000	0.31787	0.253000	0.24343	0.009000	0.06853	0.074000	0.14662	-0.111000	0.12001	-0.145000	0.13849	TGC		PASS	0.502	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1			25	117	25	117	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9017356	9017356	+	Silent	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:9017356G>C	ENST00000397910.4	-	26	38171	c.37968C>G	c.(37966-37968)ctC>ctG	p.L12656L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12658	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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.L12656L(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						CATTGACATAGAGACTGTTCC	0.567																																						uc002mkp.2																			1	Substitution - coding silent(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(37966-37968)CTC>CTG		mucin 16							192.0	177.0	182.0					19																	9017356		1963	4157	6120	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9017356G>C	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.37968C>G	19.37:g.9017356G>C							p.L12656L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			26	38172	-			12658			SEA 4.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.37968C>G	CCDS54212.1																																																																																				PASS	0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		24	259	24	259	---	---	---	---
OR7D4	125958	broad.mit.edu	37	19	9324709	9324710	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:9324709_9324710GG>TT	ENST00000308682.2	-	1	832_833	c.804_805CC>AA	c.(802-807)tcCCag>tcAAag	p.Q269K		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q269K(2)|p.S268S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GAGCTGCTCTGGGAAGAATGGG	0.545																																						uc002mla.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)	|p.S268F(1)	lung(3)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(805-807)CAG>AAG|c.(802-804)TCC>TCA		olfactory receptor, family 7, subfamily D,																																				SO:0001583	missense	125958				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9324709G>T|g.chr19:9324710G>T		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.804_805delinsTT	19.37:g.9324709_9324710delinsTT	ENSP00000310488:p.Gln269Lys						p.Q269K|p.S268S	NM_001005191	NP_001005191	Q8NG98	OR7D4_HUMAN			1	805|804	-			269|268			Extracellular (Potential).		A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation|Silent	SNP	ENST00000308682.2	37	c.805C>A|c.804C>A	CCDS32901.1																																																																																				PASS	0.545	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1			7	46|44	7	44	---	---	---	---
PRKCSH	5589	broad.mit.edu	37	19	11547298	11547298	+	Silent	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:11547298C>T	ENST00000589838.1	+	2	168	c.168C>T	c.(166-168)tgC>tgT	p.C56C	PRKCSH_ENST00000591462.1_Silent_p.C56C|CCDC151_ENST00000545100.1_5'Flank|PRKCSH_ENST00000587327.1_Silent_p.C56C|CCDC151_ENST00000356392.4_5'Flank|CCDC151_ENST00000586836.1_5'Flank|CCDC151_ENST00000591179.1_5'Flank|PRKCSH_ENST00000592741.1_Silent_p.C56C|PRKCSH_ENST00000252455.2_Silent_p.C56C|PRKCSH_ENST00000412601.1_Silent_p.C56C|snoU13_ENST00000459022.1_RNA			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	56					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.C56C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ATGACTATTGCGACTGCAAAG	0.517																																						uc002mrt.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(166-168)TGC>TGT		protein kinase C substrate 80K-H isoform 1							96.0	70.0	79.0					19																	11547298		2203	4300	6503	SO:0001819	synonymous_variant	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11547298C>T		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.168C>T	19.37:g.11547298C>T						CCDC151_uc002mrs.2_5'Flank|CCDC151_uc010dxz.2_5'Flank|PRKCSH_uc002mru.2_Silent_p.C56C|PRKCSH_uc010xlz.1_Silent_p.C56C|PRKCSH_uc010dya.2_Missense_Mutation_p.A25V|PRKCSH_uc002mrv.1_Silent_p.C56C|PRKCSH_uc010dyb.2_Silent_p.C56C	p.C56C	NM_002743	NP_002734	P14314	GLU2B_HUMAN			3	504	+			56					A8K318|Q96BU9|Q96D06|Q9P0W9	Silent	SNP	ENST00000589838.1	37	c.168C>T	CCDS32911.1																																																																																				PASS	0.517	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			3	37	3	37	---	---	---	---
ZNF443	10224	broad.mit.edu	37	19	12541337	12541337	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:12541337T>C	ENST00000301547.5	-	4	1846	c.1649A>G	c.(1648-1650)cAt>cGt	p.H550R	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	550					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H550R(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						AATTCTTTCATGTACCTTTAA	0.393																																						uc002mtu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1648-1650)CAT>CGT		zinc finger protein 443							111.0	108.0	109.0					19																	12541337		2203	4300	6503	SO:0001583	missense	10224				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12541337T>C	AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1649A>G	19.37:g.12541337T>C	ENSP00000301547:p.His550Arg						p.H550R	NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN			4	1847	-			550			C2H2-type 15.			Missense_Mutation	SNP	ENST00000301547.5	37	c.1649A>G	CCDS32918.1	.	.	.	.	.	.	.	.	.	.	T	15.04	2.713964	0.48622	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	D	0.86865	-2.18	1.37	1.37	0.22104	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94850	0.8336	H	0.97611	4.04	0.32407	N	0.551143	D	0.89917	1.0	D	0.77557	0.99	D	0.92688	0.6164	9	0.87932	D	0	.	8.1902	0.31363	0.0:0.0:0.0:1.0	.	550	Q9Y2A4	ZN443_HUMAN	R	550	ENSP00000301547:H550R	ENSP00000301547:H550R	H	-	2	0	ZNF443	12402337	1.000000	0.71417	0.004000	0.12327	0.120000	0.20174	6.267000	0.72546	0.893000	0.36288	0.378000	0.23410	CAT		PASS	0.393	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344084.1	NM_005815		23	77	23	77	---	---	---	---
CALR	811	broad.mit.edu	37	19	13054428	13054428	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:13054428G>A	ENST00000316448.5	+	8	1111	c.1038G>A	c.(1036-1038)acG>acA	p.T346T	RAD23A_ENST00000541222.1_5'Flank|RAD23A_ENST00000316856.3_5'Flank|RAD23A_ENST00000586534.1_5'Flank|CTC-425F1.4_ENST00000589120.1_RNA|RAD23A_ENST00000592268.1_5'Flank	NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	346	C-domain.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|cellular response to lithium ion (GO:0071285)|cellular senescence (GO:0090398)|chaperone-mediated protein folding (GO:0061077)|cortical actin cytoskeleton organization (GO:0030866)|endoplasmic reticulum unfolded protein response (GO:0030968)|glucocorticoid receptor signaling pathway (GO:0042921)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|peptide antigen assembly with MHC class I protein complex (GO:0002502)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of DNA replication (GO:0045740)|positive regulation of gene expression (GO:0010628)|positive regulation of phagocytosis (GO:0050766)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|post-translational protein modification (GO:0043687)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein localization to nucleus (GO:0034504)|protein maturation by protein folding (GO:0022417)|protein N-linked glycosylation via asparagine (GO:0018279)|protein stabilization (GO:0050821)|regulation of apoptotic process (GO:0042981)|regulation of meiosis (GO:0040020)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to testosterone (GO:0033574)|sequestering of calcium ion (GO:0051208)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|intracellular (GO:0005622)|membrane (GO:0016020)|MHC class I peptide loading complex (GO:0042824)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasmic reticulum (GO:0016529)	androgen receptor binding (GO:0050681)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|chaperone binding (GO:0051087)|complement component C1q binding (GO:0001849)|DNA binding (GO:0003677)|glycoprotein binding (GO:0001948)|hormone binding (GO:0042562)|integrin binding (GO:0005178)|iron ion binding (GO:0005506)|mRNA binding (GO:0003729)|peptide binding (GO:0042277)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)	p.T346T(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Antihemophilic Factor(DB00025)|Melatonin(DB01065)|Tenecteplase(DB00031)	GCAACGAGACGTGGGGCGTAA	0.602																																						uc002mvu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1036-1038)ACG>ACA		calreticulin precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)						146.0	118.0	127.0					19																	13054428		2203	4300	6503	SO:0001819	synonymous_variant	811				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding	g.chr19:13054428G>A	M84739	CCDS12288.1	19p13.3-p13.2	2014-09-17				ENSG00000179218			1455	protein-coding gene	gene with protein product	"""Sicca syndrome antigen A (autoantigen Ro; calreticulin)"", ""autoantigen Ro"""	109091				2365822	Standard	NM_004343		Approved	RO, SSA, cC1qR, CRT, FLJ26680	uc002mvu.2	P27797		ENST00000316448.5:c.1038G>A	19.37:g.13054428G>A						CALR_uc002mvv.2_5'Flank|RAD23A_uc002mvw.1_5'Flank|RAD23A_uc002mvx.1_5'Flank|RAD23A_uc002mvz.1_5'Flank|RAD23A_uc002mwa.1_5'Flank|RAD23A_uc002mvy.1_5'Flank|RAD23A_uc010xmw.1_5'Flank	p.T346T	NM_004343	NP_004334	P27797	CALR_HUMAN			8	1118	+			346			C-domain.		Q6IAT4|Q9UDG2	Silent	SNP	ENST00000316448.5	37	c.1038G>A	CCDS12288.1																																																																																				PASS	0.602	CALR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451952.1	NM_004343		10	41	10	41	---	---	---	---
EMR2	30817	broad.mit.edu	37	19	14883226	14883226	+	Missense_Mutation	SNP	C	C	A	rs115448457	byFrequency	TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:14883226C>A	ENST00000315576.3	-	5	734	c.283G>T	c.(283-285)Gtg>Ttg	p.V95L	EMR2_ENST00000353876.1_Missense_Mutation_p.V95L|EMR2_ENST00000392967.2_Missense_Mutation_p.V95L|EMR2_ENST00000353005.1_Missense_Mutation_p.V95L|EMR2_ENST00000594076.1_Missense_Mutation_p.V95L|EMR2_ENST00000346057.1_Missense_Mutation_p.V95L|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000595839.1_Missense_Mutation_p.V95L|EMR2_ENST00000594294.1_Missense_Mutation_p.V95L|EMR2_ENST00000601345.1_Missense_Mutation_p.V95L|EMR2_ENST00000392965.3_Missense_Mutation_p.V95L|EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000596991.2_Missense_Mutation_p.V95L	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	95	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)	p.V95L(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGGCTGCACACGCAGTCGTAG	0.512																																						uc002mzp.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(1)|skin(1)	4						c.(283-285)GTG>TTG		egf-like module containing, mucin-like, hormone							232.0	168.0	190.0					19																	14883226		2203	4300	6503	SO:0001583	missense	30817				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14883226C>A	AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.283G>T	19.37:g.14883226C>A	ENSP00000319883:p.Val95Leu					EMR2_uc010xnw.1_Missense_Mutation_p.V95L|EMR2_uc002mzo.1_Missense_Mutation_p.V95L|EMR2_uc002mzq.1_Missense_Mutation_p.V95L|EMR2_uc002mzr.1_Missense_Mutation_p.V95L|EMR2_uc002mzs.1_Missense_Mutation_p.V95L|EMR2_uc002mzt.1_Missense_Mutation_p.V95L|EMR2_uc002mzu.1_Missense_Mutation_p.V95L|EMR2_uc010xnx.1_RNA|EMR2_uc010xny.1_RNA	p.V95L	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN			5	739	-			95			Extracellular (Potential).|EGF-like 2; calcium-binding.		B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	ENST00000315576.3	37	c.283G>T	CCDS32935.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599294	0.28534	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	D;D;D;D;D;D;D	0.92199	-2.99;-2.99;-2.99;-2.99;-2.99;-2.99;-2.99	3.95	-1.38	0.09027	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	T	0.76793	0.4037	N	0.04880	-0.145	0.09310	N	1	B;B;B;B;B;B;B	0.16802	0.0;0.003;0.001;0.001;0.019;0.001;0.017	B;B;B;B;B;B;B	0.14023	0.0;0.002;0.004;0.002;0.01;0.006;0.008	T	0.63051	-0.6723	9	0.11794	T	0.64	.	4.3054	0.10944	0.0:0.398:0.1875:0.4145	.	95;95;95;95;95;95;95	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	L	95	ENSP00000319883:V95L;ENSP00000376694:V95L;ENSP00000263380:V95L;ENSP00000319454:V95L;ENSP00000319838:V95L;ENSP00000376692:V95L;ENSP00000376689:V95L	ENSP00000319883:V95L	V	-	1	0	EMR2	14744226	0.000000	0.05858	0.001000	0.08648	0.181000	0.23173	-1.962000	0.01514	-0.674000	0.05253	0.518000	0.50308	GTG		PASS	0.512	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466502.2			29	77	29	77	---	---	---	---
ZNF14	7561	broad.mit.edu	37	19	19822987	19822987	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:19822987C>A	ENST00000344099.3	-	4	1241	c.1103G>T	c.(1102-1104)tGt>tTt	p.C368F		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	368					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.C368F(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TGATTTGCCACATCGTTTACA	0.363																																						uc002nnk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1102-1104)TGT>TTT		zinc finger protein 14							92.0	91.0	92.0					19																	19822987		2203	4300	6503	SO:0001583	missense	7561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19822987C>A	AA286756	CCDS12409.1	19p13.11	2013-01-08	2006-05-10					"""Zinc fingers, C2H2-type"", ""-"""	12924	protein-coding gene	gene with protein product		194556	"""zinc finger protein 14 (KOX 6)"""				Standard	NM_021030		Approved	KOX6, GIOT-4	uc002nnk.1	P17017		ENST00000344099.3:c.1103G>T	19.37:g.19822987C>A	ENSP00000340514:p.Cys368Phe						p.C368F	NM_021030	NP_066358	P17017	ZNF14_HUMAN			4	1257	-		Renal(1328;0.0474)	368			C2H2-type 10.		B9EGA4|Q9ULZ5	Missense_Mutation	SNP	ENST00000344099.3	37	c.1103G>T	CCDS12409.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.825878	0.50739	.	.	ENSG00000105708	ENST00000344099	D	0.85861	-2.04	1.86	1.86	0.25419	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.95411	0.8510	H	0.99877	4.88	0.37336	D	0.910197	D	0.89917	1.0	D	0.87578	0.998	D	0.94964	0.8111	9	0.87932	D	0	.	9.275	0.37694	0.0:1.0:0.0:0.0	.	368	P17017	ZNF14_HUMAN	F	368	ENSP00000340514:C368F	ENSP00000340514:C368F	C	-	2	0	ZNF14	19683987	1.000000	0.71417	0.004000	0.12327	0.134000	0.20937	5.292000	0.65673	1.032000	0.39892	0.467000	0.42956	TGT		PASS	0.363	ZNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460775.1	NM_021030		5	75	5	75	---	---	---	---
LGI4	163175	broad.mit.edu	37	19	35617286	35617286	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:35617286C>A	ENST00000310123.3	-	8	1706	c.1187G>T	c.(1186-1188)cGc>cTc	p.R396L	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_Missense_Mutation_p.A422S	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	396					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)		p.R396L(1)		endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TCTCTCGAAGCGGCCACCGGT	0.677																																						uc002nxx.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1186-1188)CGC>CTC		leucine-rich repeat LGI family, member 4							24.0	24.0	24.0					19																	35617286		2202	4300	6502	SO:0001583	missense	163175					extracellular region		g.chr19:35617286C>A	AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.1187G>T	19.37:g.35617286C>A	ENSP00000312273:p.Arg396Leu					LGI4_uc002nxy.1_Missense_Mutation_p.R224L|LGI4_uc002nxz.1_Missense_Mutation_p.R224L	p.R396L	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)		8	1781	-	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		396			EAR 3.		B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	ENST00000310123.3	37	c.1187G>T	CCDS12444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.50|18.50	3.637096|3.637096	0.67130|0.67130	.|.	.|.	ENSG00000153902|ENSG00000153902	ENST00000392225|ENST00000310123;ENST00000437421	T|T	0.67865|0.80653	-0.29|-1.4	3.98|3.98	3.98|3.98	0.46160|0.46160	.|.	.|0.227130	.|0.31071	.|N	.|0.008303	T|T	0.71074|0.71074	0.3297|0.3297	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|P;P	.|0.43519	.|0.809;0.809	.|P;P	.|0.47744	.|0.556;0.478	T|T	0.73978|0.73978	-0.3812|-0.3812	7|10	0.87932|0.59425	D|D	0|0.04	.|.	9.6407|9.6407	0.39837|0.39837	0.0:0.7868:0.2132:0.0|0.0:0.7868:0.2132:0.0	.|.	.|307;396	.|Q658V8;Q8N135	.|.;LGI4_HUMAN	S|L	422|396	ENSP00000376059:A422S|ENSP00000312273:R396L	ENSP00000376059:A422S|ENSP00000312273:R396L	A|R	-|-	1|2	0|0	LGI4|LGI4	40309126|40309126	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	1.071000|1.071000	0.30666|0.30666	2.076000|2.076000	0.62316|0.62316	0.585000|0.585000	0.79938|0.79938	GCT|CGC		PASS	0.677	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103963.1			5	23	5	23	---	---	---	---
ZNF565	147929	broad.mit.edu	37	19	36673999	36673999	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:36673999C>G	ENST00000355114.5	-	5	1715	c.989G>C	c.(988-990)cGt>cCt	p.R330P	ZNF565_ENST00000304116.5_Missense_Mutation_p.R290P|ZNF565_ENST00000392173.2_Missense_Mutation_p.R290P			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	330					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.R290P(1)		large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TTGGGAGCCACGAATGAAAGC	0.502																																						uc002odn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(868-870)CGT>CCT		zinc finger protein 565							94.0	83.0	87.0					19																	36673999		2203	4300	6503	SO:0001583	missense	147929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36673999C>G	AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.989G>C	19.37:g.36673999C>G	ENSP00000347234:p.Arg330Pro					ZNF565_uc010ees.2_Missense_Mutation_p.R225P|ZNF565_uc002odo.2_Missense_Mutation_p.R290P	p.R290P	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.206)		5	977	-	Esophageal squamous(110;0.162)		290			C2H2-type 5.		B3KQ35|Q6NUS2	Missense_Mutation	SNP	ENST00000355114.5	37	c.869G>C		.	.	.	.	.	.	.	.	.	.	c	8.719	0.913942	0.17907	.	.	ENSG00000196357	ENST00000392173;ENST00000304116;ENST00000355114	T;T;T	0.07908	3.15;3.15;3.15	4.27	2.14	0.27477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39985	N	0.001214	T	0.22551	0.0544	M	0.87827	2.91	0.09310	N	1	D	0.71674	0.998	P	0.59424	0.857	T	0.03130	-1.1069	10	0.54805	T	0.06	.	5.4122	0.16354	0.0:0.6743:0.0:0.3257	.	290	Q8N9K5	ZN565_HUMAN	P	290;290;330	ENSP00000376013:R290P;ENSP00000306869:R290P;ENSP00000347234:R330P	ENSP00000306869:R290P	R	-	2	0	ZNF565	41365839	0.000000	0.05858	0.996000	0.52242	0.004000	0.04260	-0.033000	0.12246	1.151000	0.42436	0.585000	0.79938	CGT		PASS	0.502	ZNF565-003	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000451697.1	NM_152477		8	93	8	93	---	---	---	---
ZNF829	374899	broad.mit.edu	37	19	37382620	37382620	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:37382620C>G	ENST00000391711.3	-	6	1437	c.1073G>C	c.(1072-1074)aGa>aCa	p.R358T	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000526123.1_Intron|ZNF829_ENST00000520965.1_Missense_Mutation_p.R439T	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	358					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.R358T(1)		endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGGCCTTTCTACATTCTTC	0.378																																						uc002ofa.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1072-1074)AGA>ACA		zinc finger protein 829							66.0	70.0	69.0					19																	37382620		2186	4291	6477	SO:0001583	missense	374899				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37382620C>G	BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.1073G>C	19.37:g.37382620C>G	ENSP00000429266:p.Arg358Thr					ZNF345_uc002oez.2_Intron	p.R358T	NM_001037232	NP_001032309	Q3KNS6	ZN829_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1435	-	Esophageal squamous(110;0.183)		358			C2H2-type 8.		Q3KNS7|Q6ZNN0|Q7Z657	Missense_Mutation	SNP	ENST00000391711.3	37	c.1073G>C	CCDS42557.1	.	.	.	.	.	.	.	.	.	.	C	7.309	0.614677	0.14129	.	.	ENSG00000185869	ENST00000520965;ENST00000391711	T	0.15017	2.46	3.05	2.01	0.26516	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08891	0.0220	N	0.04655	-0.195	0.25147	N	0.990454	B	0.14012	0.009	B	0.21360	0.034	T	0.30794	-0.9966	9	0.87932	D	0	.	9.7709	0.40589	0.0:0.8883:0.0:0.1117	.	358	Q3KNS6	ZN829_HUMAN	T	358	ENSP00000429266:R358T	ENSP00000429266:R358T	R	-	2	0	ZNF829	42074460	0.101000	0.21875	0.999000	0.59377	0.187000	0.23431	2.591000	0.46163	0.855000	0.35359	-0.259000	0.10710	AGA		PASS	0.378	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109575.3	NM_001037232		9	29	9	29	---	---	---	---
ZNF540	163255	broad.mit.edu	37	19	38090575	38090575	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:38090575T>C	ENST00000592533.1	+	3	390	c.58T>C	c.(58-60)Tgg>Cgg	p.W20R	ZNF540_ENST00000586792.1_Intron|ZNF540_ENST00000343599.5_Missense_Mutation_p.W20R|ZNF540_ENST00000589117.1_Missense_Mutation_p.W20R|ZNF540_ENST00000316433.4_Missense_Mutation_p.W20R|ZNF540_ENST00000587220.1_3'UTR	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	20	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)	p.W20R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAGAAGGAATGGGAGTGCCT	0.403																																						uc002ogq.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(58-60)TGG>CGG		zinc finger protein 540							195.0	192.0	193.0					19																	38090575		2203	4300	6503	SO:0001583	missense	163255				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38090575T>C	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.58T>C	19.37:g.38090575T>C	ENSP00000466274:p.Trp20Arg					ZNF540_uc002ogu.2_Missense_Mutation_p.W20R|ZNF540_uc010efq.2_Missense_Mutation_p.W20R	p.W20R	NM_152606	NP_689819	Q8NDQ6	ZN540_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		3	390	+			20			KRAB.		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Missense_Mutation	SNP	ENST00000592533.1	37	c.58T>C	CCDS12506.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.927894	0.73327	.	.	ENSG00000171817	ENST00000316433;ENST00000343599	T;T	0.10288	2.89;2.89	2.04	2.04	0.26737	Krueppel-associated box (4);	.	.	.	.	T	0.42765	0.1217	H	0.97265	3.97	0.26146	N	0.98021	D;D	0.69078	0.997;0.997	D;D	0.76575	0.979;0.988	T	0.27297	-1.0078	9	0.87932	D	0	.	6.3335	0.21282	0.0:0.0:0.0:1.0	.	20;20	Q8NDQ6-2;Q8NDQ6	.;ZN540_HUMAN	R	20	ENSP00000324598:W20R;ENSP00000343768:W20R	ENSP00000324598:W20R	W	+	1	0	ZNF540	42782415	1.000000	0.71417	0.873000	0.34254	0.956000	0.61745	3.381000	0.52455	0.867000	0.35654	0.254000	0.18369	TGG		PASS	0.403	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		27	93	27	93	---	---	---	---
PRX	57716	broad.mit.edu	37	19	40901692	40901692	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:40901692G>A	ENST00000324001.7	-	7	2837	c.2567C>T	c.(2566-2568)tCa>tTa	p.S856L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	856					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S856L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TAGCTCCACTGAAGGCAGAGT	0.632																																						uc002onr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2566-2568)TCA>TTA		periaxin isoform 2							64.0	67.0	66.0					19																	40901692		2203	4300	6503	SO:0001583	missense	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901692G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2567C>T	19.37:g.40901692G>A	ENSP00000326018:p.Ser856Leu					PRX_uc002onq.2_Missense_Mutation_p.S717L|PRX_uc002ons.2_3'UTR	p.S856L	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2836	-			856					Q9BXL9|Q9HCF2	Missense_Mutation	SNP	ENST00000324001.7	37	c.2567C>T	CCDS33028.1	.	.	.	.	.	.	.	.	.	.	G	11.48	1.651304	0.29336	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.01505	4.82	4.91	2.62	0.31277	.	0.000000	0.39274	N	0.001409	T	0.04137	0.0115	L	0.29908	0.895	0.09310	N	0.999998	D	0.67145	0.996	D	0.77557	0.99	T	0.28004	-1.0057	10	0.72032	D	0.01	-7.1355	7.4313	0.27128	0.0937:0.1685:0.7378:0.0	.	856	Q9BXM0	PRAX_HUMAN	L	856	ENSP00000326018:S856L	ENSP00000326018:S856L	S	-	2	0	PRX	45593532	0.000000	0.05858	0.468000	0.27192	0.166000	0.22503	0.583000	0.23849	1.067000	0.40740	0.655000	0.94253	TCA		PASS	0.632	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1	NM_020956		15	57	15	57	---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41594427	41594427	+	Silent	SNP	G	G	A	rs71579360		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:41594427G>A	ENST00000330436.3	+	1	51	c.51G>A	c.(49-51)gtG>gtA	p.V17V		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	17					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.V17V(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	GCCTGACTGTGATGGTCTTGA	0.577																																						uc002opt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(49-51)GTG>GTA		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						77.0	65.0	69.0					19																	41594427		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41594427G>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.51G>A	19.37:g.41594427G>A							p.V17V	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			1	60	+			17					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.51G>A	CCDS12571.1																																																																																				PASS	0.577	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766		18	41	18	41	---	---	---	---
ATP1A3	478	broad.mit.edu	37	19	42482868	42482868	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:42482868C>G	ENST00000302102.5	-	12	1670	c.1520G>C	c.(1519-1521)cGc>cCc	p.R507P	ATP1A3_ENST00000545399.1_Missense_Mutation_p.R520P|ATP1A3_ENST00000543770.1_Missense_Mutation_p.R518P|ATP1A3_ENST00000602133.1_Missense_Mutation_p.R477P	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	507					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R507P(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGTGGAGCAGCGGTCCAGGAT	0.622																																						uc002osg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1519-1521)CGC>CCC		Na+/K+ -ATPase alpha 3 subunit							105.0	94.0	98.0					19																	42482868		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42482868C>G		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.1520G>C	19.37:g.42482868C>G	ENSP00000302397:p.Arg507Pro					ATP1A3_uc010xwf.1_Missense_Mutation_p.R518P|ATP1A3_uc010xwg.1_Missense_Mutation_p.R477P|ATP1A3_uc010xwh.1_Missense_Mutation_p.R520P|ATP1A3_uc002osh.2_Missense_Mutation_p.R507P	p.R507P	NM_152296	NP_689509	P13637	AT1A3_HUMAN			12	1674	-			507			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.1520G>C	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947531	0.73787	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	4.02	4.02	0.46733	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.91178	0.7221	H	0.95539	3.685	0.54753	D	0.999982	D;P;D;P	0.71674	0.98;0.812;0.998;0.844	D;P;D;D	0.72982	0.957;0.867;0.979;0.918	D	0.92098	0.5686	10	0.72032	D	0.01	.	9.3098	0.37898	0.2142:0.7858:0.0:0.0	.	520;518;507;507	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	P	507;507;520;477;251;518	ENSP00000302397:R507P;ENSP00000411503:R507P;ENSP00000444688:R520P;ENSP00000437577:R518P	ENSP00000302397:R507P	R	-	2	0	ATP1A3	47174708	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.681000	0.68175	2.258000	0.74832	0.561000	0.74099	CGC		PASS	0.622	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296		24	102	24	102	---	---	---	---
PSG3	5671	broad.mit.edu	37	19	43233400	43233400	+	Missense_Mutation	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:43233400T>A	ENST00000327495.5	-	5	1302	c.1118A>T	c.(1117-1119)cAg>cTg	p.Q373L	PSG3_ENST00000595140.1_Missense_Mutation_p.Q373L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	373	Ig-like C2-type 3.			Missing (in Ref. 9). {ECO:0000305}.	defense response (GO:0006952)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.Q373L(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCCTGATAGCTGAAACTTCCC	0.458																																						uc002oue.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1117-1119)CAG>CTG		pregnancy specific beta-1-glycoprotein 3							181.0	191.0	188.0					19																	43233400		2203	4300	6503	SO:0001583	missense	5671				defense response|female pregnancy	extracellular region		g.chr19:43233400T>A		CCDS12611.1	19q13.2	2013-01-29			ENSG00000221826	ENSG00000221826		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9520	protein-coding gene	gene with protein product		176392				2341148	Standard	NM_021016		Approved		uc002oue.3	Q16557	OTTHUMG00000151120	ENST00000327495.5:c.1118A>T	19.37:g.43233400T>A	ENSP00000332215:p.Gln373Leu					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.Q373L|PSG3_uc010eil.2_Missense_Mutation_p.Q395L	p.Q373L	NM_021016	NP_066296	Q16557	PSG3_HUMAN			5	1250	-		Prostate(69;0.00682)	373	Missing (in Ref. 9).		Ig-like C2-type 3.		Q08265|Q9BRW2|Q9UPL4|Q9UQ77	Missense_Mutation	SNP	ENST00000327495.5	37	c.1118A>T	CCDS12611.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.641158	0.00799	.	.	ENSG00000221826	ENST00000327495	T	0.07567	3.18	1.33	-2.65	0.06095	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.01940	0.0061	N	0.01618	-0.8	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.17722	0.018;0.019	T	0.29366	-1.0014	9	0.02654	T	1	.	2.8033	0.05420	0.2772:0.0:0.1871:0.5357	.	373;373	P11464-2;Q16557	.;PSG3_HUMAN	L	373	ENSP00000332215:Q373L	ENSP00000332215:Q373L	Q	-	2	0	PSG3	47925240	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.577000	0.00061	-2.517000	0.00500	-1.788000	0.00630	CAG		PASS	0.458	PSG3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321423.2	NM_021016		72	262	72	262	---	---	---	---
ZNF229	7772	broad.mit.edu	37	19	44934665	44934665	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:44934665G>C	ENST00000588931.1	-	6	724	c.291C>G	c.(289-291)ttC>ttG	p.F97L	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000291187.4_Missense_Mutation_p.F91L|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	97	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F97L(1)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGTGAAAAGAACCTTAATT	0.408																																						uc002oze.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)|pancreas(1)	4						c.(289-291)TTC>TTG		zinc finger protein 229							55.0	53.0	54.0					19																	44934665		1838	4091	5929	SO:0001583	missense	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44934665G>C	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.291C>G	19.37:g.44934665G>C	ENSP00000466519:p.Phe97Leu					ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Missense_Mutation_p.F91L	p.F97L	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN			6	725	-		Prostate(69;0.0352)	97			KRAB.		B2RWN3|Q59FV2|Q86WL9	Missense_Mutation	SNP	ENST00000588931.1	37	c.291C>G	CCDS42574.1	.	.	.	.	.	.	.	.	.	.	G	1.832	-0.469700	0.04445	.	.	ENSG00000167383	ENST00000291187	.	.	.	2.85	-0.502	0.12004	Krueppel-associated box (1);	.	.	.	.	T	0.22282	0.0537	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29518	-1.0009	8	0.10902	T	0.67	.	6.0878	0.19976	0.2048:0.0:0.6409:0.1543	.	97	Q9UJW7	ZN229_HUMAN	L	97	.	ENSP00000291187:F97L	F	-	3	2	ZNF229	49626505	0.003000	0.15002	0.000000	0.03702	0.047000	0.14425	0.056000	0.14256	-0.292000	0.08999	-2.366000	0.00237	TTC		PASS	0.408	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		15	67	15	67	---	---	---	---
SYMPK	8189	broad.mit.edu	37	19	46351134	46351134	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:46351134G>C	ENST00000245934.7	-	7	796	c.552C>G	c.(550-552)atC>atG	p.I184M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	184					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.I184M(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCACAAACTTGATGGCGTGGG	0.597																																						uc002pdn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(550-552)ATC>ATG		symplekin							113.0	92.0	99.0					19																	46351134		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46351134G>C	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.552C>G	19.37:g.46351134G>C	ENSP00000245934:p.Ile184Met					SYMPK_uc002pdo.1_Missense_Mutation_p.I184M|SYMPK_uc002pdp.1_Missense_Mutation_p.I184M|SYMPK_uc002pdq.1_Missense_Mutation_p.I184M	p.I184M	NM_004819	NP_004810	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	7	797	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	184					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.552C>G	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987906	0.53934	.	.	ENSG00000125755	ENST00000245934	T	0.34859	1.34	5.5	2.21	0.28008	Armadillo-like helical (1);Armadillo-type fold (1);	0.050797	0.85682	D	0.000000	T	0.45856	0.1363	L	0.54323	1.7	0.48087	D	0.999588	D;P	0.63880	0.993;0.771	D;P	0.65773	0.938;0.535	T	0.38693	-0.9649	10	0.87932	D	0	.	4.3678	0.11233	0.2476:0.0:0.5956:0.1567	.	199;184	Q4LE61;Q92797	.;SYMPK_HUMAN	M	184	ENSP00000245934:I184M	ENSP00000245934:I184M	I	-	3	3	SYMPK	51042974	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.141000	0.58038	0.423000	0.26033	0.655000	0.94253	ATC		PASS	0.597	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		12	37	12	37	---	---	---	---
VRK3	51231	broad.mit.edu	37	19	50482395	50482395	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:50482395G>A	ENST00000599538.1	-	14	2045	c.1381C>T	c.(1381-1383)Cgt>Tgt	p.R461C	VRK3_ENST00000594948.1_Missense_Mutation_p.R461C|VRK3_ENST00000443401.2_Missense_Mutation_p.R230C|VRK3_ENST00000316763.3_Missense_Mutation_p.R461C|VRK3_ENST00000601341.1_Missense_Mutation_p.R411C|VRK3_ENST00000377011.2_Missense_Mutation_p.R411C			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	461					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.R461C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		GGAGACACACGCAGATCCTGC	0.572																																					Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	uc002prg.2																			1	Substitution - Missense(1)		lung(1)	stomach(1)|skin(1)	2						c.(1381-1383)CGT>TGT		vaccinia related kinase 3 isoform 1							168.0	133.0	145.0					19																	50482395		2203	4300	6503	SO:0001583	missense	51231					nucleus	ATP binding|protein kinase activity	g.chr19:50482395G>A	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.1381C>T	19.37:g.50482395G>A	ENSP00000469880:p.Arg461Cys					VRK3_uc002prh.1_Missense_Mutation_p.R461C|VRK3_uc002pri.1_Missense_Mutation_p.R411C|VRK3_uc010ens.2_Missense_Mutation_p.R461C|VRK3_uc010ybl.1_Missense_Mutation_p.R411C|VRK3_uc010ybm.1_Missense_Mutation_p.R230C	p.R461C	NM_016440	NP_057524	Q8IV63	VRK3_HUMAN		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)	14	1479	-		all_neural(266;0.0459)|Ovarian(192;0.0481)	461					A6NEG5|A8KA53|Q502Y2|Q9P2V8	Missense_Mutation	SNP	ENST00000599538.1	37	c.1381C>T	CCDS12791.1	.	.	.	.	.	.	.	.	.	.	G	7.986	0.752231	0.15778	.	.	ENSG00000105053	ENST00000316763;ENST00000377011;ENST00000443401	T;T;T	0.20332	2.08;2.08;2.08	4.82	-0.387	0.12463	Protein kinase-like domain (1);	0.305466	0.31233	N	0.008010	T	0.15349	0.0370	M	0.64997	1.995	0.09310	N	1	B;B;B	0.23058	0.079;0.021;0.021	B;B;B	0.12156	0.007;0.004;0.004	T	0.19745	-1.0296	10	0.56958	D	0.05	-2.9237	0.9437	0.01361	0.2239:0.1785:0.4147:0.1828	.	230;411;461	B4DGW1;A6NEG5;Q8IV63	.;.;VRK3_HUMAN	C	461;411;230	ENSP00000324636:R461C;ENSP00000366210:R411C;ENSP00000414907:R230C	ENSP00000324636:R461C	R	-	1	0	VRK3	55174207	0.001000	0.12720	0.171000	0.22900	0.153000	0.21895	0.248000	0.18198	0.138000	0.18790	0.561000	0.74099	CGT		PASS	0.572	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440		15	63	15	63	---	---	---	---
SYT3	84258	broad.mit.edu	37	19	51132551	51132551	+	Splice_Site	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:51132551C>T	ENST00000338916.4	-	4	1914	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	SYT3_ENST00000600079.1_Splice_Site_p.S427S|SYT3_ENST00000544769.1_Splice_Site_p.S427S|SYT3_ENST00000593901.1_Splice_Site_p.S427S	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	427					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.S427S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GGCCACTGACCGAGCCGCCCT	0.672																																						uc002pst.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(1279-1281)TCG>TCA		synaptotagmin III							13.0	15.0	14.0					19																	51132551		2202	4293	6495	SO:0001630	splice_region_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51132551C>T	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1281+1G>A	19.37:g.51132551C>T						SYT3_uc002psv.2_Silent_p.S427S|SYT3_uc010ycd.1_Silent_p.S427S	p.S427S	NM_032298	NP_115674	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	4	1915	-		all_neural(266;0.131)	427			Cytoplasmic (Potential).		Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.1281G>A	CCDS12798.1																																																																																				PASS	0.672	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298	Silent	7	14	7	14	---	---	---	---
PPP2R1A	5518	broad.mit.edu	37	19	52716078	52716078	+	Missense_Mutation	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:52716078G>C	ENST00000322088.6	+	5	701	c.643G>C	c.(643-645)Gac>Cac	p.D215H	PPP2R1A_ENST00000462990.1_Missense_Mutation_p.D36H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.D160H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	215	PP2A subunit B binding.|Polyoma small and medium T antigens Binding.|SV40 small T antigen binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)	p.D215H(1)		NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		CCTGGCCTCTGACGAGCAGGT	0.602			Mis		clear cell ovarian carcinoma																																	uc002pyp.2				Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		1	Substitution - Missense(1)		lung(1)	endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1)	66						c.(643-645)GAC>CAC		alpha isoform of regulatory subunit A, protein							160.0	127.0	138.0					19																	52716078		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52716078G>C		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.643G>C	19.37:g.52716078G>C	ENSP00000324804:p.Asp215His					PPP2R1A_uc010ydk.1_Missense_Mutation_p.D160H|PPP2R1A_uc010epm.1_Missense_Mutation_p.D255H|PPP2R1A_uc002pyq.2_Missense_Mutation_p.D36H	p.D215H	NM_014225	NP_055040	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	5	802	+			215			PP2A subunit B binding.|SV40 small T antigen binding.|HEAT 6.|Polyoma small and medium T antigens Binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.643G>C	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247963	0.80024	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000444322	T;T	0.28666	1.6;1.6	4.5	4.5	0.54988	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000007	T	0.65270	0.2675	M	0.93939	3.475	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	0.75569	-0.3272	10	0.87932	D	0	-32.9748	15.1188	0.72426	0.0:0.0:1.0:0.0	.	160;215;215	F5H3X9;A8K7B7;P30153	.;.;2AAA_HUMAN	H	205;135;215;160	ENSP00000324804:D215H;ENSP00000415067:D160H	ENSP00000324804:D215H	D	+	1	0	PPP2R1A	57407890	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.489000	0.90461	2.503000	0.84419	0.655000	0.94253	GAC		PASS	0.602	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	NM_014225		62	171	62	171	---	---	---	---
NLRP13	126204	broad.mit.edu	37	19	56436388	56436388	+	Silent	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr19:56436388G>C	ENST00000342929.3	-	2	332	c.333C>G	c.(331-333)acC>acG	p.T111T	NLRP13_ENST00000588751.1_Silent_p.T111T	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	111							ATP binding (GO:0005524)	p.T111T(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCAGCTCTTGGGTCTGCACAT	0.443																																						uc010ygg.1																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(3)|pancreas(1)|lung(1)	9						c.(331-333)ACC>ACG		NACHT, leucine rich repeat and PYD containing							161.0	122.0	135.0					19																	56436388		2203	4300	6503	SO:0001819	synonymous_variant	126204						ATP binding	g.chr19:56436388G>C	AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.333C>G	19.37:g.56436388G>C							p.T111T	NM_176810	NP_789780	Q86W25	NAL13_HUMAN		GBM - Glioblastoma multiforme(193;0.0642)	2	358	-		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)	111					Q7RTR5	Silent	SNP	ENST00000342929.3	37	c.333C>G	CCDS33119.1																																																																																				PASS	0.443	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396560.1	NM_176810		13	70	13	70	---	---	---	---
TMEM74B	55321	broad.mit.edu	37	20	1161765	1161765	+	Nonsense_Mutation	SNP	G	G	T	rs199874198	byFrequency	TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr20:1161765G>T	ENST00000381894.3	-	2	1169	c.498C>A	c.(496-498)taC>taA	p.Y166*	TMEM74B_ENST00000481747.1_5'Flank	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	166						integral component of membrane (GO:0016021)		p.Y166*(1)									CTAGGCGGGCGTAGTACATCT	0.622																																						uc010gaa.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(496-498)TAC>TAA		hypothetical protein LOC55321							67.0	43.0	51.0					20																	1161765		2203	4300	6503	SO:0001587	stop_gained	55321					integral to membrane	protein binding	g.chr20:1161765G>T	AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.498C>A	20.37:g.1161765G>T	ENSP00000371318:p.Tyr166*					C20orf46_uc002weq.1_Nonsense_Mutation_p.Y166*	p.Y166*	NM_018354	NP_060824	Q9NUR3	CT046_HUMAN			3	717	-			166					D3DVW5	Nonsense_Mutation	SNP	ENST00000381894.3	37	c.498C>A	CCDS13011.1	.	.	.	.	.	.	.	.	.	.	G	39	7.518282	0.98332	.	.	ENSG00000125895	ENST00000381894	.	.	.	4.36	-8.57	0.00900	.	0.100829	0.41001	D	0.000965	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-12.9742	15.4778	0.75497	0.7658:0.0:0.2342:0.0	.	.	.	.	X	166	.	ENSP00000371318:Y166X	Y	-	3	2	C20orf46	1109765	0.448000	0.25681	0.796000	0.32109	0.978000	0.69477	-0.261000	0.08694	-1.954000	0.01025	-0.150000	0.13652	TAC		PASS	0.622	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2	NM_018354		9	28	9	28	---	---	---	---
TGM3	7053	broad.mit.edu	37	20	2308908	2308908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr20:2308908G>A	ENST00000381458.5	+	9	1293	c.1230G>A	c.(1228-1230)tgG>tgA	p.W410*		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	410					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)	p.W410*(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCAAACAGTGGAAGAATTCCG	0.542																																						uc002wfx.3																			1	Substitution - Nonsense(1)		lung(1)	large_intestine(4)|ovary(3)|breast(1)|skin(1)	9						c.(1228-1230)TGG>TGA		transglutaminase 3 precursor	L-Glutamine(DB00130)						143.0	107.0	119.0					20																	2308908		2203	4300	6503	SO:0001587	stop_gained	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2308908G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1230G>A	20.37:g.2308908G>A	ENSP00000370867:p.Trp410*						p.W410*	NM_003245	NP_003236	Q08188	TGM3_HUMAN			9	1327	+			410					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Nonsense_Mutation	SNP	ENST00000381458.5	37	c.1230G>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.471131	0.84533	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	.	.	.	5.24	2.28	0.28536	.	1.488930	0.03606	N	0.234170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.582	0.33634	0.2507:0.0:0.7493:0.0	.	.	.	.	X	410	.	ENSP00000370867:W410X	W	+	3	0	TGM3	2256908	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.884000	0.28214	0.382000	0.24878	-0.140000	0.14226	TGG		PASS	0.542	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245		24	50	24	50	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3677795	3677795	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr20:3677795C>T	ENST00000344754.4	-	9	2316	c.2317G>A	c.(2317-2319)Gcc>Acc	p.A773T	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A773T	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	773	Ig-like C2-type 7.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.A773T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ATGCGGCAGGCGTAAAGGGCA	0.632																																						uc002wja.2																			1	Substitution - Missense(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(2317-2319)GCC>ACC		sialoadhesin precursor							66.0	65.0	65.0					20																	3677795		2203	4300	6503	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3677795C>T	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.2317G>A	20.37:g.3677795C>T	ENSP00000341141:p.Ala773Thr					SIGLEC1_uc002wiz.3_Missense_Mutation_p.A773T	p.A773T	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			9	2317	-			773			Ig-like C2-type 7.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.2317G>A	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	C	5.701	0.313916	0.10789	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.09350	2.99;2.99	5.31	0.984	0.19773	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.174906	0.27782	N	0.017864	T	0.05502	0.0145	L	0.37897	1.145	0.26301	N	0.97798	B;B	0.17667	0.023;0.007	B;B	0.16289	0.015;0.004	T	0.42189	-0.9466	10	0.02654	T	1	.	3.56	0.07878	0.1861:0.5329:0.0:0.281	.	773;773	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	T	773	ENSP00000341141:A773T;ENSP00000202578:A773T	ENSP00000202578:A773T	A	-	1	0	SIGLEC1	3625795	0.267000	0.24122	0.603000	0.28903	0.192000	0.23643	0.199000	0.17237	0.396000	0.25283	-0.254000	0.11334	GCC		PASS	0.632	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		25	41	25	41	---	---	---	---
ZNF133	7692	broad.mit.edu	37	20	18296277	18296277	+	Missense_Mutation	SNP	A	A	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr20:18296277A>G	ENST00000316358.4	+	4	879	c.782A>G	c.(781-783)cAg>cGg	p.Q261R	ZNF133_ENST00000401790.1_Missense_Mutation_p.Q261R|RP4-568F9.3_ENST00000436848.1_RNA|ZNF133_ENST00000396026.3_Missense_Mutation_p.Q264R|ZNF133_ENST00000462170.1_3'UTR|ZNF133_ENST00000402618.2_Missense_Mutation_p.Q198R|ZNF133_ENST00000538547.1_Missense_Mutation_p.Q166R|ZNF133_ENST00000535822.1_Missense_Mutation_p.Q166R|ZNF133_ENST00000377671.3_Missense_Mutation_p.Q260R	NM_001282998.1|NM_001282999.1|NM_001283000.1|NM_001283001.1|NM_001283008.1	NP_001269927.1|NP_001269928.1|NP_001269929.1|NP_001269930.1|NP_001269937.1	P52736	ZN133_HUMAN	zinc finger protein 133	261					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.Q260R(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						GCCAGACACCAGAAGGCACAC	0.557																																						uc010gcq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(781-783)CAG>CGG		zinc finger protein 133							58.0	54.0	55.0					20																	18296277		2203	4300	6503	SO:0001583	missense	7692					nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:18296277A>G	AK123005	CCDS13134.1, CCDS63234.1, CCDS63235.1, CCDS74703.1, CCDS74704.1	20p11.23	2013-01-08	2006-06-13		ENSG00000125846	ENSG00000125846		"""Zinc fingers, C2H2-type"", ""-"""	12917	protein-coding gene	gene with protein product		604075	"""zinc finger protein 150 (pHZ-66)"", ""zinc finger protein 133 (clone pHZ-13)"""	ZNF150		7557990, 7649249	Standard	XM_005260819		Approved	pHZ-13, pHZ-66	uc010gcs.3	P52736	OTTHUMG00000031965	ENST00000316358.4:c.782A>G	20.37:g.18296277A>G	ENSP00000346090:p.Gln261Arg					ZNF133_uc010zrv.1_Missense_Mutation_p.Q264R|ZNF133_uc010zrw.1_Missense_Mutation_p.Q198R|ZNF133_uc010gcr.2_Missense_Mutation_p.Q261R|ZNF133_uc010zrx.1_Missense_Mutation_p.Q166R|ZNF133_uc002wql.3_Missense_Mutation_p.Q260R|ZNF133_uc010gcs.2_Missense_Mutation_p.Q260R|ZNF133_uc010zry.1_Missense_Mutation_p.Q166R|ZNF133_uc002wqm.2_Missense_Mutation_p.Q261R	p.Q261R	NM_003434	NP_003425	P52736	ZN133_HUMAN			5	1087	+			261			C2H2-type 2.		A8K5S4|B4DHU7|B4DIB8|B7ZAS1|F5H289|J3KQ11|J3KQJ0|Q53XU1|Q5JXV8|Q9BUV2|Q9H443	Missense_Mutation	SNP	ENST00000316358.4	37	c.782A>G		.	.	.	.	.	.	.	.	.	.	A	12.28	1.891041	0.33348	.	.	ENSG00000125846	ENST00000377671;ENST00000396026;ENST00000402618;ENST00000401790;ENST00000538547;ENST00000535822;ENST00000316358	T;T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26;2.26	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43579	D	0.000541	T	0.07638	0.0192	N	0.03029	-0.43	0.23016	N	0.998421	B;P;B;P	0.39940	0.363;0.696;0.211;0.646	B;B;B;B	0.42282	0.202;0.382;0.119;0.264	T	0.13045	-1.0524	10	0.39692	T	0.17	-26.1301	6.3961	0.21613	0.8927:0.0:0.1073:0.0	.	198;264;261;260	B4DIB8;B4DHU7;P52736;P52736-2	.;.;ZN133_HUMAN;.	R	260;264;198;261;166;166;261	ENSP00000366899:Q260R;ENSP00000400897:Q264R;ENSP00000385279:Q198R;ENSP00000383945:Q261R;ENSP00000442978:Q166R;ENSP00000439427:Q166R;ENSP00000346090:Q261R	ENSP00000346090:Q261R	Q	+	2	0	ZNF133	18244277	0.859000	0.29813	1.000000	0.80357	0.992000	0.81027	2.144000	0.42197	2.100000	0.63781	0.379000	0.24179	CAG		PASS	0.557	ZNF133-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000127616.1	NM_003434		21	52	21	52	---	---	---	---
TGIF2	60436	broad.mit.edu	37	20	35219627	35219627	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr20:35219627G>A	ENST00000373874.2	+	3	706	c.507G>A	c.(505-507)agG>agA	p.R169R	RP5-977B1.11_ENST00000561134.1_RNA|TGIF2-C20orf24_ENST00000558530.1_Intron|TGIF2_ENST00000373872.4_Silent_p.R169R	NM_001199514.1|NM_001199515.1	NP_001186443.1|NP_001186444.1	Q9GZN2	TGIF2_HUMAN	TGFB-induced factor homeobox 2	169	Repressive function.				gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nodal signaling pathway (GO:0038092)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|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)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R169R(1)		cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGCTGACCAGGGCTGAGGCTG	0.632																																						uc002xfn.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(505-507)AGG>AGA		TGFB-induced factor homeobox 2							43.0	49.0	47.0					20																	35219627		2203	4300	6503	SO:0001819	synonymous_variant	60436					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:35219627G>A	AB042646	CCDS13278.1	20q11.23	2012-12-12	2007-02-07		ENSG00000118707	ENSG00000118707		"""Homeoboxes / TALE class"""	15764	protein-coding gene	gene with protein product		607294	"""TGFB-induced factor 2 (TALE family homeobox)"""			11006116	Standard	NM_021809		Approved		uc021wcv.1	Q9GZN2	OTTHUMG00000172332	ENST00000373874.2:c.507G>A	20.37:g.35219627G>A						C20orf24_uc002xfo.2_Intron	p.R169R	NM_021809	NP_068581	Q9GZN2	TGIF2_HUMAN			3	680	+	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)	169			Repressive function.		B2R9U3|E1P5T9|H0YNI0	Silent	SNP	ENST00000373874.2	37	c.507G>A	CCDS13278.1																																																																																				PASS	0.632	TGIF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079004.2	NM_021809		35	48	35	48	---	---	---	---
TLDC2	140711	broad.mit.edu	37	20	35509121	35509121	+	Missense_Mutation	SNP	A	A	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr20:35509121A>T	ENST00000217320.3	+	4	450	c.406A>T	c.(406-408)Aca>Tca	p.T136S	TLDC2_ENST00000602922.1_Missense_Mutation_p.T136S	NM_080628.1	NP_542195.1	A0PJX2	TLDC2_HUMAN	TBC/LysM-associated domain containing 2	136	TLD.							p.T136S(1)									TACTGGCGAGACATTCCTCTT	0.562																																						uc002xgg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(406-408)ACA>TCA		hypothetical protein LOC140711							174.0	148.0	157.0					20																	35509121		2203	4300	6503	SO:0001583	missense	140711							g.chr20:35509121A>T	AL079335	CCDS33465.1	20q11.23	2013-03-14	2013-03-14	2013-03-14	ENSG00000101342	ENSG00000101342			16112	protein-coding gene	gene with protein product	"""hypothetical protein LOC140711"", ""TLD domain containing 2"""		"""chromosome 20 open reading frame 118"""	C20orf118			Standard	NM_080628		Approved	dJ132F21.2	uc002xgg.1	A0PJX2	OTTHUMG00000032400	ENST00000217320.3:c.406A>T	20.37:g.35509121A>T	ENSP00000217320:p.Thr136Ser						p.T136S	NM_080628	NP_542195	A0PJX2	CT118_HUMAN			4	414	+		Myeloproliferative disorder(115;0.00874)	136			TLD.		B3KVU8	Missense_Mutation	SNP	ENST00000217320.3	37	c.406A>T	CCDS33465.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348512	0.61183	.	.	ENSG00000101342	ENST00000217320	T	0.39787	1.06	4.9	4.9	0.64082	TLDc (2);	0.051738	0.85682	D	0.000000	T	0.39462	0.1079	L	0.35414	1.06	0.40221	D	0.977739	P	0.36616	0.561	P	0.46917	0.531	T	0.17077	-1.0381	10	0.13108	T	0.6	-3.2692	12.0449	0.53475	1.0:0.0:0.0:0.0	.	136	A0PJX2	CT118_HUMAN	S	136	ENSP00000217320:T136S	ENSP00000217320:T136S	T	+	1	0	C20orf118	34942535	1.000000	0.71417	0.949000	0.38748	0.819000	0.46315	7.409000	0.80053	1.839000	0.53478	0.379000	0.24179	ACA		PASS	0.562	TLDC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079060.2	NM_080628		14	151	14	151	---	---	---	---
NCOA3	8202	broad.mit.edu	37	20	46281693	46281693	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr20:46281693G>T	ENST00000371998.3	+	22	4331	c.4140G>T	c.(4138-4140)caG>caT	p.Q1380H	NCOA3_ENST00000341724.6_Missense_Mutation_p.Q1306H|NCOA3_ENST00000371997.3_Missense_Mutation_p.Q1371H|NCOA3_ENST00000372004.3_Missense_Mutation_p.Q1376H			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1380					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1380H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CCCAGCAGCAGTTTGCCCACC	0.468																																						uc002xtk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(4138-4140)CAG>CAT		nuclear receptor coactivator 3 isoform a							138.0	131.0	134.0					20																	46281693		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46281693G>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.4140G>T	20.37:g.46281693G>T	ENSP00000361066:p.Gln1380His					NCOA3_uc002xtl.2_Missense_Mutation_p.Q1376H|NCOA3_uc002xtm.2_Missense_Mutation_p.Q1375H|NCOA3_uc002xtn.2_Missense_Mutation_p.Q1379H|NCOA3_uc010zyc.1_Missense_Mutation_p.Q1175H	p.Q1380H	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			22	4345	+			1380					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.4140G>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	10.71	1.426719	0.25726	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.03004	4.14;4.3;4.33;4.08	5.87	5.87	0.94306	.	0.076387	0.56097	D	0.000032	T	0.12987	0.0315	L	0.45352	1.415	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.984;0.998;0.998;0.999;0.984	T	0.30966	-0.9960	10	0.15066	T	0.55	-4.8004	20.206	0.98277	0.0:0.0:1.0:0.0	.	1380;1383;1375;1376;1380	A8K0W8;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;NCOA3_HUMAN	H	1376;1306;1376;1380;1371	ENSP00000342123:Q1306H;ENSP00000361073:Q1376H;ENSP00000361066:Q1380H;ENSP00000361065:Q1371H	ENSP00000345671:Q1376H	Q	+	3	2	NCOA3	45715100	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.716000	0.54904	2.785000	0.95823	0.655000	0.94253	CAG		PASS	0.468	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		15	180	15	180	---	---	---	---
ZGPAT	84619	broad.mit.edu	37	20	62340457	62340457	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr20:62340457G>A	ENST00000328969.5	+	2	652	c.525G>A	c.(523-525)aaG>aaA	p.K175K	ARFRP1_ENST00000324228.2_5'Flank|ARFRP1_ENST00000609142.1_5'Flank|ZGPAT_ENST00000369967.3_Silent_p.K175K|ZGPAT_ENST00000448100.2_Silent_p.K175K|ZGPAT_ENST00000355969.6_Silent_p.K175K|ZGPAT_ENST00000357119.4_Silent_p.K175K|ARFRP1_ENST00000607873.1_5'Flank|ARFRP1_ENST00000440854.1_5'Flank|ARFRP1_ENST00000359715.5_5'Flank|ZGPAT_ENST00000478385.1_3'UTR|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.S81N	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	175					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K175K(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCACTCACAAGTCTCTGAAGC	0.572																																						uc002ygk.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(523-525)AAG>AAA		zinc finger, CCCH-type with G patch domain							102.0	102.0	102.0					20																	62340457		2203	4300	6503	SO:0001819	synonymous_variant	84619				negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62340457G>A	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.525G>A	20.37:g.62340457G>A						ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Silent_p.K175K|ZGPAT_uc002ygj.2_Silent_p.K175K|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.K175K|ZGPAT_uc002ygm.2_Silent_p.K175K|ZGPAT_uc002ygn.3_RNA	p.K175K	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN			2	703	+	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)		175			C3H1-type.		E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Silent	SNP	ENST00000328969.5	37	c.525G>A	CCDS13534.1																																																																																				PASS	0.572	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484		9	157	9	157	---	---	---	---
TPTE	7179	broad.mit.edu	37	21	10944750	10944750	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr21:10944750C>A	ENST00000361285.4	-	11	813	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	TPTE_ENST00000298232.7_Missense_Mutation_p.D144Y|TPTE_ENST00000342420.5_Missense_Mutation_p.D124Y|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	162					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.D162Y(2)|p.D144Y(2)		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)		ATGGCAGTATCTAAAATGTTA	0.308																																						uc002yip.1																			4	Substitution - Missense(4)		lung(4)	ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(484-486)GAT>TAT		transmembrane phosphatase with tensin homology							130.0	140.0	137.0					21																	10944750		2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10944750C>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.484G>T	21.37:g.10944750C>A	ENSP00000355208:p.Asp162Tyr					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.D144Y|TPTE_uc002yir.1_Missense_Mutation_p.D124Y|TPTE_uc010gkv.1_Missense_Mutation_p.D24Y	p.D162Y	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)	11	852	-			162					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.484G>T	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	10.44	1.351745	0.24512	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	D;D;D	0.99399	-5.83;-5.83;-5.83	2.31	1.4	0.22301	Ion transport (1);	0.000000	0.85682	U	0.000000	D	0.99312	0.9759	M	0.86343	2.81	0.51767	D	0.999937	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76575	0.98;0.98;0.988	D	0.99353	1.0915	10	0.87932	D	0	-26.8262	4.9077	0.13806	0.0:0.8169:0.0:0.1831	.	124;144;162	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	Y	144;162;124	ENSP00000298232:D144Y;ENSP00000355208:D162Y;ENSP00000344441:D124Y	ENSP00000298232:D144Y	D	-	1	0	TPTE	9966621	0.997000	0.39634	0.656000	0.29637	0.328000	0.28507	1.411000	0.34702	0.517000	0.28361	0.194000	0.17425	GAT		PASS	0.308	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			29	230	29	230	---	---	---	---
POTED	317754	broad.mit.edu	37	21	14982885	14982885	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr21:14982885C>A	ENST00000299443.5	+	1	388	c.336C>A	c.(334-336)agC>agA	p.S112R		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	112						plasma membrane (GO:0005886)		p.S112R(1)		central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						GCAGGGGGAGCGGCAAGAGCA	0.577																																						uc002yjb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(3)	6						c.(334-336)AGC>AGA		pote protein							24.0	39.0	36.0					21																	14982885		859	3163	4022	SO:0001583	missense	317754					plasma membrane		g.chr21:14982885C>A	AY172978	CCDS13562.1	21q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000166351	ENSG00000166351		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	23822	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 1"""	607549	"""ankyrin repeat domain 21"", ""ANKRD26-like family B, member 3"""	ANKRD21, A26B3		12475935, 15276201, 16364570	Standard	NM_174981		Approved	POTE, POTE-21, POTE21, CT104.1	uc002yjb.1	Q86YR6	OTTHUMG00000074197	ENST00000299443.5:c.336C>A	21.37:g.14982885C>A	ENSP00000299443:p.Ser112Arg						p.S112R	NM_174981	NP_778146	Q86YR6	POTED_HUMAN			1	388	+			112					C9JCF7	Missense_Mutation	SNP	ENST00000299443.5	37	c.336C>A	CCDS13562.1	.	.	.	.	.	.	.	.	.	.	C	5.522	0.281284	0.10458	.	.	ENSG00000166351	ENST00000299443	T	0.28255	1.62	0.418	0.418	0.16429	.	.	.	.	.	T	0.23611	0.0571	L	0.50333	1.59	0.09310	N	1	P	0.48350	0.909	B	0.38428	0.273	T	0.16453	-1.0402	8	0.72032	D	0.01	.	.	.	.	.	112	Q86YR6	POTED_HUMAN	R	112	ENSP00000299443:S112R	ENSP00000299443:S112R	S	+	3	2	POTED	13904756	0.000000	0.05858	0.003000	0.11579	0.044000	0.14063	-0.614000	0.05604	0.453000	0.26858	0.184000	0.17185	AGC		PASS	0.577	POTED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157660.1	NM_174981		21	32	21	32	---	---	---	---
TMPRSS15	5651	broad.mit.edu	37	21	19737458	19737458	+	Splice_Site	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr21:19737458G>T	ENST00000284885.3	-	7	805	c.772C>A	c.(772-774)Cgt>Agt	p.R258S		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	258	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.R258S(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGTATTACCGTATGATCCAC	0.343																																						uc002ykw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(772-774)CGT>AGT		enterokinase precursor							133.0	129.0	130.0					21																	19737458		2203	4300	6503	SO:0001630	splice_region_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19737458G>T		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.773+1C>A	21.37:g.19737458G>T							p.R258S	NM_002772	NP_002763	P98073	ENTK_HUMAN			7	803	-			258			Extracellular (Potential).|CUB 1.		Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	c.772C>A	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313376	0.40996	.	.	ENSG00000154646	ENST00000284885	T	0.18174	2.23	5.09	1.06	0.20224	CUB (5);	0.532256	0.19238	N	0.119244	T	0.10809	0.0264	L	0.41573	1.285	0.35502	D	0.799875	B	0.30326	0.276	B	0.30316	0.114	T	0.21895	-1.0232	9	.	.	.	.	3.284	0.06925	0.0849:0.151:0.4524:0.3116	.	258	P98073	ENTK_HUMAN	S	258	ENSP00000284885:R258S	.	R	-	1	0	TMPRSS15	18659329	0.993000	0.37304	0.998000	0.56505	0.807000	0.45602	0.019000	0.13444	0.079000	0.16929	-0.196000	0.12772	CGT		PASS	0.343	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	Missense_Mutation	19	53	19	53	---	---	---	---
KRTAP10-5	386680	broad.mit.edu	37	21	45999820	45999820	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr21:45999820G>A	ENST00000400372.1	-	1	661	c.636C>T	c.(634-636)acC>acT	p.T212T	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	212	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T212T(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						TGCAGCAGGAGGTGGTGCAGC	0.647																																						uc002zfl.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(634-636)ACC>ACT		keratin associated protein 10-5							129.0	134.0	133.0					21																	45999820		2203	4300	6503	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:45999820G>A	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.636C>T	21.37:g.45999820G>A						C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.T212T	NM_198694	NP_941967	P60370	KR105_HUMAN			1	662	-			212			22 X 5 AA repeats of C-C-X(3).|18.		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.636C>T	CCDS42958.1																																																																																				PASS	0.647	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			49	98	49	98	---	---	---	---
HPS4	89781	broad.mit.edu	37	22	26853846	26853846	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr22:26853846G>A	ENST00000398145.2	-	13	2550	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	HPS4_ENST00000398141.1_Missense_Mutation_p.A658V|HPS4_ENST00000493455.2_5'UTR|HPS4_ENST00000402105.3_Missense_Mutation_p.A640V|HPS4_ENST00000336873.5_Missense_Mutation_p.A645V	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	645					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)	p.A658V(1)|p.A645V(1)		breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCATAAAGCGCGGGCAGCTG	0.632									Hermansky-Pudlak syndrome																													uc003acl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(1933-1935)GCG>GTG		light ear protein isoform a							48.0	48.0	48.0					22																	26853846		2203	4300	6503	SO:0001583	missense	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26853846G>A		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.1934C>T	22.37:g.26853846G>A	ENSP00000381213:p.Ala645Val					HPS4_uc003aci.2_Missense_Mutation_p.A640V|HPS4_uc003acj.2_Missense_Mutation_p.A509V|HPS4_uc003ack.2_Missense_Mutation_p.A436V|HPS4_uc003acn.2_Missense_Mutation_p.A491V|HPS4_uc003ach.2_Missense_Mutation_p.A380V	p.A645V	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			13	2593	-			645					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Missense_Mutation	SNP	ENST00000398145.2	37	c.1934C>T	CCDS13835.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615709	0.28801	.	.	ENSG00000100099	ENST00000398145;ENST00000398141;ENST00000402105;ENST00000336873	T;T;T;T	0.22539	1.95;1.95;1.95;1.95	5.13	4.11	0.48088	.	0.324362	0.32015	N	0.006720	T	0.15869	0.0382	L	0.47716	1.5	0.09310	N	1	P;P;P;P;B	0.41673	0.59;0.59;0.59;0.759;0.362	B;B;B;B;B	0.30401	0.084;0.084;0.084;0.115;0.084	T	0.15665	-1.0429	10	0.66056	D	0.02	-1.0289	10.5784	0.45240	0.0963:0.0:0.9037:0.0	.	645;645;645;658;640	Q6P1K3;Q9NQG7;A8K2E6;Q9NQG7-4;Q9NQG7-3	.;HPS4_HUMAN;.;.;.	V	645;658;640;645	ENSP00000381213:A645V;ENSP00000381210:A658V;ENSP00000384185:A640V;ENSP00000338457:A645V	ENSP00000338457:A645V	A	-	2	0	HPS4	25183846	0.206000	0.23470	0.004000	0.12327	0.049000	0.14656	3.480000	0.53172	1.131000	0.42111	0.655000	0.94253	GCG		PASS	0.632	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1	NM_022081		4	54	4	54	---	---	---	---
SEC14L4	284904	broad.mit.edu	37	22	30890178	30890178	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr22:30890178G>T	ENST00000255858.7	-	7	622	c.539C>A	c.(538-540)gCa>gAa	p.A180E	SEC14L4_ENST00000381982.3_Missense_Mutation_p.A180E|RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000540456.1_Missense_Mutation_p.A165E|RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000392772.2_Missense_Mutation_p.A126E	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	180	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)	p.A180E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	AGGATAATTTGCTTCCAGGAT	0.512																																						uc003aid.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(538-540)GCA>GAA		SEC14p-like protein TAP3 isoform a	Vitamin E(DB00163)						113.0	117.0	115.0					22																	30890178		2203	4300	6503	SO:0001583	missense	284904					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30890178G>T	AY158085	CCDS13878.1, CCDS54517.1	22q12.1	2003-03-10			ENSG00000133488	ENSG00000133488			20627	protein-coding gene	gene with protein product		612825					Standard	NM_174977		Approved	TAP3, dJ130H16.5	uc003aid.2	Q9UDX3	OTTHUMG00000151258	ENST00000255858.7:c.539C>A	22.37:g.30890178G>T	ENSP00000255858:p.Ala180Glu					SEC14L4_uc011akz.1_Missense_Mutation_p.A180E|SEC14L4_uc003aie.2_Missense_Mutation_p.A165E|SEC14L4_uc003aif.2_Missense_Mutation_p.A126E	p.A180E	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN			7	639	-			180			CRAL-TRIO.		A5D6W7|A6NCV4	Missense_Mutation	SNP	ENST00000255858.7	37	c.539C>A	CCDS13878.1	.	.	.	.	.	.	.	.	.	.	g	1.264	-0.615049	0.03663	.	.	ENSG00000133488	ENST00000255858;ENST00000540456;ENST00000392772;ENST00000381982	T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9	5.22	1.36	0.22044	Cellular retinaldehyde-binding/triple function, C-terminal (5);	0.300148	0.35555	N	0.003138	T	0.53769	0.1817	N	0.21617	0.685	0.80722	D	1	B;B;B	0.22909	0.007;0.077;0.002	B;B;B	0.24155	0.04;0.051;0.013	T	0.47923	-0.9079	10	0.02654	T	1	-7.5165	11.8466	0.52387	0.0:0.0:0.3652:0.6348	.	126;165;180	B3KSF0;G3V1L4;Q9UDX3	.;.;S14L4_HUMAN	E	180;165;126;180	ENSP00000255858:A180E;ENSP00000440848:A165E;ENSP00000376525:A126E;ENSP00000371412:A180E	ENSP00000255858:A180E	A	-	2	0	SEC14L4	29220178	0.992000	0.36948	1.000000	0.80357	0.670000	0.39368	2.023000	0.41040	0.668000	0.31126	-0.293000	0.09583	GCA		PASS	0.512	SEC14L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321946.1	NM_174977		29	80	29	80	---	---	---	---
EIF3L	51386	broad.mit.edu	37	22	38273833	38273833	+	Missense_Mutation	SNP	A	A	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr22:38273833A>C	ENST00000412331.2	+	11	1812	c.1230A>C	c.(1228-1230)gaA>gaC	p.E410D	EIF3L_ENST00000406934.1_Missense_Mutation_p.E312D|EIF3L_ENST00000381683.6_Missense_Mutation_p.E362D	NM_016091.3	NP_057175.1			eukaryotic translation initiation factor 3, subunit L									p.E410D(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AAGTCTATGAAGAACTTTTCA	0.507																																						uc003auf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1228-1230)GAA>GAC		eukaryotic translation initiation factor 3							91.0	75.0	80.0					22																	38273833		2203	4300	6503	SO:0001583	missense	51386					eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:38273833A>C	AF083243	CCDS13960.1, CCDS56230.1	22q	2012-12-20	2009-01-07	2009-01-07	ENSG00000100129	ENSG00000100129			18138	protein-coding gene	gene with protein product			"""eukaryotic translation initiation factor 3, subunit 6 interacting protein"", ""eukaryotic translation initiation factor 3, subunit E interacting protein"""	EIF3S6IP, EIF3EIP		11042152, 11590142	Standard	NM_016091		Approved	HSPC021, HSPC025, EIF3S11	uc003auf.3	Q9Y262	OTTHUMG00000150671	ENST00000412331.2:c.1230A>C	22.37:g.38273833A>C	ENSP00000416892:p.Glu410Asp					EIF3L_uc003aue.1_Missense_Mutation_p.E410D|EIF3L_uc011ann.1_Missense_Mutation_p.E362D|EIF3L_uc003aug.2_Missense_Mutation_p.E302D|EIF3L_uc003auh.2_Missense_Mutation_p.E143D	p.E410D	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN			11	1317	+			410						Missense_Mutation	SNP	ENST00000412331.2	37	c.1230A>C	CCDS13960.1	.	.	.	.	.	.	.	.	.	.	a	16.73	3.203041	0.58234	.	.	ENSG00000100129	ENST00000412331;ENST00000425539;ENST00000381683;ENST00000262832;ENST00000406934	T;T;T	0.44083	0.93;0.93;0.93	4.97	2.88	0.33553	.	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	L	0.54323	1.7	0.58432	D	0.999999	D;P;D;D	0.67145	0.994;0.931;0.993;0.996	D;P;D;D	0.71656	0.962;0.699;0.953;0.974	T	0.43261	-0.9402	10	0.20519	T	0.43	-34.9741	10.5358	0.45002	0.1602:0.0:0.8398:0.0	.	362;312;410;453	B4DYB2;B0QY90;Q9Y262;B0QY89	.;.;EIF3L_HUMAN;.	D	410;453;362;377;312	ENSP00000416892:E410D;ENSP00000371099:E362D;ENSP00000384634:E312D	ENSP00000262832:E377D	E	+	3	2	EIF3L	36603779	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.839000	0.62810	0.581000	0.29539	-0.497000	0.04613	GAA		PASS	0.507	EIF3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319551.2	NM_016091		25	58	25	58	---	---	---	---
ATF4	468	broad.mit.edu	37	22	39917932	39917932	+	Silent	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr22:39917932C>G	ENST00000337304.2	+	2	1263	c.381C>G	c.(379-381)gtC>gtG	p.V127V	ATF4_ENST00000396680.1_Silent_p.V127V|ATF4_ENST00000404241.2_Silent_p.V127V	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	127					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|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 involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.V127V(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CCCCCCTAGTCCAGGAGACTA	0.522																																						uc003axz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(379-381)GTC>GTG		activating transcription factor 4							177.0	191.0	186.0					22																	39917932		2203	4300	6503	SO:0001819	synonymous_variant	468				cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:39917932C>G	D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.381C>G	22.37:g.39917932C>G						ATF4_uc011aol.1_Silent_p.V39V|ATF4_uc003aya.2_Silent_p.V127V	p.V127V	NM_182810	NP_877962	P18848	ATF4_HUMAN			3	661	+	Melanoma(58;0.04)		127					Q9UH31	Silent	SNP	ENST00000337304.2	37	c.381C>G	CCDS13996.1																																																																																				PASS	0.522	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321305.1	NM_001675		53	201	53	201	---	---	---	---
PLXNB2	23654	broad.mit.edu	37	22	50719566	50719566	+	Nonsense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr22:50719566C>A	ENST00000449103.1	-	23	3855	c.3715G>T	c.(3715-3717)Gag>Tag	p.E1239*	PLXNB2_ENST00000496720.1_5'Flank|PLXNB2_ENST00000359337.4_Nonsense_Mutation_p.E1239*			O15031	PLXB2_HUMAN	plexin B2	1239					brain development (GO:0007420)|neural tube closure (GO:0001843)|neuroblast proliferation (GO:0007405)|positive regulation of axonogenesis (GO:0050772)|regulation of cell shape (GO:0008360)|regulation of neuron migration (GO:2001222)|regulation of protein phosphorylation (GO:0001932)|regulation of Rho GTPase activity (GO:0032319)|semaphorin-plexin signaling pathway (GO:0071526)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)	GTPase activator activity (GO:0005096)|semaphorin receptor activity (GO:0017154)	p.E1282*(1)		breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCAGGCCCTCCAGCTGGGAC	0.662																																						uc003bkv.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(3715-3717)GAG>TAG		plexin B2 precursor							31.0	35.0	34.0					22																	50719566		2170	4279	6449	SO:0001587	stop_gained	23654				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity	g.chr22:50719566C>A		CCDS43035.1	22q13.33	2008-06-12			ENSG00000196576	ENSG00000196576		"""Plexins"""	9104	protein-coding gene	gene with protein product		604293				10520995, 12183458	Standard	NM_012401		Approved	MM1, KIAA0315, PLEXB2	uc003bkv.4	O15031	OTTHUMG00000150219	ENST00000449103.1:c.3715G>T	22.37:g.50719566C>A	ENSP00000409171:p.Glu1239*					PLXNB2_uc003bkt.1_Nonsense_Mutation_p.E31*|PLXNB2_uc003bku.1_Nonsense_Mutation_p.E224*	p.E1239*	NM_012401	NP_036533	O15031	PLXB2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	23	3821	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	1239			Cytoplasmic (Potential).		A6QRH0|Q7KZU3|Q9BSU7	Nonsense_Mutation	SNP	ENST00000449103.1	37	c.3715G>T	CCDS43035.1	.	.	.	.	.	.	.	.	.	.	C	43	9.984096	0.99310	.	.	ENSG00000196576	ENST00000449103;ENST00000359337	.	.	.	4.87	4.87	0.63330	.	0.000000	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	17.9781	0.89132	0.0:1.0:0.0:0.0	.	.	.	.	X	1239	.	ENSP00000352288:E1239X	E	-	1	0	PLXNB2	49061693	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.476000	0.81055	2.254000	0.74563	0.561000	0.74099	GAG		PASS	0.662	PLXNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316874.3	NM_012401		7	17	7	17	---	---	---	---
ODF3B	440836	broad.mit.edu	37	22	50969224	50969224	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr22:50969224G>A	ENST00000428989.2	-	5	597	c.598C>T	c.(598-600)Ccc>Tcc	p.P200S	TYMP_ENST00000395681.1_5'Flank|ODF3B_ENST00000405135.1_Missense_Mutation_p.P215L|TYMP_ENST00000252029.3_5'Flank|TYMP_ENST00000395678.3_5'Flank|ODF3B_ENST00000329363.4_Missense_Mutation_p.P200S|TYMP_ENST00000395680.1_5'Flank|ODF3B_ENST00000401779.1_Missense_Mutation_p.P176L|ODF3B_ENST00000403326.1_Missense_Mutation_p.P132S			A8MYP8	ODF3B_HUMAN	outer dense fiber of sperm tails 3B	200								p.P200S(1)		lung(2)	2						GTGAACTGGGGGGCCCGGGAC	0.692																																						uc003bmh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(598-600)CCC>TCC		outer dense fiber of sperm tails 3B							12.0	15.0	14.0					22																	50969224		1842	4070	5912	SO:0001583	missense	440836							g.chr22:50969224G>A		CCDS43039.1	22q13.33	2008-10-24			ENSG00000177989	ENSG00000177989			34388	protein-coding gene	gene with protein product							Standard	NM_001014440		Approved		uc003bmh.2	A8MYP8	OTTHUMG00000150334	ENST00000428989.2:c.598C>T	22.37:g.50969224G>A	ENSP00000390712:p.Pro200Ser					TYMP_uc003bmb.3_5'Flank|TYMP_uc003bmc.3_5'Flank|TYMP_uc003bmd.3_5'Flank|TYMP_uc010hbd.2_5'Flank|TYMP_uc003bme.3_5'Flank|TYMP_uc003bmf.3_5'Flank|TYMP_uc011arz.1_5'Flank|ODF3B_uc003bmg.2_Missense_Mutation_p.P176L	p.P200S	NM_001014440	NP_001014440	A8MYP8	ODF3B_HUMAN			6	735	-			200			DUF1309.		A0PK18	Missense_Mutation	SNP	ENST00000428989.2	37	c.598C>T	CCDS43039.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.334876|4.334876	0.81801|0.81801	.|.	.|.	ENSG00000177989|ENSG00000177989	ENST00000401779;ENST00000405135|ENST00000329363;ENST00000403326;ENST00000428989	T|T;T;T	0.44881|0.52057	0.91|0.68;0.68;0.68	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	.|.	.|.	.|.	.|.	T|T	0.72366|0.72366	0.3451|0.3451	M|M	0.88241|0.88241	2.94|2.94	0.37237|0.37237	D|D	0.905947|0.905947	P|D	0.44044|0.89917	0.825|1.0	P|D	0.44897|0.72982	0.463|0.979	T|T	0.79918|0.79918	-0.1600|-0.1600	9|9	0.87932|0.66056	D|D	0|0.02	-12.8981|-12.8981	14.3414|14.3414	0.66630|0.66630	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	176|200	B5MD02|A8MYP8	.|ODF3B_HUMAN	L|S	176;215|200;132;200	ENSP00000384012:P215L|ENSP00000382804:P200S;ENSP00000385123:P132S;ENSP00000390712:P200S	ENSP00000384310:P176L|ENSP00000382804:P200S	P|P	-|-	2|1	0|0	ODF3B|ODF3B	49316090|49316090	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.868000|0.868000	0.49771|0.49771	4.951000|4.951000	0.63610|0.63610	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	CCC|CCC		PASS	0.692	ODF3B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317626.2			3	19	3	19	---	---	---	---
ACR	49	broad.mit.edu	37	22	51178279	51178279	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr22:51178279G>A	ENST00000216139.5	+	3	479	c.439G>A	c.(439-441)Gag>Aag	p.E147K	AC000036.4_ENST00000449652.1_RNA|AC002056.5_ENST00000532913.1_RNA|ACR_ENST00000529621.1_Missense_Mutation_p.E147K	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	147	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acrosome matrix dispersal (GO:0002077)|acrosome reaction (GO:0007340)|activation of adenylate cyclase activity (GO:0007190)|binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|response to steroid hormone (GO:0048545)|single fertilization (GO:0007338)	acrosomal matrix (GO:0043159)|extracellular region (GO:0005576)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|protein complex (GO:0043234)	amidase activity (GO:0004040)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|drug binding (GO:0008144)|fucose binding (GO:0042806)|mannose binding (GO:0005537)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)	p.E147K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCCTCGTGGAGATCACCCC	0.547																																						uc003bnh.3																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)GAG>AAG		acrosin precursor							84.0	89.0	88.0					22																	51178279		2203	4300	6503	SO:0001583	missense	49				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding	g.chr22:51178279G>A	CR456366	CCDS14101.1	22q13.33	2012-10-23	2012-10-23		ENSG00000100312	ENSG00000100312	3.4.21.10		126	protein-coding gene	gene with protein product	"""preproacrosin"", ""acrosin light and heavy chain prepropeptide"""	102480				2298447, 12398221	Standard	NM_001097		Approved		uc003bnh.4	P10323	OTTHUMG00000150155	ENST00000216139.5:c.439G>A	22.37:g.51178279G>A	ENSP00000216139:p.Glu147Lys					uc003bng.2_5'Flank|ACR_uc010hbh.1_Missense_Mutation_p.E147K	p.E147K	NM_001097	NP_001088	P10323	ACRO_HUMAN		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)	3	451	+		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	147			Peptidase S1.		Q6ICK2	Missense_Mutation	SNP	ENST00000216139.5	37	c.439G>A	CCDS14101.1	.	.	.	.	.	.	.	.	.	.	A	0.039	-1.291408	0.01375	.	.	ENSG00000100312	ENST00000216139;ENST00000529621	D;D	0.86366	-2.11;-2.11	4.52	3.49	0.39957	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.41194	N	0.000938	T	0.63768	0.2539	N	0.04260	-0.245	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.002	T	0.53697	-0.8402	10	0.02654	T	1	-21.9689	3.689	0.08339	0.6095:0.1925:0.1981:0.0	.	147;147	E9PLV5;P10323	.;ACRO_HUMAN	K	147	ENSP00000216139:E147K;ENSP00000435120:E147K	ENSP00000216139:E147K	E	+	1	0	ACR	49525145	0.738000	0.28186	0.969000	0.41365	0.069000	0.16628	0.569000	0.23638	0.886000	0.36113	-0.556000	0.04195	GAG		PASS	0.547	ACR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000316605.2	NM_001097		44	122	44	122	---	---	---	---
P2RY8	286530	broad.mit.edu	37	X	1585301	1585301	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:1585301G>T	ENST00000381297.4	-	2	361	c.151C>A	c.(151-153)Cgc>Agc	p.R51S	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.R51S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCCCATGCGCCGGCACAGC	0.637			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	uc004cpz.2				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		B-ALL|Downs associated ALL		1	Substitution - Missense(1)		lung(1)	lung(5)	5						c.(151-153)CGC>AGC		G-protein coupled purinergic receptor P2Y8							61.0	60.0	60.0					X																	1585301		2203	4296	6499	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1585301G>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.151C>A	X.37:g.1585301G>T	ENSP00000370697:p.Arg51Ser						p.R51S	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN			2	399	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	51			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000381297.4	37	c.151C>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	10.56	1.384057	0.25031	.	.	ENSG00000182162	ENST00000381297	T	0.70869	-0.52	1.8	1.8	0.24995	GPCR, rhodopsin-like superfamily (1);	0.254634	0.33092	U	0.005282	T	0.64505	0.2604	L	0.51853	1.615	0.09310	N	0.999993	P	0.44946	0.846	B	0.42593	0.392	T	0.59490	-0.7445	10	0.54805	T	0.06	.	11.9302	0.52843	0.0:0.0:1.0:0.0	.	51	Q86VZ1	P2RY8_HUMAN	S	51	ENSP00000370697:R51S	ENSP00000370697:R51S	R	-	1	0	P2RY8	1545301	1.000000	0.71417	0.138000	0.22173	0.015000	0.08874	4.472000	0.60189	0.637000	0.30526	0.279000	0.19357	CGC		PASS	0.637	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		12	48	12	48	---	---	---	---
ASB9	140462	broad.mit.edu	37	X	15287980	15287981	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:15287980_15287981CC>AG	ENST00000380488.4	-	1	289_290	c.16_17GG>CT	c.(16-18)GGg>CTg	p.G6L	ASB9_ENST00000380485.3_Missense_Mutation_p.G6L|ASB9_ENST00000380483.3_Missense_Mutation_p.G6L|ASB9_ENST00000546332.1_Missense_Mutation_p.G6L|ASB9_ENST00000473862.1_5'UTR	NM_001031739.2	NP_001026909.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	6					intracellular signal transduction (GO:0035556)|positive regulation of protein catabolic process (GO:0045732)|protein ubiquitination (GO:0016567)	mitochondrion (GO:0005739)		p.G6V(2)|p.G6L(2)|p.G6R(2)		breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					ATCCATGCCCCCTTGTTTGCCA	0.564																																						uc004cwl.2																			6	Substitution - Missense(6)		lung(6)		0						c.(16-18)GGG>GTG|c.(16-18)GGG>CGG		ankyrin repeat and SOCS box-containing 9 isoform																																				SO:0001583	missense	140462				intracellular signal transduction			g.chrX:15287980C>A|g.chrX:15287981C>G	AK000643	CCDS14163.1, CCDS35208.1, CCDS55372.1	Xp22.2	2013-01-10	2011-01-25		ENSG00000102048	ENSG00000102048		"""Ankyrin repeat domain containing"""	17184	protein-coding gene	gene with protein product		300890	"""ankyrin repeat and SOCS box-containing 9"""			12076535	Standard	NM_001031739		Approved	DKFZP564L0862, MGC4954, FLJ20636	uc004cwl.3	Q96DX5	OTTHUMG00000021172	ENST00000380488.4:c.16_17delinsAG	X.37:g.15287980_15287981delinsAG	ENSP00000369855:p.Gly6Leu					ASB9_uc004cwk.2_Missense_Mutation_p.G6V|ASB9_uc004cwm.2_Missense_Mutation_p.G6V|ASB9_uc010ner.2_Missense_Mutation_p.G6V|ASB9_uc004cwn.2_Missense_Mutation_p.G6V|ASB9_uc004cwk.2_Missense_Mutation_p.G6R|ASB9_uc004cwm.2_Missense_Mutation_p.G6R|ASB9_uc010ner.2_Missense_Mutation_p.G6R|ASB9_uc004cwn.2_Missense_Mutation_p.G6R	p.G6V|p.G6R	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN			1	264|263	-	Hepatocellular(33;0.183)		6					A8K8A5|Q9BVF5|Q9NWS5|Q9Y4T3	Missense_Mutation	SNP	ENST00000380488.4	37	c.17G>T|c.16G>C	CCDS35208.1																																																																																				PASS	0.564	ASB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055844.1			12|11	105|104	11	104	---	---	---	---
MAGEB2	4113	broad.mit.edu	37	X	30237316	30237316	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:30237316C>A	ENST00000378988.4	+	2	720	c.619C>A	c.(619-621)Ctc>Atc	p.L207I		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	207	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L207I(2)|p.L207F(2)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TCTGATGCCTCTCCTGGGTGT	0.493																																						uc004dbz.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(619-621)CTC>ATC		melanoma antigen family B, 2							64.0	51.0	56.0					X																	30237316		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30237316C>A	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.619C>A	X.37:g.30237316C>A	ENSP00000368273:p.Leu207Ile						p.L207I	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	722	+			207			MAGE.		O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.619C>A	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308032	0.60305	.	.	ENSG00000099399	ENST00000378988	T	0.02552	4.25	3.27	1.43	0.22495	.	0.120366	0.51477	D	0.000087	T	0.04497	0.0123	L	0.38649	1.16	0.20307	N	0.999916	D	0.55605	0.972	P	0.55303	0.773	T	0.40887	-0.9539	10	0.15952	T	0.53	.	8.6447	0.33998	0.0:0.5451:0.4549:0.0	.	207	O15479	MAGB2_HUMAN	I	207	ENSP00000368273:L207I	ENSP00000368273:L207I	L	+	1	0	MAGEB2	30147237	0.109000	0.22037	0.546000	0.28166	0.713000	0.41058	0.239000	0.18023	0.257000	0.21650	0.436000	0.28706	CTC		PASS	0.493	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364		11	33	11	33	---	---	---	---
XK	7504	broad.mit.edu	37	X	37553744	37553744	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:37553744C>A	ENST00000378616.3	+	2	654	c.451C>A	c.(451-453)Cag>Aag	p.Q151K	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	151					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.Q151K(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				CTCAGCCCCCCAGCTGACCCT	0.522																																						uc004ddq.2																			1	Substitution - Missense(1)		lung(1)		0	GRCh37	CI004028	XK	I		c.(451-453)CAG>AAG		membrane transport protein XK							78.0	55.0	63.0					X																	37553744		2200	4298	6498	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37553744C>A	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.451C>A	X.37:g.37553744C>A	ENSP00000367879:p.Gln151Lys						p.Q151K	NM_021083	NP_066569	P51811	XK_HUMAN			2	533	+		all_lung(315;0.175)	151			Helical; (Potential).		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.451C>A	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861611	0.91433	.	.	ENSG00000047597	ENST00000378616	T	0.73152	-0.72	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.87168	0.6110	M	0.86420	2.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88609	0.3155	10	0.87932	D	0	-13.1781	19.4804	0.95007	0.0:1.0:0.0:0.0	.	151	P51811	XK_HUMAN	K	151	ENSP00000367879:Q151K	ENSP00000367879:Q151K	Q	+	1	0	XK	37438683	1.000000	0.71417	0.952000	0.39060	0.779000	0.44077	7.487000	0.81328	2.555000	0.86185	0.513000	0.50165	CAG		PASS	0.522	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		2	5	2	5	---	---	---	---
CACNA1F	778	broad.mit.edu	37	X	49068374	49068374	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:49068374C>A	ENST00000376265.2	-	35	4178	c.4117G>T	c.(4117-4119)Gtg>Ttg	p.V1373L	CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1362L|CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1308L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1373					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.V1373L(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AGAAGCAGCACAGCCTGTGGA	0.552																																						uc004dnb.2																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|kidney(1)|skin(1)	6						c.(4117-4119)GTG>TTG		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						253.0	146.0	182.0					X																	49068374		2203	4300	6503	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49068374C>A	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.4117G>T	X.37:g.49068374C>A	ENSP00000365441:p.Val1373Leu					CACNA1F_uc010nip.2_Missense_Mutation_p.V1362L	p.V1373L	NM_005183	NP_005174	O60840	CAC1F_HUMAN			35	4179	-			1373			Extracellular (Potential).|IV.		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.4117G>T	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352967	0.61293	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.98090	-4.71;-4.71;-4.71	5.05	5.05	0.67936	Ion transport (1);	0.059921	0.64402	D	0.000003	D	0.96599	0.8890	N	0.10945	0.07	0.80722	D	1	D;P	0.67145	0.996;0.798	D;P	0.77557	0.99;0.74	D	0.96807	0.9594	10	0.33940	T	0.23	.	16.1657	0.81754	0.0:1.0:0.0:0.0	.	1362;1373	F5CIQ9;O60840	.;CAC1F_HUMAN	L	1308;1362;1373	ENSP00000365427:V1308L;ENSP00000321618:V1362L;ENSP00000365441:V1373L	ENSP00000321618:V1362L	V	-	1	0	CACNA1F	48955318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.869000	0.63028	2.067000	0.61834	0.600000	0.82982	GTG		PASS	0.552	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		18	77	18	77	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350935	50350935	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:50350935G>T	ENST00000289292.7	-	6	3490	c.3207C>A	c.(3205-3207)agC>agA	p.S1069R	SHROOM4_ENST00000376020.2_Missense_Mutation_p.S1069R|SHROOM4_ENST00000460112.3_Missense_Mutation_p.S953R			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1069					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.S1069R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AGGCCCGGGTGCTTTGGGGCG	0.597																																						uc004dpe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(3205-3207)AGC>AGA		shroom family member 4							39.0	38.0	38.0					X																	50350935		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350935G>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3207C>A	X.37:g.50350935G>T	ENSP00000289292:p.Ser1069Arg					SHROOM4_uc004dpd.3_RNA	p.S1069R	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			6	3233	-	Ovarian(276;0.236)		1069					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.3207C>A	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	G	8.065	0.768897	0.15983	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.15139	2.87;2.87;2.45	5.65	-3.44	0.04796	.	0.296614	0.32987	N	0.005418	T	0.09774	0.0240	L	0.27053	0.805	0.09310	N	1	P	0.40476	0.718	B	0.33890	0.172	T	0.03863	-1.0997	10	0.66056	D	0.02	.	13.7974	0.63180	0.7309:0.0:0.2691:0.0	.	1069	Q9ULL8	SHRM4_HUMAN	R	1069;1069;953	ENSP00000289292:S1069R;ENSP00000365188:S1069R;ENSP00000421450:S953R	ENSP00000289292:S1069R	S	-	3	2	SHROOM4	50367675	0.001000	0.12720	0.000000	0.03702	0.952000	0.60782	-0.595000	0.05727	-1.563000	0.01680	0.513000	0.50165	AGC		PASS	0.597	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		24	63	24	63	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50351168	50351168	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:50351168T>C	ENST00000289292.7	-	6	3257	c.2974A>G	c.(2974-2976)Aag>Gag	p.K992E	SHROOM4_ENST00000376020.2_Missense_Mutation_p.K992E|SHROOM4_ENST00000460112.3_Missense_Mutation_p.K876E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	992					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.K992E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					AAGCTAGTCTTGGAATGAGCC	0.428																																						uc004dpe.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(2974-2976)AAG>GAG		shroom family member 4							43.0	40.0	41.0					X																	50351168		2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50351168T>C	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2974A>G	X.37:g.50351168T>C	ENSP00000289292:p.Lys992Glu					SHROOM4_uc004dpd.3_RNA	p.K992E	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN			6	3000	-	Ovarian(276;0.236)		992					A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2974A>G	CCDS35277.1	.	.	.	.	.	.	.	.	.	.	T	11.42	1.634945	0.29068	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.16457	2.76;2.76;2.34	5.83	5.83	0.93111	.	0.000000	0.48286	D	0.000198	T	0.23965	0.0580	L	0.29908	0.895	0.30826	N	0.737274	D	0.61080	0.989	P	0.55391	0.775	T	0.09228	-1.0684	10	0.72032	D	0.01	.	12.92	0.58226	0.0:0.0:0.0:1.0	.	992	Q9ULL8	SHRM4_HUMAN	E	992;992;876	ENSP00000289292:K992E;ENSP00000365188:K992E;ENSP00000421450:K876E	ENSP00000289292:K992E	K	-	1	0	SHROOM4	50367908	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	2.439000	0.44846	1.959000	0.56917	0.486000	0.48141	AAG		PASS	0.428	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		7	60	7	60	---	---	---	---
SPIN4	139886	broad.mit.edu	37	X	62570029	62570029	+	Missense_Mutation	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:62570029C>T	ENST00000335144.3	-	1	1189	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	SPIN4-AS1_ENST00000451979.1_RNA|SPIN4_ENST00000374884.2_Missense_Mutation_p.V206M	NM_001012968.2	NP_001012986.2	Q56A73	SPIN4_HUMAN	spindlin family, member 4	224					gamete generation (GO:0007276)			p.V224M(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GGCTTCGCCACCACTTGATGT	0.438																																						uc004dvf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(670-672)GTG>ATG		spindlin family, member 4							88.0	85.0	86.0					X																	62570029		1960	4129	6089	SO:0001583	missense	139886				gamete generation			g.chrX:62570029C>T	AK126931	CCDS43964.1	Xq11.1	2008-02-05			ENSG00000186767	ENSG00000186767			27040	protein-coding gene	gene with protein product						12477932	Standard	NM_001012968		Approved	FLJ44984	uc004dvf.3	Q56A73	OTTHUMG00000021696	ENST00000335144.3:c.670G>A	X.37:g.62570029C>T	ENSP00000334163:p.Val224Met						p.V224M	NM_001012968	NP_001012986	Q56A73	SPIN4_HUMAN			1	1190	-			224					B3KX90|Q5JUL2	Missense_Mutation	SNP	ENST00000335144.3	37	c.670G>A	CCDS43964.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810104	0.32053	.	.	ENSG00000186767	ENST00000374884;ENST00000335144	T;T	0.42131	0.98;0.98	3.75	3.75	0.43078	.	0.173007	0.39475	N	0.001341	T	0.23766	0.0575	N	0.08118	0	0.38089	D	0.936891	B	0.29432	0.244	B	0.27380	0.079	T	0.26326	-1.0106	10	0.59425	D	0.04	-10.1888	12.5993	0.56489	0.0:1.0:0.0:0.0	.	224	Q56A73	SPIN4_HUMAN	M	206;224	ENSP00000364018:V206M;ENSP00000334163:V224M	ENSP00000334163:V224M	V	-	1	0	SPIN4	62486754	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	6.280000	0.72626	2.125000	0.65367	0.538000	0.68166	GTG		PASS	0.438	SPIN4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001012968		35	115	35	115	---	---	---	---
STARD8	9754	broad.mit.edu	37	X	67937293	67937293	+	Silent	SNP	C	C	A	rs138134354	byFrequency	TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:67937293C>A	ENST00000252336.6	+	5	669	c.297C>A	c.(295-297)ccC>ccA	p.P99P	STARD8_ENST00000374599.3_Silent_p.P179P|STARD8_ENST00000374597.3_Silent_p.P99P	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	99					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.P99P(2)|p.P179P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GCCGTGCCCCCAGCTCGAGTG	0.652													c|||	8	0.00211921	0.0061	0.0	3775	,	,		13323	0.0		0.0	False		,,,				2504	0.0					uc004dxa.2																			3	Substitution - coding silent(3)		lung(3)	breast(3)|ovary(2)|pancreas(1)	6						c.(295-297)CCC>CCA		StAR-related lipid transfer (START) domain			,,	39,3796		0,34,5,1598,566	47.0	41.0	43.0		537,297,297	0.8	0.0	X	dbSNP_134	43	0,6728		0,0,0,2428,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	STARD8	NM_001142503.2,NM_001142504.2,NM_014725.4	,,	0,34,5,4026,2438	AA,AC,A,CC,C		0.0,1.0169,0.3692	,,	179/1104,99/1024,99/1024	67937293	39,10524	2203	4300	6503	SO:0001819	synonymous_variant	9754				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity	g.chrX:67937293C>A	D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.297C>A	X.37:g.67937293C>A						STARD8_uc004dxb.2_Silent_p.P179P|STARD8_uc004dxc.3_Silent_p.P99P	p.P99P	NM_014725	NP_055540	Q92502	STAR8_HUMAN			5	669	+			99					A8K6T2|D3DVT9|Q5JST0|Q68DG7	Silent	SNP	ENST00000252336.6	37	c.297C>A	CCDS14390.1																																																																																				PASS	0.652	STARD8-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057026.2	NM_014725		12	41	12	41	---	---	---	---
PJA1	64219	broad.mit.edu	37	X	68383037	68383037	+	Silent	SNP	T	T	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:68383037T>A	ENST00000361478.1	-	2	422	c.45A>T	c.(43-45)ggA>ggT	p.G15G	PJA1_ENST00000477231.1_Intron|PJA1_ENST00000374571.4_Intron|PJA1_ENST00000374584.3_Silent_p.G15G|PJA1_ENST00000374583.1_Silent_p.G15G	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	15					protein catabolic process (GO:0030163)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G15G(2)		endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						ACTGATACCCTCCTGTTGGAT	0.542																																						uc004dxh.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(43-45)GGA>GGT		praja 1 isoform a							116.0	102.0	107.0					X																	68383037		2203	4300	6503	SO:0001819	synonymous_variant	64219						zinc ion binding	g.chrX:68383037T>A	AK021892	CCDS14392.1, CCDS14393.1, CCDS35316.1	Xq13.1	2013-01-09	2012-02-23		ENSG00000181191	ENSG00000181191		"""RING-type (C3HC4) zinc fingers"""	16648	protein-coding gene	gene with protein product		300420	"""praja 1"", ""praja ring finger 1"""			12036302	Standard	NM_001032396		Approved	FLJ11830, RNF70	uc004dxh.3	Q8NG27	OTTHUMG00000021753	ENST00000361478.1:c.45A>T	X.37:g.68383037T>A						PJA1_uc011mpi.1_Intron|PJA1_uc004dxg.2_Silent_p.G15G|PJA1_uc004dxi.2_Intron	p.G15G	NM_145119	NP_660095	Q8NG27	PJA1_HUMAN			2	331	-			15					A2A322|Q5JUT8|Q5JUT9|Q8NG28|Q9HAC1	Silent	SNP	ENST00000361478.1	37	c.45A>T	CCDS14393.1																																																																																				PASS	0.542	PJA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057031.2	NM_145119		37	112	37	112	---	---	---	---
DLG3	1741	broad.mit.edu	37	X	69712107	69712107	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:69712107G>A	ENST00000374360.3	+	11	1904	c.1671G>A	c.(1669-1671)caG>caA	p.Q557Q	DLG3_ENST00000542398.1_Silent_p.Q74Q|DLG3_ENST00000194900.4_Silent_p.Q575Q|DLG3_ENST00000374355.3_Silent_p.Q220Q	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	557	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)	p.Q557Q(1)|p.Q220Q(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AAAGTGAGCAGATCGGTGTGA	0.488																																						uc004dyi.1																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|pancreas(1)	2						c.(1669-1671)CAG>CAA		synapse-associated protein 102 isoform a							97.0	82.0	87.0					X																	69712107		2203	4300	6503	SO:0001819	synonymous_variant	1741				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	g.chrX:69712107G>A	U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1671G>A	X.37:g.69712107G>A						DLG3_uc004dyj.1_Silent_p.Q220Q|DLG3_uc011mpn.1_Silent_p.Q73Q	p.Q557Q	NM_021120	NP_066943	Q92796	DLG3_HUMAN			11	1999	+	Renal(35;0.156)		557			SH3.		B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	ENST00000374360.3	37	c.1671G>A	CCDS14403.1																																																																																				PASS	0.488	DLG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057074.2	NM_021120		16	53	16	53	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70351454	70351454	+	Missense_Mutation	SNP	A	A	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:70351454A>C	ENST00000374080.3	+	29	4134	c.4102A>C	c.(4102-4104)Aag>Cag	p.K1368Q	MED12_ENST00000374102.1_Missense_Mutation_p.K1368Q|MED12_ENST00000333646.6_Missense_Mutation_p.K1368Q			Q93074	MED12_HUMAN	mediator complex subunit 12	1368					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.K1368Q(2)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCTCATGATCAAGCAGACCCC	0.557			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2				Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(4102-4104)AAG>CAG		mediator complex subunit 12							141.0	131.0	134.0					X																	70351454		2088	4200	6288	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70351454A>C	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.4102A>C	X.37:g.70351454A>C	ENSP00000363193:p.Lys1368Gln					MED12_uc011mpq.1_Missense_Mutation_p.K1368Q|MED12_uc004dyz.2_Missense_Mutation_p.K1368Q|MED12_uc004dza.2_Missense_Mutation_p.K1215Q|MED12_uc010nla.2_5'UTR	p.K1368Q	NM_005120	NP_005111	Q93074	MED12_HUMAN			29	4301	+	Renal(35;0.156)		1368					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.4102A>C	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.251046	0.80135	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	D;D;D;D;T	0.84442	-1.85;-1.85;-1.85;-1.85;1.56	3.43	3.43	0.39272	.	0.000000	0.85682	D	0.000000	D	0.89812	0.6823	M	0.64170	1.965	0.58432	D	0.999994	D;P;D;D	0.89917	1.0;0.89;0.979;0.999	D;P;P;D	0.72982	0.979;0.686;0.882;0.978	D	0.90468	0.4451	10	0.72032	D	0.01	-4.4305	12.109	0.53827	1.0:0.0:0.0:0.0	.	1368;1215;1368;1368	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	Q	1368;1368;1368;1368;1336;113	ENSP00000333125:K1368Q;ENSP00000363215:K1368Q;ENSP00000363193:K1368Q;ENSP00000414203:K1336Q;ENSP00000408388:K113Q	ENSP00000333125:K1368Q	K	+	1	0	MED12	70268179	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.816000	0.91979	1.587000	0.49959	0.486000	0.48141	AAG		PASS	0.557	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		19	68	19	68	---	---	---	---
PHKA1	5255	broad.mit.edu	37	X	71802349	71802349	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:71802349C>G	ENST00000373542.4	-	31	3556	c.3397G>C	c.(3397-3399)Gtc>Ctc	p.V1133L	PHKA1_ENST00000339490.3_Missense_Mutation_p.V1120L|PHKA1_ENST00000373545.3_Missense_Mutation_p.V1091L|PHKA1_ENST00000373539.3_Missense_Mutation_p.V1150L|PHKA1_ENST00000541944.1_Missense_Mutation_p.V1061L	NM_002637.3	NP_002628.2	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	1133					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)	p.V1133L(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ATGGTGAGGACAAGGATGGCT	0.448																																						uc004eax.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3397-3399)GTC>CTC		phosphorylase kinase, alpha 1 (muscle) isoform							115.0	87.0	96.0					X																	71802349		2203	4300	6503	SO:0001583	missense	5255				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:71802349C>G		CCDS14421.1, CCDS48137.1, CCDS55453.1	Xq12-q13	2009-07-10			ENSG00000067177	ENSG00000067177	2.7.11.19		8925	protein-coding gene	gene with protein product		311870		PHKA			Standard	NM_002637		Approved		uc004eax.4	P46020	OTTHUMG00000022696	ENST00000373542.4:c.3397G>C	X.37:g.71802349C>G	ENSP00000362643:p.Val1133Leu					PHKA1_uc004eay.3_Missense_Mutation_p.V1120L|PHKA1_uc011mqi.1_Missense_Mutation_p.V1061L|PHKA1_uc010nll.2_Missense_Mutation_p.V165L	p.V1133L	NM_002637	NP_002628	P46020	KPB1_HUMAN			31	3698	-	Renal(35;0.156)		1133					B7ZL05|B7ZL07|Q2M3D7	Missense_Mutation	SNP	ENST00000373542.4	37	c.3397G>C	CCDS14421.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506234	0.85282	.	.	ENSG00000067177	ENST00000373545;ENST00000373542;ENST00000541944;ENST00000339490;ENST00000373539	D;D;D;D;D	0.92545	-3.06;-3.06;-3.03;-3.01;-3.04	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.95329	0.8484	M	0.70275	2.135	0.58432	D	0.999999	D;D;D;D	0.89917	0.995;0.965;0.999;1.0	D;P;D;D	0.85130	0.984;0.668;0.994;0.997	D	0.95036	0.8174	10	0.45353	T	0.12	-12.2621	15.0152	0.71578	0.0:1.0:0.0:0.0	.	1061;1091;1120;1133	B7ZL07;A6NIT2;P46020-2;P46020	.;.;.;KPB1_HUMAN	L	1091;1133;1061;1120;1150	ENSP00000362646:V1091L;ENSP00000362643:V1133L;ENSP00000441251:V1061L;ENSP00000342469:V1120L;ENSP00000362640:V1150L	ENSP00000342469:V1120L	V	-	1	0	PHKA1	71719074	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.734000	0.84928	2.132000	0.65825	0.594000	0.82650	GTC		PASS	0.448	PHKA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058896.1			10	83	10	83	---	---	---	---
RLIM	51132	broad.mit.edu	37	X	73811707	73811707	+	Silent	SNP	G	G	A	rs377684121		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:73811707G>A	ENST00000332687.6	-	4	1661	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	RLIM_ENST00000349225.2_Silent_p.S481S	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	481	Poly-Ser.|Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S481S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCACCAccggaactggaac	0.483																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	uc004ebu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1441-1443)TCC>TCT		ring finger protein, LIM domain interacting		G	,	0,3835		0,0,1632,571	35.0	32.0	33.0		1443,1443	-3.6	0.9	X		33	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous	RLIM	NM_016120.3,NM_183353.2	,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,	481/625,481/625	73811707	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811707G>A	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1443C>T	X.37:g.73811707G>A						RLIM_uc004ebw.2_Silent_p.S481S	p.S481S	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN			5	1733	-			481			Ser-rich.|Poly-Ser.		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1443C>T	CCDS14427.1																																																																																				PASS	0.483	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		20	51	20	51	---	---	---	---
ZDHHC15	158866	broad.mit.edu	37	X	74644568	74644568	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:74644568C>A	ENST00000373367.3	-	8	885	c.655G>T	c.(655-657)Gtg>Ttg	p.V219L	ZDHHC15_ENST00000541184.1_Missense_Mutation_p.V210L|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.L178F	NM_144969.2	NP_659406.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	219					establishment of protein localization (GO:0045184)|protein palmitoylation (GO:0018345)|synaptic vesicle maturation (GO:0016188)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V219L(1)		central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						ATGCAGGCCACAAAGAGAAGA	0.388																																						uc004ecg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(655-657)GTG>TTG		zinc finger, DHHC-type containing 15 isoform 1							85.0	64.0	71.0					X																	74644568		2203	4300	6503	SO:0001583	missense	158866					integral to membrane	zinc ion binding	g.chrX:74644568C>A	AK056374	CCDS14430.1, CCDS55454.1	Xq13.3	2008-05-02			ENSG00000102383	ENSG00000102383		"""Zinc fingers, DHHC-type"""	20342	protein-coding gene	gene with protein product		300576					Standard	NM_144969		Approved	FLJ31812, MRX91	uc004ecg.3	Q96MV8	OTTHUMG00000021866	ENST00000373367.3:c.655G>T	X.37:g.74644568C>A	ENSP00000362465:p.Val219Leu					ZDHHC15_uc004ech.2_Missense_Mutation_p.V210L|ZDHHC15_uc011mqo.1_RNA	p.V219L	NM_144969	NP_659406	Q96MV8	ZDH15_HUMAN			8	1133	-			219			Helical; (Potential).		B3KVG7|Q3SY30|Q6UWH3	Missense_Mutation	SNP	ENST00000373367.3	37	c.655G>T	CCDS14430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.53|11.53	1.666334|1.666334	0.29604|0.29604	.|.	.|.	ENSG00000102383|ENSG00000102383	ENST00000373361|ENST00000373367;ENST00000541184	T|T;T	0.34072|0.22945	1.38|1.93;1.93	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.106582	.|0.64402	.|D	.|0.000006	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.25286|0.25286	0.73|0.73	0.29803|0.29803	N|N	0.832265|0.832265	.|B;B	.|0.23806	.|0.01;0.091	.|B;B	.|0.28991	.|0.044;0.097	T|T	0.10989|0.10989	-1.0606|-1.0606	7|10	0.52906|0.15066	T|T	0.07|0.55	-16.4706|-16.4706	14.85|14.85	0.70289|0.70289	0.0:0.8597:0.1403:0.0|0.0:0.8597:0.1403:0.0	.|.	.|210;219	.|B3KVG7;Q96MV8	.|.;ZDH15_HUMAN	F|L	178|219;210	ENSP00000362459:L178F|ENSP00000362465:V219L;ENSP00000445420:V210L	ENSP00000362459:L178F|ENSP00000362465:V219L	L|V	-|-	3|1	2|0	ZDHHC15|ZDHHC15	74561293|74561293	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	5.583000|5.583000	0.67484|0.67484	2.471000|2.471000	0.83476|0.83476	0.600000|0.600000	0.82982|0.82982	TTG|GTG		PASS	0.388	ZDHHC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057283.1	NM_144969		7	22	7	22	---	---	---	---
P2RY10	27334	broad.mit.edu	37	X	78216935	78216935	+	Silent	SNP	C	C	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:78216935C>T	ENST00000171757.2	+	4	1198	c.918C>T	c.(916-918)taC>taT	p.Y306Y	P2RY10_ENST00000544091.1_Silent_p.Y306Y	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	306						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.Y306Y(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TTCTTTATTACTTTATGGCTT	0.488													C|||	1	0.000264901	0.0	0.0014	3775	,	,		13623	0.0		0.0	False		,,,				2504	0.0					uc004ede.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(916-918)TAC>TAT		G-protein coupled purinergic receptor P2Y10							166.0	153.0	157.0					X																	78216935		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216935C>T	AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.918C>T	X.37:g.78216935C>T						P2RY10_uc004edf.2_Silent_p.Y306Y	p.Y306Y	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1287	+			306			Helical; Name=7; (Potential).		D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.918C>T	CCDS14442.1																																																																																				PASS	0.488	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			64	207	64	207	---	---	---	---
ITM2A	9452	broad.mit.edu	37	X	78618572	78618572	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:78618572C>A	ENST00000373298.2	-	3	451	c.308G>T	c.(307-309)gGa>gTa	p.G103V	ITM2A_ENST00000434584.2_Missense_Mutation_p.G59V|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	103						integral component of membrane (GO:0016021)		p.G103V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						AGGCTCTCCTCCACGAAGGGA	0.443																																						uc004edh.2																			1	Substitution - Missense(1)		lung(1)	lung(2)	2						c.(307-309)GGA>GTA		integral membrane protein 2A							95.0	72.0	80.0					X																	78618572		2203	4300	6503	SO:0001583	missense	9452					integral to membrane	protein binding	g.chrX:78618572C>A	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.308G>T	X.37:g.78618572C>A	ENSP00000362395:p.Gly103Val					ITM2A_uc011mqr.1_Missense_Mutation_p.G59V	p.G103V	NM_004867	NP_004858	O43736	ITM2A_HUMAN			3	643	-			103					B2R7X5|B4E062|Q6IBC9	Missense_Mutation	SNP	ENST00000373298.2	37	c.308G>T	CCDS14444.1	.	.	.	.	.	.	.	.	.	.	c	12.41	1.930252	0.34096	.	.	ENSG00000078596	ENST00000373298;ENST00000434584	T;T	0.20598	2.06;2.06	4.12	3.25	0.37280	.	0.430009	0.22348	N	0.061245	T	0.10423	0.0255	N	0.08118	0	0.58432	D	0.999996	B;B	0.22276	0.02;0.067	B;B	0.18263	0.021;0.008	T	0.14062	-1.0486	10	0.34782	T	0.22	-12.4907	9.8683	0.41157	0.0:0.8936:0.0:0.1064	.	59;103	B4E062;O43736	.;ITM2A_HUMAN	V	103;59	ENSP00000362395:G103V;ENSP00000415533:G59V	ENSP00000362395:G103V	G	-	2	0	ITM2A	78505228	0.004000	0.15560	0.362000	0.25862	0.935000	0.57460	0.420000	0.21263	0.556000	0.29098	0.411000	0.27672	GGA		PASS	0.443	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		12	40	12	40	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	86067949	86067949	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:86067949G>T	ENST00000373125.4	+	8	1331	c.1331G>T	c.(1330-1332)gGa>gTa	p.G444V	DACH2_ENST00000508860.1_Missense_Mutation_p.G277V|DACH2_ENST00000373131.1_Missense_Mutation_p.G431V|DACH2_ENST00000510272.1_Missense_Mutation_p.G225V	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	444					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.G444V(1)|p.G431V(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						GGATTCCCTGGACCATTCATT	0.423																																						uc004eew.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1330-1332)GGA>GTA		dachshund 2 isoform a							52.0	48.0	50.0					X																	86067949		2203	4299	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86067949G>T	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.1331G>T	X.37:g.86067949G>T	ENSP00000362217:p.Gly444Val					DACH2_uc004eex.2_Missense_Mutation_p.G431V|DACH2_uc010nmq.2_Missense_Mutation_p.G310V|DACH2_uc011mra.1_Missense_Mutation_p.G277V|DACH2_uc010nmr.2_Missense_Mutation_p.G225V|DACH2_uc004eey.2_Missense_Mutation_p.G127V|DACH2_uc004eez.2_Missense_Mutation_p.G127V	p.G444V	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			8	1501	+			444					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1331G>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160329	0.38119	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.82167	-1.56;-1.58	4.86	3.98	0.46160	.	0.299203	0.28031	N	0.016880	T	0.65954	0.2741	N	0.08118	0	0.48135	D	0.999599	B;B;P;P	0.42296	0.215;0.215;0.775;0.544	B;B;B;B	0.42282	0.101;0.101;0.382;0.227	T	0.65557	-0.6139	10	0.37606	T	0.19	.	6.7015	0.23227	0.0:0.3963:0.4655:0.1383	.	310;444;431;444	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	V	444;431;444;277;225;277;99	ENSP00000362223:G431V;ENSP00000362217:G444V	ENSP00000345134:G444V	G	+	2	0	DACH2	85954605	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.824000	0.62701	1.998000	0.58463	0.513000	0.50165	GGA		PASS	0.423	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		9	26	9	26	---	---	---	---
PCDH11X	27328	broad.mit.edu	37	X	91133468	91133468	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:91133468C>G	ENST00000373094.1	+	2	3074	c.2229C>G	c.(2227-2229)gaC>gaG	p.D743E	PCDH11X_ENST00000373088.1_Missense_Mutation_p.D743E|PCDH11X_ENST00000504220.2_Missense_Mutation_p.D743E|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D743E|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D743E|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D743E|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D743E|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D743E|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D743E	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	743	Cadherin 7. {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.D743E(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						ATGTTACAGACCTTGGTTTAC	0.413																																					NSCLC(38;925 1092 2571 38200 45895)	uc004efk.1																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)	2						c.(2227-2229)GAC>GAG		protocadherin 11 X-linked isoform c							72.0	62.0	65.0					X																	91133468		2202	4279	6481	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91133468C>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.2229C>G	X.37:g.91133468C>G	ENSP00000362186:p.Asp743Glu					PCDH11X_uc004efl.1_Missense_Mutation_p.D743E|PCDH11X_uc004efo.1_Missense_Mutation_p.D743E|PCDH11X_uc010nmv.1_Missense_Mutation_p.D743E|PCDH11X_uc004efm.1_Missense_Mutation_p.D743E|PCDH11X_uc004efn.1_Missense_Mutation_p.D743E|PCDH11X_uc004efh.1_Missense_Mutation_p.D743E|PCDH11X_uc004efj.1_Missense_Mutation_p.D743E	p.D743E	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN			2	3074	+			743			Cadherin 7.|Extracellular (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.2229C>G	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	C	8.933	0.963854	0.18583	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.0	-1.9	0.07665	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.49966	0.1588	L	0.27944	0.81	0.32171	N	0.581571	D;D;D;D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.978;0.999;0.999;0.999;0.999;0.999;0.999	T	0.58109	-0.7694	10	0.66056	D	0.02	.	11.7342	0.51755	0.0:0.4424:0.0:0.5576	.	743;743;743;743;743;743;743;743	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	E	743	ENSP00000378746:D743E;ENSP00000362186:D743E;ENSP00000362189:D743E;ENSP00000355040:D743E;ENSP00000362180:D743E;ENSP00000423762:D743E;ENSP00000355105:D743E;ENSP00000384758:D743E;ENSP00000298274:D743E	ENSP00000298274:D743E	D	+	3	2	PCDH11X	91020124	1.000000	0.71417	0.760000	0.31359	0.311000	0.27955	0.990000	0.29642	-0.596000	0.05821	-0.306000	0.09157	GAC		PASS	0.413	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		13	96	13	96	---	---	---	---
SRPX2	27286	broad.mit.edu	37	X	99924320	99924320	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:99924320C>A	ENST00000373004.3	+	10	1599	c.1171C>A	c.(1171-1173)Cgc>Agc	p.R391S		NM_014467.2	NP_055282.1	O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2	391					angiogenesis (GO:0001525)|cell motility (GO:0048870)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of synapse assembly (GO:0051965)|regulation of phosphorylation (GO:0042325)|single organismal cell-cell adhesion (GO:0016337)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|excitatory synapse (GO:0060076)|extracellular space (GO:0005615)|synaptic membrane (GO:0097060)	hepatocyte growth factor binding (GO:0036458)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)	p.R391S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						GGAGGTGGGGCGCATCCGGGA	0.612																																						uc004egb.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1171-1173)CGC>AGC		sushi-repeat-containing protein, X-linked 2							63.0	47.0	52.0					X																	99924320		2203	4300	6503	SO:0001583	missense	27286				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding	g.chrX:99924320C>A	AF393649	CCDS14471.1	Xq21.33-q23	2011-01-25	2011-01-25		ENSG00000102359	ENSG00000102359			30668	protein-coding gene	gene with protein product		300642	"""sushi-repeat-containing protein, X-linked 2"""			9864177	Standard	NM_014467		Approved	SRPUL	uc004egb.3	O60687	OTTHUMG00000022003	ENST00000373004.3:c.1171C>A	X.37:g.99924320C>A	ENSP00000362095:p.Arg391Ser						p.R391S	NM_014467	NP_055282	O60687	SRPX2_HUMAN			10	1651	+			391					B3KQT3|Q8WW85	Missense_Mutation	SNP	ENST00000373004.3	37	c.1171C>A	CCDS14471.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.283831	0.80803	.	.	ENSG00000102359	ENST00000373004	T	0.27402	1.67	5.43	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.51041	0.1651	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47222	-0.9134	9	.	.	.	-13.3768	12.9908	0.58618	0.2925:0.7075:0.0:0.0	.	391	O60687	SRPX2_HUMAN	S	391	ENSP00000362095:R391S	.	R	+	1	0	SRPX2	99810976	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.358000	0.59442	1.005000	0.39183	0.600000	0.82982	CGC		PASS	0.612	SRPX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057486.1	NM_014467		10	37	10	37	---	---	---	---
TCEAL6	158931	broad.mit.edu	37	X	101396002	101396002	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:101396002G>A	ENST00000372774.3	-	3	551	c.302C>T	c.(301-303)cCg>cTg	p.P101L	TCEAL6_ENST00000372773.1_Missense_Mutation_p.P101L	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.P101L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ATCTCCAGCCGGGCGCTTTTC	0.612																																						uc004eiq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(301-303)CCG>CTG		transcription elongation factor A (SII)-like 6							81.0	86.0	84.0					X																	101396002		2202	4298	6500	SO:0001583	missense	158931				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:101396002G>A	BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.302C>T	X.37:g.101396002G>A	ENSP00000361860:p.Pro101Leu						p.P101L	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN			3	463	-			101					Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	c.302C>T	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	G	8.396	0.840742	0.16891	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.12465	2.68;2.68	2.75	0.892	0.19230	.	0.000000	0.36268	N	0.002695	T	0.11665	0.0284	M	0.74258	2.255	0.18873	N	0.999988	B	0.33448	0.412	B	0.23018	0.043	T	0.23511	-1.0186	10	0.72032	D	0.01	.	2.7702	0.05332	0.1646:0.0:0.5578:0.2776	.	101	Q6IPX3-2	.	L	101	ENSP00000361860:P101L;ENSP00000361859:P101L	ENSP00000361859:P101L	P	-	2	0	TCEAL6	101282658	0.455000	0.25736	0.037000	0.18230	0.645000	0.38454	0.413000	0.21148	0.107000	0.17824	0.468000	0.43344	CCG		PASS	0.612	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938		40	151	40	151	---	---	---	---
PLP1	5354	broad.mit.edu	37	X	103042767	103042767	+	Missense_Mutation	SNP	T	T	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:103042767T>C	ENST00000303958.2	+	4	640	c.494T>C	c.(493-495)cTg>cCg	p.L165P	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000418604.1_Missense_Mutation_p.L165P|PLP1_ENST00000361621.2_Missense_Mutation_p.L130P	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	165			Missing (in HLD1).		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)	p.L165P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						GTGTGGCTCCTGGTGTTTGCC	0.507																																						uc010nov.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(493-495)CTG>CCG		proteolipid protein 1 isoform 1							279.0	187.0	218.0					X																	103042767		2203	4300	6503	SO:0001583	missense	5354				cell death|synaptic transmission	integral to membrane		g.chrX:103042767T>C	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.494T>C	X.37:g.103042767T>C	ENSP00000305152:p.Leu165Pro					RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Missense_Mutation_p.L165P|PLP1_uc004elj.2_Missense_Mutation_p.L130P|PLP1_uc011msf.1_Missense_Mutation_p.L110P|PLP1_uc010nox.2_Missense_Mutation_p.L119P	p.L165P	NM_001128834	NP_001122306	P60201	MYPR_HUMAN			5	774	+			165		Missing (in HLD1).	Helical; Name=3; (Probable).		P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	37	c.494T>C	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	T	16.40	3.112883	0.56398	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000361621;ENST00000428755	D;D;D	0.99264	-5.65;-5.65;-5.65	5.73	5.73	0.89815	.	0.379881	0.27668	N	0.018358	D	0.99137	0.9702	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.983	D;D;D;P	0.72338	0.977;0.972;0.972;0.827	D	0.99421	1.0933	10	0.62326	D	0.03	-1.1822	12.7622	0.57372	0.0:0.0:0.0:1.0	.	110;165;165;130	B4DI30;A8K9L3;P60201;P60201-2	.;.;MYPR_HUMAN;.	P	165;165;130;143	ENSP00000405750:L165P;ENSP00000305152:L165P;ENSP00000354860:L130P	ENSP00000305152:L165P	L	+	2	0	PLP1	102929423	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.972000	0.63756	1.921000	0.55644	0.486000	0.48141	CTG		PASS	0.507	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2			7	191	7	191	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105139491	105139491	+	Silent	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:105139491G>T	ENST00000243300.9	+	7	858	c.555G>T	c.(553-555)ctG>ctT	p.L185L	NRK_ENST00000428173.2_Silent_p.L185L	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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.L185L(2)		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						ATGTGCTGCTGACTCATAATG	0.363										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.(553-555)CTG>CTT		Nik related kinase							80.0	78.0	79.0					X																	105139491		1908	4112	6020	SO:0001819	synonymous_variant	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105139491G>T	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.555G>T	X.37:g.105139491G>T		HNSCC(51;0.14)				NRK_uc010npc.1_5'UTR	p.L185L	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			7	858	+			185			Protein kinase.		Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	ENST00000243300.9	37	c.555G>T																																																																																					PASS	0.363	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		28	90	28	90	---	---	---	---
NRK	203447	broad.mit.edu	37	X	105169003	105169003	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:105169003G>T	ENST00000243300.9	+	19	3595	c.3292G>T	c.(3292-3294)Gac>Tac	p.D1098Y	NRK_ENST00000428173.2_Missense_Mutation_p.D1099Y	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1098					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.D1099Y(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						TGCGTCTCAGGACTTTGAATA	0.453										HNSCC(51;0.14)																												uc004emd.2																			1	Substitution - Missense(1)		lung(1)	breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(3292-3294)GAC>TAC		Nik related kinase							83.0	77.0	78.0					X																	105169003		1906	4113	6019	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105169003G>T	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.3292G>T	X.37:g.105169003G>T	ENSP00000434830:p.Asp1098Tyr	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.D766Y	p.D1098Y	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			19	3595	+			1098					Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3292G>T		.	.	.	.	.	.	.	.	.	.	G	14.37	2.515331	0.44763	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.78364	-1.15;-1.17	5.06	3.26	0.37387	.	0.505975	0.16736	N	0.201624	T	0.72622	0.3483	N	0.24115	0.695	0.09310	N	0.999999	D;P	0.54964	0.969;0.91	P;P	0.55999	0.789;0.498	T	0.61481	-0.7054	10	0.54805	T	0.06	.	6.2545	0.20865	0.2293:0.0:0.7707:0.0	.	766;1098	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	Y	1098;1099	ENSP00000434830:D1098Y;ENSP00000438378:D1099Y	ENSP00000434830:D1098Y	D	+	1	0	NRK	105055659	0.098000	0.21812	0.004000	0.12327	0.208000	0.24298	1.255000	0.32909	1.028000	0.39785	0.600000	0.82982	GAC		PASS	0.453	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		26	85	26	85	---	---	---	---
CXorf57	55086	broad.mit.edu	37	X	105868450	105868450	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:105868450G>T	ENST00000372548.4	+	3	1026	c.917G>T	c.(916-918)aGt>aTt	p.S306I	CXorf57_ENST00000372544.2_Missense_Mutation_p.S306I	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	306							poly(A) RNA binding (GO:0044822)	p.S306I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GTTAAAAAGAGTTATCCATTC	0.393																																						uc004emi.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|breast(1)	3						c.(916-918)AGT>ATT		hypothetical protein LOC55086							164.0	139.0	147.0					X																	105868450		2203	4300	6503	SO:0001583	missense	55086							g.chrX:105868450G>T	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.917G>T	X.37:g.105868450G>T	ENSP00000361628:p.Ser306Ile					CXorf57_uc004emj.3_Missense_Mutation_p.S306I|CXorf57_uc004emh.2_Missense_Mutation_p.S306I	p.S306I	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			3	1068	+			306					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	c.917G>T	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	G	17.34	3.365990	0.61513	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.51817	0.71;0.69;0.76	3.89	2.99	0.34606	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.094242	0.64402	D	0.000001	T	0.60625	0.2283	L	0.56769	1.78	0.40881	D	0.983998	D;D;D	0.67145	0.995;0.995;0.996	D;D;P	0.66497	0.944;0.944;0.906	T	0.63883	-0.6536	10	0.72032	D	0.01	-13.5225	11.8686	0.52507	0.0:0.175:0.825:0.0	.	306;306;306	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	I	306;306;114	ENSP00000361623:S306I;ENSP00000361628:S306I;ENSP00000405866:S114I	ENSP00000361623:S306I	S	+	2	0	CXorf57	105755106	1.000000	0.71417	0.987000	0.45799	0.983000	0.72400	4.459000	0.60102	0.724000	0.32296	0.600000	0.82982	AGT		PASS	0.393	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015		33	112	33	112	---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106046203	106046203	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:106046203G>A	ENST00000357242.5	+	1	294	c.120G>A	c.(118-120)ggG>ggA	p.G40G	TBC1D8B_ENST00000276175.3_Silent_p.G40G|TBC1D8B_ENST00000481617.2_Silent_p.G40G|TBC1D8B_ENST00000310452.2_Silent_p.G40G	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	40							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.G40G(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGGCGGAGGGGGGCTCACAG	0.567																																						uc004emo.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(118-120)GGG>GGA		TBC1 domain family, member 8B (with GRAM domain)							40.0	33.0	35.0					X																	106046203		2203	4300	6503	SO:0001819	synonymous_variant	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106046203G>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.120G>A	X.37:g.106046203G>A						TBC1D8B_uc004emm.2_Silent_p.G40G|TBC1D8B_uc004emn.2_Silent_p.G40G	p.G40G	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			1	285	+			40					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Silent	SNP	ENST00000357242.5	37	c.120G>A	CCDS14522.1																																																																																				PASS	0.567	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		17	42	17	42	---	---	---	---
TBC1D8B	54885	broad.mit.edu	37	X	106097468	106097468	+	Missense_Mutation	SNP	G	G	A	rs202142436		TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:106097468G>A	ENST00000357242.5	+	14	2468	c.2294G>A	c.(2293-2295)cGc>cAc	p.R765H	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.R759H	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	765							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)	p.R765H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAGTATGCGCTGTCGAAAT	0.348																																						uc004emo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2293-2295)CGC>CAC		TBC1 domain family, member 8B (with GRAM domain)		G	HIS/ARG	0,3835		0,0,0,1632,571	91.0	74.0	80.0		2294	4.5	1.0	X		80	2,6724		0,1,1,2427,1869	no	missense	TBC1D8B	NM_017752.2	29	0,1,1,4059,2440	AA,AG,A,GG,G		0.0297,0.0,0.0189	probably-damaging	765/1121	106097468	2,10559	2203	4298	6501	SO:0001583	missense	54885					intracellular	calcium ion binding|Rab GTPase activator activity	g.chrX:106097468G>A	AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2294G>A	X.37:g.106097468G>A	ENSP00000349781:p.Arg765His					MORC4_uc004emp.3_Intron	p.R765H	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN			14	2459	+			765					B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Missense_Mutation	SNP	ENST00000357242.5	37	c.2294G>A	CCDS14522.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.512781	0.85389	0.0	2.97E-4	ENSG00000133138	ENST00000357242;ENST00000276175	T;T	0.20069	2.12;2.1	4.52	4.52	0.55395	.	0.069432	0.64402	D	0.000011	T	0.49423	0.1556	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.58399	-0.7643	10	0.87932	D	0	-1.6123	15.2819	0.73790	0.0:0.0:1.0:0.0	.	765	Q0IIM8	TBC8B_HUMAN	H	765;759	ENSP00000349781:R765H;ENSP00000276175:R759H	ENSP00000276175:R759H	R	+	2	0	TBC1D8B	105984124	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.375000	0.97178	1.981000	0.57761	0.540000	0.68198	CGC		PASS	0.348	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057807.2	NM_017752		17	62	17	62	---	---	---	---
PGRMC1	10857	broad.mit.edu	37	X	118370482	118370482	+	Silent	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:118370482G>T	ENST00000217971.7	+	1	267	c.156G>T	c.(154-156)gcG>gcT	p.A52A	PGRMC1_ENST00000535419.1_Silent_p.A52A	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	52					axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)	p.A52A(1)		lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	ACCAGCCGGCGGCCAGCGGCG	0.701																																						uc004erb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(154-156)GCG>GCT		progesterone receptor membrane component 1							20.0	15.0	17.0					X																	118370482		2157	4188	6345	SO:0001819	synonymous_variant	10857					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding	g.chrX:118370482G>T		CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.156G>T	X.37:g.118370482G>T						PGRMC1_uc011mts.1_Silent_p.A52A	p.A52A	NM_006667	NP_006658	O00264	PGRC1_HUMAN			1	272	+			52			Cytoplasmic (Potential).		B7Z1L3|Q9UGJ9	Silent	SNP	ENST00000217971.7	37	c.156G>T	CCDS14576.1																																																																																				PASS	0.701	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058024.1	NM_006667		7	30	7	30	---	---	---	---
UBE2A	7319	broad.mit.edu	37	X	118708716	118708716	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:118708716G>T	ENST00000371558.2	+	1	216	c.42G>T	c.(40-42)aaG>aaT	p.K14N	UBE2A_ENST00000469205.1_3'UTR|UBE2A_ENST00000346330.3_Missense_Mutation_p.K14N	NM_001282161.1|NM_003336.2|NM_181762.1	NP_001269090.1|NP_003327.2|NP_861427.1	P49459	UBE2A_HUMAN	ubiquitin-conjugating enzyme E2A	14					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|DNA repair (GO:0006281)|histone H2A ubiquitination (GO:0033522)|in utero embryonic development (GO:0001701)|maternal process involved in female pregnancy (GO:0060135)|positive regulation of cell proliferation (GO:0008284)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|response to UV (GO:0009411)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|cytosol (GO:0005829)|HULC complex (GO:0033503)|nuclear chromatin (GO:0000790)|XY body (GO:0001741)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)	p.K14N(2)		haematopoietic_and_lymphoid_tissue(1)|lung(7)	8						GGGACTTCAAGAGGTAAACCG	0.766								Rad6 pathway																														uc004erl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(40-42)AAG>AAT	Direct_reversal_of_damage|Rad6_pathway	ubiquitin-conjugating enzyme E2A isoform 1							6.0	6.0	6.0					X																	118708716		2076	4070	6146	SO:0001583	missense	7319				histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chrX:118708716G>T	AK223045	CCDS14580.1, CCDS14581.1	Xq24	2011-05-19	2011-05-19		ENSG00000077721	ENSG00000077721		"""Ubiquitin-conjugating enzymes E2"""	12472	protein-coding gene	gene with protein product		312180	"""ubiquitin-conjugating enzyme E2A (RAD6 homolog)"""			1559696	Standard	NM_003336		Approved	UBC2, HHR6A, RAD6A	uc004erl.3	P49459	OTTHUMG00000022275	ENST00000371558.2:c.42G>T	X.37:g.118708716G>T	ENSP00000360613:p.Lys14Asn					UBE2A_uc004erm.2_Missense_Mutation_p.K14N|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_5'Flank	p.K14N	NM_003336	NP_003327	P49459	UBE2A_HUMAN			1	218	+			14					A6NFE9|A6NGR2|A6NMF5|B2R7R9|D3DWI1|Q4TTG1|Q96FX4	Missense_Mutation	SNP	ENST00000371558.2	37	c.42G>T	CCDS14580.1	.	.	.	.	.	.	.	.	.	.	G	19.41	3.821366	0.71028	.	.	ENSG00000077721	ENST00000371558;ENST00000346330	T;T	0.39056	1.1;1.1	5.24	4.38	0.52667	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.48040	0.1478	M	0.77103	2.36	0.80722	D	1	B;P	0.35872	0.43;0.525	B;B	0.40940	0.243;0.344	T	0.50591	-0.8810	10	0.54805	T	0.06	-5.0E-4	10.2292	0.43245	0.0925:0.0:0.9075:0.0	.	14;14	A6NGR2;P49459	.;UBE2A_HUMAN	N	14	ENSP00000360613:K14N;ENSP00000335027:K14N	ENSP00000335027:K14N	K	+	3	2	UBE2A	118592744	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	4.648000	0.61425	1.191000	0.43056	0.600000	0.82982	AAG		PASS	0.766	UBE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058036.1	NM_003336		3	16	3	16	---	---	---	---
ZBTB33	10009	broad.mit.edu	37	X	119387961	119387961	+	Missense_Mutation	SNP	C	C	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:119387961C>A	ENST00000326624.2	+	2	919	c.691C>A	c.(691-693)Cct>Act	p.P231T	ZBTB33_ENST00000557385.1_Missense_Mutation_p.P231T	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	231					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)	p.P231T(1)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGATGTTGCACCTAGTGCTAG	0.468																																						uc004esn.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(691-693)CCT>ACT		kaiso							84.0	74.0	78.0					X																	119387961		2203	4299	6502	SO:0001583	missense	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119387961C>A	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.691C>A	X.37:g.119387961C>A	ENSP00000314153:p.Pro231Thr					ZBTB33_uc010nqm.1_Missense_Mutation_p.P231T	p.P231T	NM_006777	NP_006768	Q86T24	KAISO_HUMAN			2	919	+			231					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	ENST00000326624.2	37	c.691C>A	CCDS14596.1	.	.	.	.	.	.	.	.	.	.	C	4.974	0.180926	0.09443	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.12147	2.71;2.71	5.67	4.8	0.61643	.	0.590006	0.19221	N	0.119678	T	0.10078	0.0247	L	0.36672	1.1	0.27229	N	0.959441	B	0.30068	0.267	B	0.25140	0.058	T	0.17868	-1.0355	10	0.18276	T	0.48	-14.7499	10.1665	0.42884	0.0:0.8488:0.0:0.1512	.	231	Q86T24	KAISO_HUMAN	T	231	ENSP00000314153:P231T;ENSP00000450969:P231T	ENSP00000314153:P231T	P	+	1	0	ZBTB33;AC002086.1	119271989	0.979000	0.34478	1.000000	0.80357	0.945000	0.59286	1.217000	0.32455	2.527000	0.85204	0.600000	0.82982	CCT		PASS	0.468	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		8	83	8	83	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119660631	119660631	+	Nonsense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:119660631G>T	ENST00000404115.3	-	22	3128	c.2727C>A	c.(2725-2727)taC>taA	p.Y909*	CUL4B_ENST00000371322.5_Nonsense_Mutation_p.Y891*|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.Y896*	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	909					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.Y891*(1)|p.Y909*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAATATAGTTGTACTGGTTTG	0.363																																						uc004esw.2																			2	Substitution - Nonsense(2)		lung(2)	lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2725-2727)TAC>TAA		cullin 4B isoform 1							287.0	226.0	247.0					X																	119660631		2203	4300	6503	SO:0001587	stop_gained	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119660631G>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2727C>A	X.37:g.119660631G>T	ENSP00000384109:p.Tyr909*					CUL4B_uc010nqq.2_Nonsense_Mutation_p.Y610*|CUL4B_uc004esv.2_Nonsense_Mutation_p.Y891*	p.Y909*	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			22	3164	-			909					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Nonsense_Mutation	SNP	ENST00000404115.3	37	c.2727C>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	37	6.593172	0.97688	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	.	.	.	5.66	4.8	0.61643	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.42436	D	0.99269	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.1513	12.6679	0.56851	0.0803:0.0:0.9197:0.0	.	.	.	.	X	891;896;909	.	.	Y	-	3	2	CUL4B	119544659	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.872000	0.56085	1.158000	0.42547	0.594000	0.82650	TAC		PASS	0.363	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		15	95	15	95	---	---	---	---
THOC2	57187	broad.mit.edu	37	X	122772854	122772854	+	Missense_Mutation	SNP	C	C	G			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:122772854C>G	ENST00000245838.8	-	17	1802	c.1771G>C	c.(1771-1773)Gat>Cat	p.D591H	THOC2_ENST00000355725.4_Missense_Mutation_p.D591H|THOC2_ENST00000491737.1_Missense_Mutation_p.D476H	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	591					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)	p.D591H(1)|p.D512H(1)		breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ATTAAGTTATCATACTTCTGT	0.343																																						uc004etu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1771-1773)GAT>CAT		THO complex 2							187.0	178.0	181.0					X																	122772854		1857	4081	5938	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122772854C>G	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1771G>C	X.37:g.122772854C>G	ENSP00000245838:p.Asp591His					THOC2_uc011muh.1_Missense_Mutation_p.D516H	p.D591H	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			17	1803	-			591					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.1771G>C	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244986	0.79912	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.51	4.65	0.58169	THO complex, subunitTHOC2, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.84211	0.5422	M	0.89715	3.055	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.87045	0.2143	9	0.87932	D	0	-18.0313	13.5104	0.61508	0.0:0.9228:0.0:0.0772	.	516;591	B4DKZ6;Q8NI27	.;THOC2_HUMAN	H	591;591;476;516	.	ENSP00000245838:D591H	D	-	1	0	THOC2	122600535	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.815000	0.86186	1.092000	0.41356	0.541000	0.68203	GAT		PASS	0.343	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			71	207	71	207	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123164847	123164847	+	Missense_Mutation	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:123164847G>T	ENST00000371160.1	+	5	450	c.160G>T	c.(160-162)Ggc>Tgc	p.G54C	STAG2_ENST00000371157.3_Missense_Mutation_p.G54C|STAG2_ENST00000371145.3_Missense_Mutation_p.G54C|STAG2_ENST00000218089.9_Missense_Mutation_p.G54C|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_5'UTR|STAG2_ENST00000371144.3_Missense_Mutation_p.G54C	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	54					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.G54C(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AGCAGAAAAGGGCAAAGGTGG	0.413																																						uc004etz.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|skin(1)	5						c.(160-162)GGC>TGC		stromal antigen 2 isoform b							137.0	114.0	122.0					X																	123164847		2203	4300	6503	SO:0001583	missense	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123164847G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.160G>T	X.37:g.123164847G>T	ENSP00000360202:p.Gly54Cys					STAG2_uc004eua.2_Missense_Mutation_p.G54C|STAG2_uc004eub.2_Missense_Mutation_p.G54C|STAG2_uc004euc.2_Missense_Mutation_p.G54C|STAG2_uc004eud.2_Missense_Mutation_p.G54C|STAG2_uc004eue.2_Missense_Mutation_p.G54C	p.G54C	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			4	499	+			54					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	ENST00000371160.1	37	c.160G>T	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332244	0.60853	.	.	ENSG00000101972	ENST00000394477;ENST00000218089;ENST00000455404;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215;ENST00000394478	T;T;T;T;T;T	0.48201	1.77;0.82;1.36;1.36;1.77;1.36	5.32	4.46	0.54185	.	0.210963	0.50627	D	0.000112	T	0.51534	0.1680	L	0.56769	1.78	0.80722	D	1	P;D	0.53619	0.8;0.961	B;P	0.48334	0.424;0.574	T	0.55379	-0.8150	10	0.59425	D	0.04	-2.2724	13.301	0.60326	0.0788:0.0:0.9212:0.0	.	54;54	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	C	54	ENSP00000218089:G54C;ENSP00000397265:G54C;ENSP00000360202:G54C;ENSP00000360199:G54C;ENSP00000360187:G54C;ENSP00000360186:G54C	ENSP00000218089:G54C	G	+	1	0	STAG2	122992528	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.385000	0.73182	1.128000	0.42052	0.594000	0.82650	GGC		PASS	0.413	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603		10	63	10	63	---	---	---	---
STAG2	10735	broad.mit.edu	37	X	123227995	123227995	+	Splice_Site	SNP	G	G	C			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:123227995G>C	ENST00000371160.1	+	32	3884		c.e32+1		STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000371144.3_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.?(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TATAGATTTGGTAAGAAACTT	0.328																																						uc004etz.3																			2	Unknown(2)		lung(2)	ovary(4)|skin(1)	5						c.e31+1		stromal antigen 2 isoform b							155.0	142.0	146.0					X																	123227995		2203	4300	6503	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123227995G>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.3594+1G>C	X.37:g.123227995G>C						STAG2_uc004eua.2_Splice_Site_p.L1235_splice|STAG2_uc004eub.2_Splice_Site_p.L1198_splice|STAG2_uc004euc.2_Splice_Site_p.L1235_splice|STAG2_uc004eud.2_Splice_Site_p.L1198_splice|STAG2_uc004eue.2_Splice_Site_p.L1198_splice	p.L1198_splice	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			31	3933	+								B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37	c.3594_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.366858	0.61513	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7435	0.88413	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123055676	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	9.809000	0.99208	2.208000	0.71279	0.600000	0.82982	.		PASS	0.328	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Intron	43	141	43	141	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123518143	123518144	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:123518143_123518144CC>AT	ENST00000371130.3	-	29	6679_6680	c.6616_6617GG>AT	c.(6616-6618)GGa>ATa	p.G2206I	TENM1_ENST00000422452.2_Missense_Mutation_p.G2213I|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2206					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.G2208V(1)|p.G2208R(1)|p.G2208I(1)									CTGAATTTCTCCTAATCTGGTG	0.421																																						uc004euj.2																			3	Substitution - Missense(3)		lung(3)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(6616-6618)GGA>GTA|c.(6616-6618)GGA>AGA		odz, odd Oz/ten-m homolog 1 isoform 3																																				SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123518143C>A|g.chrX:123518144C>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6616_6617delinsAT	X.37:g.123518143_123518144delinsAT	ENSP00000360171:p.Gly2206Ile					ODZ1_uc011muj.1_Missense_Mutation_p.G2212V|ODZ1_uc010nqy.2_Missense_Mutation_p.G2213V|ODZ1_uc011muj.1_Missense_Mutation_p.G2212R|ODZ1_uc010nqy.2_Missense_Mutation_p.G2213R	p.G2206V|p.G2206R	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			29	6681|6680	-			2206			Extracellular (Potential).|YD 19.		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6617G>T|c.6616G>A	CCDS14609.1																																																																																				PASS	0.421	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		27|25	93	25	93	---	---	---	---
MIR891A	100126341	broad.mit.edu	37	X	145109344	145109344	+	RNA	SNP	G	G	T			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:145109344G>T	ENST00000401237.1	-	0	46					NR_030581.1				microRNA 891a																		atgtgCCACTGAGTATTTTAC	0.413																																						hsa-mir-891a|MI0005524																			0					0															131.0	103.0	112.0					X																	145109344		1568	3582	5150			100126341							g.chrX:145109344G>T			Xq27.3	2011-09-12		2008-12-18	ENSG00000216056	ENSG00000216056		"""ncRNAs / Micro RNAs"""	33635	non-coding RNA	RNA, micro				MIRN891A			Standard	NR_030581		Approved	hsa-mir-891a	uc022cft.1				X.37:g.145109344G>T																-									RNA	SNP	ENST00000401237.1	37	c.47G>T																																																																																					PASS	0.413	MIR891A-201	KNOWN	basic	miRNA	miRNA		NR_030581		11	63	11	63	---	---	---	---
MAGEA12	4111	broad.mit.edu	37	X	151900625	151900625	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:151900625G>A	ENST00000357916.4	-	2	331	c.176C>T	c.(175-177)cCa>cTa	p.P59L	CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393900.3_Missense_Mutation_p.P59L|MAGEA12_ENST00000393869.3_Missense_Mutation_p.P59L|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370287.3_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	59								p.P59L(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGACTTGGTGACTCGGC	0.602																																						uc010ntp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(175-177)CCA>CTA		melanoma antigen family A, 12							85.0	84.0	84.0					X																	151900625		2203	4300	6503	SO:0001583	missense	4111							g.chrX:151900625G>A		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.176C>T	X.37:g.151900625G>A	ENSP00000350592:p.Pro59Leu					MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.P59L|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank	p.P59L	NM_005367	NP_005358	P43365	MAGAC_HUMAN			3	530	-	Acute lymphoblastic leukemia(192;6.56e-05)		59					Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	37	c.176C>T	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	G	2.450	-0.326555	0.05350	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.05925	3.37;3.37;3.37	1.14	-2.28	0.06826	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.06005	0.0156	L	0.48877	1.53	0.09310	N	1	B	0.02656	0.0	B	0.11329	0.006	T	0.35325	-0.9793	9	0.49607	T	0.09	.	5.9896	0.19454	0.0:0.5237:0.4763:0.0	.	59	P43365	MAGAC_HUMAN	L	59	ENSP00000350592:P59L;ENSP00000377447:P59L;ENSP00000377478:P59L	ENSP00000350592:P59L	P	-	2	0	MAGEA12	151651281	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.477000	0.06583	-0.851000	0.04147	0.179000	0.17066	CCA		PASS	0.602	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		31	123	31	123	---	---	---	---
ZNF275	10838	broad.mit.edu	37	X	152612647	152612647	+	Silent	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:152612647G>A	ENST00000421401.3	+	4	681	c.504G>A	c.(502-504)gcG>gcA	p.A168A	ZNF275_ENST00000440091.1_Silent_p.A198A|ZNF275_ENST00000370249.2_Silent_p.A115A|ZNF275_ENST00000370251.3_Silent_p.A168A			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	168					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.A115A(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAATGCCGCGGAGAAGAGGG	0.602																																						uc004fhg.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(502-504)GCG>GCA		SubName: Full=cDNA FLJ16723 fis, clone UTERU3004418, highly similar to Zinc finger protein 275; SubName: Full=Putative uncharacterized protein ZNF275;							44.0	47.0	46.0					X																	152612647		2144	4225	6369	SO:0001819	synonymous_variant	10838					intracellular	nucleic acid binding|zinc ion binding	g.chrX:152612647G>A	BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.504G>A	X.37:g.152612647G>A						ZNF275_uc011mym.1_Silent_p.A168A|ZNF275_uc011myn.1_Silent_p.A105A	p.A168A			A6NFS0	A6NFS0_HUMAN			4	681	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		168					A6NE92	Silent	SNP	ENST00000421401.3	37	c.504G>A																																																																																					PASS	0.602	ZNF275-201	KNOWN	basic	protein_coding	protein_coding		NM_001080485		5	48	5	48	---	---	---	---
VBP1	7411	broad.mit.edu	37	X	154448556	154448556	+	Missense_Mutation	SNP	G	G	A			TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chrX:154448556G>A	ENST00000286428.5	+	2	307	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	VBP1_ENST00000535916.1_Missense_Mutation_p.E59K	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	64					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)		p.E64K(1)		NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAAGTTTATGGAACTCAACCT	0.308																																						uc004fnc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(190-192)GAA>AAA		von Hippel-Lindau binding protein 1							35.0	33.0	34.0					X																	154448556		2203	4296	6499	SO:0001583	missense	7411				'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding	g.chrX:154448556G>A	U56833	CCDS14765.1	Xq28	2008-07-07			ENSG00000155959	ENSG00000155959			12662	protein-coding gene	gene with protein product	"""prefoldin 3"""	300133				8674032, 9339366	Standard	NM_003372		Approved	PFD3, PFDN3	uc004fnc.3	P61758	OTTHUMG00000022666	ENST00000286428.5:c.190G>A	X.37:g.154448556G>A	ENSP00000286428:p.Glu64Lys					VBP1_uc004fnd.2_Missense_Mutation_p.E27K	p.E64K	NM_003372	NP_003363	P61758	PFD3_HUMAN			2	249	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		64					B2R8L5|O55228|Q15765|Q5JT81|Q86X96	Missense_Mutation	SNP	ENST00000286428.5	37	c.190G>A	CCDS14765.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742099	0.89573	.	.	ENSG00000155959	ENST00000535916;ENST00000286428	T;T	0.76578	-1.03;-1.03	4.74	4.74	0.60224	Prefoldin (1);Prefoldin subunit (1);	0.044992	0.85682	D	0.000000	D	0.83524	0.5273	M	0.92367	3.3	0.80722	D	1	P	0.40398	0.716	B	0.40444	0.329	D	0.87815	0.2634	10	0.72032	D	0.01	-11.4162	14.6703	0.68939	0.0:0.0:1.0:0.0	.	64	P61758	PFD3_HUMAN	K	59;64	ENSP00000438694:E59K;ENSP00000286428:E64K	ENSP00000286428:E64K	E	+	1	0	VBP1	154101750	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.428000	0.97476	2.263000	0.75096	0.600000	0.82982	GAA		PASS	0.308	VBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058806.1			10	57	10	57	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-56-6545-01A-11D-1817-08	TCGA-56-6545-10A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	16756a08-8308-4ad3-9e21-2cea0cd7028e	1f9d3958-efe9-4761-978a-8fd0655dc3ec	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				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)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					uc001qbc.2																			0				breast(1)|central_nervous_system(1)	2						c.(4093-4098)CGGAGTdel		roundabout, axon guidance receptor, homolog 3				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	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.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_uc001qbd.2_In_Frame_Del_p.RS292del|ROBO3_uc010sar.1_In_Frame_Del_p.RS416del|ROBO3_uc001qbe.2_In_Frame_Del_p.RS292del|ROBO3_uc001qbf.1_In_Frame_Del_p.RS251del	p.RS1367del	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	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)	1367_1368			Cytoplasmic (Potential).			In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																					0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		3	3	3	3	---	---	---	---
