#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
AGTRAP	57085	broad.mit.edu	37	1	11808667	11808667	+	Splice_Site	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:11808667G>T	ENST00000314340.5	+	4	418	c.364G>T	c.(364-366)Ggt>Tgt	p.G122C	AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000376629.4_Intron|AGTRAP_ENST00000452018.2_Intron|AGTRAP_ENST00000491346.1_Intron|AGTRAP_ENST00000376637.3_Intron|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000510878.1_Splice_Site_p.L86L	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein	122	Interaction with AGTR1.				regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)	p.G122C(1)	AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGTCCACACTGGTGAGGCCAC	0.662																																						uc001asv.2																		AGTRAP/BRAF(2)	1	Substitution - Missense(1)		lung(1)	stomach(2)	2						c.(364-366)GGT>TGT		angiotensin II receptor-associated protein							49.0	41.0	44.0					1																	11808667		2203	4300	6503	SO:0001630	splice_region_variant	57085					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	g.chr1:11808667G>T	AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.364+1G>T	1.37:g.11808667G>T						AGTRAP_uc001ast.2_3'UTR|AGTRAP_uc001asu.2_Intron|AGTRAP_uc001asw.2_Intron|AGTRAP_uc001asx.2_Intron	p.G122C	NM_020350	NP_065083	Q6RW13	ATRAP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	488	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	122			Cytoplasmic (Potential).|Interaction with AGTR1.		A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	Missense_Mutation	SNP	ENST00000314340.5	37	c.364G>T	CCDS136.1	.	.	.	.	.	.	.	.	.	.	G	33	5.256385	0.95336	.	.	ENSG00000177674	ENST00000314340	T	0.55930	0.49	3.93	3.93	0.45458	.	0.081792	0.47852	U	0.000218	T	0.65984	0.2744	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65660	-0.6114	9	.	.	.	.	13.8422	0.63446	0.0:0.0:1.0:0.0	.	122	Q6RW13	ATRAP_HUMAN	C	122	ENSP00000319713:G122C	.	G	+	1	0	AGTRAP	11731254	1.000000	0.71417	0.843000	0.33291	0.746000	0.42486	7.927000	0.87577	2.208000	0.71279	0.462000	0.41574	GGT		PASS	0.662	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006335.1	NM_020350	Missense_Mutation	12	32	12	32	---	---	---	---
HSPG2	3339	broad.mit.edu	37	1	22163388	22163388	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:22163388C>G	ENST00000374695.3	-	75	10341	c.10262G>C	c.(10261-10263)tGt>tCt	p.C3421S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3421	Ig-like C2-type 20.				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.C3421S(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)	GGGCACAGCACAGTGGAACTC	0.652																																						uc001bfj.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(10261-10263)TGT>TCT		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						50.0	41.0	44.0					1																	22163388		2191	4292	6483	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22163388C>G	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.10262G>C	1.37:g.22163388C>G	ENSP00000363827:p.Cys3421Ser					HSPG2_uc009vqd.2_Missense_Mutation_p.C3422S	p.C3421S	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)	75	10302	-		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)	3421			Ig-like C2-type 20.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.10262G>C	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680820	0.88542	.	.	ENSG00000142798	ENST00000374695	T	0.65178	-0.14	4.5	4.5	0.54988	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.43260	D	0.000591	D	0.85358	0.5678	H	0.96430	3.82	0.51012	D	0.9999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	D	0.90333	0.4353	10	0.87932	D	0	.	15.9443	0.79782	0.0:1.0:0.0:0.0	.	1361;3421	Q59EG0;P98160	.;PGBM_HUMAN	S	3421	ENSP00000363827:C3421S	ENSP00000363827:C3421S	C	-	2	0	HSPG2	22035975	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	6.556000	0.73932	2.333000	0.79357	0.655000	0.94253	TGT		PASS	0.652	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		2	7	2	7	---	---	---	---
EXTL1	2134	broad.mit.edu	37	1	26357960	26357960	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:26357960C>A	ENST00000374280.3	+	6	2111	c.1244C>A	c.(1243-1245)cCt>cAt	p.P415H	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	415					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)	p.P415H(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTCCCGCCCTGAGGGCAGA	0.637																																						uc001blf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1243-1245)CCT>CAT		exostoses-like 1							12.0	13.0	13.0					1																	26357960		2190	4287	6477	SO:0001583	missense	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26357960C>A	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.1244C>A	1.37:g.26357960C>A	ENSP00000363398:p.Pro415His						p.P415H	NM_004455	NP_004446	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	6	2111	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	415			Lumenal (Potential).		Q6GSC1	Missense_Mutation	SNP	ENST00000374280.3	37	c.1244C>A	CCDS271.1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.471228	0.63625	.	.	ENSG00000158008	ENST00000374280	D	0.95377	-3.69	5.13	4.22	0.49857	.	0.069285	0.64402	D	0.000020	D	0.97461	0.9169	M	0.86343	2.81	0.31891	N	0.617157	D	0.89917	1.0	D	0.70935	0.971	D	0.97139	0.9823	10	0.87932	D	0	-5.3579	10.801	0.46489	0.0:0.9109:0.0:0.089	.	415	Q92935	EXTL1_HUMAN	H	415	ENSP00000363398:P415H	ENSP00000363398:P415H	P	+	2	0	EXTL1	26230547	0.975000	0.34042	0.158000	0.22627	0.994000	0.84299	2.716000	0.47219	1.382000	0.46385	0.561000	0.74099	CCT		PASS	0.637	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		8	6	8	6	---	---	---	---
SPOCD1	90853	broad.mit.edu	37	1	32280096	32280096	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:32280096G>A	ENST00000360482.2	-	2	968	c.839C>T	c.(838-840)tCa>tTa	p.S280L	SPOCD1_ENST00000373648.2_Missense_Mutation_p.S280L|SPOCD1_ENST00000533231.1_Missense_Mutation_p.S280L|SPOCD1_ENST00000257100.3_Intron	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	280					negative regulation of phosphatase activity (GO:0010923)|transcription, DNA-templated (GO:0006351)			p.S280L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTCAGTCCCTGAGGCACATCC	0.637																																						uc001bts.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|breast(1)	6						c.(838-840)TCA>TTA		SPOC domain containing 1							28.0	31.0	30.0					1																	32280096		2203	4299	6502	SO:0001583	missense	90853				transcription, DNA-dependent			g.chr1:32280096G>A	AK058077	CCDS347.1, CCDS60066.1, CCDS72748.1	1p35.1	2014-06-13			ENSG00000134668	ENSG00000134668			26338	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 146"""					12477932	Standard	NM_144569		Approved	FLJ25348, PPP1R146	uc001bts.1	Q6ZMY3	OTTHUMG00000003879	ENST00000360482.2:c.839C>T	1.37:g.32280096G>A	ENSP00000353670:p.Ser280Leu					SPOCD1_uc001btu.2_Missense_Mutation_p.S280L|SPOCD1_uc001btv.2_Intron	p.S280L	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN		STAD - Stomach adenocarcinoma(196;0.18)	2	897	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)	280					Q24JU3|Q6PI90|Q8N869|Q8N8U0|Q8NBC6|Q96LN6	Missense_Mutation	SNP	ENST00000360482.2	37	c.839C>T	CCDS347.1	.	.	.	.	.	.	.	.	.	.	G	13.81	2.347774	0.41599	.	.	ENSG00000134668	ENST00000360482;ENST00000373648;ENST00000533231	T;T;T	0.34667	1.85;1.35;1.86	3.52	0.516	0.17019	.	.	.	.	.	T	0.20088	0.0483	N	0.19112	0.55	0.09310	N	1	B;B	0.17268	0.021;0.012	B;B	0.14023	0.01;0.004	T	0.22068	-1.0227	9	0.59425	D	0.04	0.7251	3.3033	0.06990	0.2544:0.2249:0.5207:0.0	.	280;280	Q6ZMY3-2;Q6ZMY3	.;SPOC1_HUMAN	L	280	ENSP00000353670:S280L;ENSP00000362752:S280L;ENSP00000435851:S280L	ENSP00000353670:S280L	S	-	2	0	SPOCD1	32052683	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.215000	0.09279	0.109000	0.17891	0.514000	0.50259	TCA		PASS	0.637	SPOCD1-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000381912.1	NM_144569		25	85	25	85	---	---	---	---
CYP4B1	1580	broad.mit.edu	37	1	47278168	47278168	+	Splice_Site	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:47278168G>A	ENST00000271153.4	+	4	404	c.368G>A	c.(367-369)gGg>gAg	p.G123E	CYP4B1_ENST00000371919.4_Splice_Site_p.G108E|CYP4B1_ENST00000452782.2_5'UTR|CYP4B1_ENST00000371923.4_Splice_Site_p.G123E			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	123					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)	p.G123E(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	CCTTCCCCAGGGAGAGGCCTG	0.612																																						uc001cqm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(367-369)GGG>GAG		cytochrome P450, family 4, subfamily B,							75.0	61.0	66.0					1																	47278168		2203	4300	6503	SO:0001630	splice_region_variant	1580				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47278168G>A	BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.368-1G>A	1.37:g.47278168G>A						CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqn.3_Missense_Mutation_p.G123E|CYP4B1_uc009vym.2_Missense_Mutation_p.G108E|CYP4B1_uc010omk.1_5'UTR|CYP4B1_uc010oml.1_5'UTR	p.G123E	NM_000779	NP_000770	P13584	CP4B1_HUMAN			4	452	+	Acute lymphoblastic leukemia(166;0.155)		123					Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	ENST00000271153.4	37	c.368G>A	CCDS542.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762070	0.89932	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919	D;D;T	0.82619	-1.63;-1.63;-0.67	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.94785	0.8316	H	0.96748	3.875	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.996;0.998	D	0.95728	0.8772	9	.	.	.	.	20.2876	0.98536	0.0:0.0:1.0:0.0	.	108;123;123	Q8IZB0;P13584-2;P13584	.;.;CP4B1_HUMAN	E	123;123;108	ENSP00000360991:G123E;ENSP00000271153:G123E;ENSP00000360987:G108E	.	G	+	2	0	CYP4B1	47050755	1.000000	0.71417	1.000000	0.80357	0.504000	0.33889	9.428000	0.97476	2.801000	0.96364	0.591000	0.81541	GGG		PASS	0.612	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021911.1	NM_000779	Missense_Mutation	26	18	26	18	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55551676	55551676	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:55551676C>T	ENST00000294383.6	-	56	6703	c.6704G>A	c.(6703-6705)cGa>cAa	p.R2235Q	USP24_ENST00000407756.1_Missense_Mutation_p.R2075Q	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2235					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.R2235Q(1)|p.R2152Q(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CACAGCAACTCGTACTTCTCT	0.408																																						uc001cyg.3																			2	Substitution - Missense(2)		lung(2)	ovary(6)|kidney(6)|breast(1)	13						c.(6223-6225)CGA>CAA		ubiquitin specific protease 24							120.0	115.0	117.0					1																	55551676		1910	4128	6038	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55551676C>T	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.6704G>A	1.37:g.55551676C>T	ENSP00000294383:p.Arg2235Gln						p.R2075Q	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			53	6224	-			2235					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.6224G>A	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989588	0.93106	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.06371	3.31;3.36	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000002	T	0.24624	0.0597	M	0.68593	2.085	0.58432	D	0.999998	D	0.64830	0.994	D	0.64042	0.921	T	0.00033	-1.2272	10	0.87932	D	0	.	20.1346	0.98019	0.0:1.0:0.0:0.0	.	2075	B7WPF4	.	Q	2235;2075	ENSP00000294383:R2235Q;ENSP00000385700:R2075Q	ENSP00000294383:R2235Q	R	-	2	0	USP24	55324264	1.000000	0.71417	0.928000	0.36995	0.993000	0.82548	7.276000	0.78559	2.765000	0.95021	0.655000	0.94253	CGA		PASS	0.408	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			51	40	51	40	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55603512	55603512	+	Silent	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:55603512C>A	ENST00000294383.6	-	27	2993	c.2994G>T	c.(2992-2994)gtG>gtT	p.V998V	USP24_ENST00000407756.1_Silent_p.V838V	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	998					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.V915V(1)|p.V998V(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GTATATTATCCACAGGAGAGC	0.323																																						uc001cyg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(6)|kidney(6)|breast(1)	13						c.(2512-2514)GTG>GTT		ubiquitin specific protease 24							57.0	51.0	53.0					1																	55603512		1806	4076	5882	SO:0001819	synonymous_variant	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55603512C>A	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.2994G>T	1.37:g.55603512C>A							p.V838V	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			24	2514	-			998					Q6ZSY2|Q8N2Y4|Q9NXD1	Silent	SNP	ENST00000294383.6	37	c.2514G>T	CCDS44154.2																																																																																				PASS	0.323	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			4	17	4	17	---	---	---	---
ITGB3BP	23421	broad.mit.edu	37	1	63919644	63919644	+	Splice_Site	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:63919644C>T	ENST00000271002.10	-	7	510	c.429G>A	c.(427-429)atG>atA	p.M143I	ITGB3BP_ENST00000371092.3_Splice_Site_p.M182I|ITGB3BP_ENST00000461681.1_5'UTR|ITGB3BP_ENST00000283568.8_Splice_Site_p.M143I	NM_014288.4	NP_055103.3	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	143					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.M143I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						TCACTTTTGTCACTAAAAGAA	0.284																																						uc001dba.1																			1	Substitution - Missense(1)		lung(1)		0						c.(427-429)ATG>ATA		integrin beta 3 binding protein							80.0	79.0	79.0					1																	63919644		2202	4294	6496	SO:0001630	splice_region_variant	23421				apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity	g.chr1:63919644C>T	U37139	CCDS30736.1, CCDS55603.1	1p31.3	2013-11-05			ENSG00000142856	ENSG00000142856			6157	protein-coding gene	gene with protein product	"""centromere protein R"""	605494				7593198, 10490654	Standard	NM_014288		Approved	NRIF3, HSU37139, TAP20, CENPR	uc001dbb.2	Q13352	OTTHUMG00000013364	ENST00000271002.10:c.428-1G>A	1.37:g.63919644C>T						ITGB3BP_uc001dbb.1_Missense_Mutation_p.M182I|ITGB3BP_uc001dbc.1_RNA|ITGB3BP_uc001dbd.1_RNA|ITGB3BP_uc009wak.1_Missense_Mutation_p.M165I|ITGB3BP_uc001dbe.1_Missense_Mutation_p.M56I	p.M143I	NM_014288	NP_055103	Q13352	CENPR_HUMAN			7	460	-			143					B2R7D8|Q13353|Q5RJ42|Q5RJ44|Q5RJ45|Q7KYX2|Q96CD5|Q9UKB6	Missense_Mutation	SNP	ENST00000271002.10	37	c.429G>A	CCDS30736.1	.	.	.	.	.	.	.	.	.	.	C	12.59	1.984286	0.35036	.	.	ENSG00000142856	ENST00000271002;ENST00000371092;ENST00000283568	T;T;T	0.50813	0.73;0.73;0.73	4.68	4.68	0.58851	.	0.158928	0.43747	D	0.000531	T	0.28764	0.0713	L	0.61218	1.895	0.47009	D	0.999289	B;B;B;B	0.28713	0.047;0.058;0.22;0.058	B;B;B;B	0.31751	0.055;0.015;0.135;0.038	T	0.09773	-1.0659	10	0.22706	T	0.39	.	9.5431	0.39264	0.0:0.9011:0.0:0.0989	.	143;103;182;143	Q13352-2;D3DQ59;Q13352-5;Q13352	.;.;.;CENPR_HUMAN	I	143;182;143	ENSP00000271002:M143I;ENSP00000360133:M182I;ENSP00000283568:M143I	ENSP00000271002:M143I	M	-	3	0	ITGB3BP	63692232	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	3.163000	0.50763	2.541000	0.85698	0.580000	0.79431	ATG		PASS	0.284	ITGB3BP-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000037242.2	NM_014288	Missense_Mutation	26	37	26	37	---	---	---	---
LRRC8B	23507	broad.mit.edu	37	1	90049602	90049602	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:90049602C>T	ENST00000330947.2	+	5	1753	c.1393C>T	c.(1393-1395)Ctc>Ttc	p.L465F	LRRC8B_ENST00000439853.1_Missense_Mutation_p.L465F|RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.L465F	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	465					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L465F(1)|p.L465V(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GCTGGTCAACCTCAAGGAGCT	0.473																																						uc001dni.2																			2	Substitution - Missense(2)	p.L465V(1)	ovary(1)|lung(1)	ovary(2)	2						c.(1393-1395)CTC>TTC		leucine rich repeat containing 8 family, member							51.0	51.0	51.0					1																	90049602		2203	4300	6503	SO:0001583	missense	23507					integral to membrane		g.chr1:90049602C>T	AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.1393C>T	1.37:g.90049602C>T	ENSP00000332674:p.Leu465Phe					LRRC8B_uc001dnh.2_Missense_Mutation_p.L465F|LRRC8B_uc001dnj.2_Missense_Mutation_p.L465F	p.L465F	NM_001134476	NP_001127948	Q6P9F7	LRC8B_HUMAN		all cancers(265;0.00515)|Epithelial(280;0.0241)	7	1900	+		all_lung(203;0.17)	465			LRR 1.		D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	ENST00000330947.2	37	c.1393C>T	CCDS724.1	.	.	.	.	.	.	.	.	.	.	C	18.93	3.728257	0.69074	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.03413	3.94;3.94;3.94	5.3	5.3	0.74995	.	0.000000	0.64402	D	0.000004	T	0.25531	0.0621	H	0.97077	3.935	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.47368	-0.9123	10	0.87932	D	0	.	19.3297	0.94281	0.0:1.0:0.0:0.0	.	465	Q6P9F7	LRC8B_HUMAN	F	465	ENSP00000332674:L465F;ENSP00000350933:L465F;ENSP00000400704:L465F	ENSP00000332674:L465F	L	+	1	0	LRRC8B	89822190	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.764000	0.85297	2.625000	0.88918	0.655000	0.94253	CTC		PASS	0.473	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028008.1	NM_015350		48	48	48	48	---	---	---	---
PLPPR4	9890	broad.mit.edu	37	1	99753705	99753705	+	Splice_Site	SNP	C	C	G	rs145727766		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:99753705C>G	ENST00000370185.3	+	2	904	c.407C>G	c.(406-408)aCg>aGg	p.T136R	LPPR4_ENST00000457765.1_Splice_Site_p.T136R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		136					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.T136R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CCTGCAATTACGGTAAGAATT	0.413																																						uc001dse.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(406-408)ACG>AGG		plasticity related gene 1							114.0	111.0	112.0					1																	99753705		2203	4300	6503	SO:0001630	splice_region_variant	9890						phosphatidate phosphatase activity	g.chr1:99753705C>G																												ENST00000370185.3:c.408+1C>G	1.37:g.99753705C>G						LPPR4_uc010oue.1_Missense_Mutation_p.T136R	p.T136R	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	2	513	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	136			Helical; (Potential).		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	ENST00000370185.3	37	c.407C>G	CCDS757.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087956	0.94100	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178	T;T	0.16073	2.37;2.4	5.79	5.79	0.91817	.	0.858256	0.10527	N	0.664324	T	0.21145	0.0509	M	0.68593	2.085	0.58432	D	0.999999	P;P	0.43633	0.813;0.489	B;B	0.43754	0.36;0.43	T	0.10636	-1.0621	10	0.87932	D	0	-22.0035	20.0243	0.97517	0.0:1.0:0.0:0.0	.	136;136	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	R	136	ENSP00000359204:T136R;ENSP00000394913:T136R	ENSP00000263178:T136R	T	+	2	0	RP4-788L13.1	99526293	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.803000	0.85983	2.727000	0.93392	0.557000	0.71058	ACG		PASS	0.413	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2		Missense_Mutation	47	73	47	73	---	---	---	---
KCNA10	3744	broad.mit.edu	37	1	111059902	111059903	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:111059902_111059903CC>AT	ENST00000369771.2	-	1	1894_1895	c.1507_1508GG>AT	c.(1507-1509)GGc>ATc	p.G503I		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	503					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)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.G503V(1)|p.G503C(1)|p.G503I(1)|p.G503S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	TGTGGAACAGCCACCATTGGTC	0.47																																						uc001dzt.1																			4	Substitution - Missense(4)		lung(4)	ovary(3)|large_intestine(1)	4						c.(1507-1509)GGC>GTC|c.(1507-1509)GGC>AGC		potassium voltage-gated channel, shaker-related																																				SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111059902C>A|g.chr1:111059903C>T	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1507_1508delinsAT	1.37:g.111059902_111059903delinsAT	ENSP00000358786:p.Gly503Ile						p.G503V|p.G503S	NM_005549	NP_005540	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1896|1895	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	503						Missense_Mutation	SNP	ENST00000369771.2	37	c.1508G>T|c.1507G>A	CCDS826.1																																																																																				PASS	0.470	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	NM_005549		26	85	26	85	---	---	---	---
SELENBP1	8991	broad.mit.edu	37	1	151337064	151337064	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:151337064C>T	ENST00000368868.5	-	12	1465	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	SELENBP1_ENST00000426705.2_Silent_p.E500E|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000447402.3_Silent_p.E396E|SELENBP1_ENST00000435071.1_Silent_p.E394E	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	458					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)	p.E458E(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGTAGCGGAGCTCATGGGCAA	0.567																																						uc001exx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1372-1374)GAG>GAA		selenium binding protein 1							115.0	118.0	117.0					1																	151337064		2203	4300	6503	SO:0001819	synonymous_variant	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151337064C>T	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1374G>A	1.37:g.151337064C>T						SELENBP1_uc010pcy.1_Silent_p.E500E|SELENBP1_uc001exy.2_Silent_p.E355E|SELENBP1_uc001exz.2_Silent_p.E355E|SELENBP1_uc010pcz.1_Silent_p.E396E|SELENBP1_uc009wms.2_Silent_p.E294E|SELENBP1_uc009wmt.2_Silent_p.E355E|SELENBP1_uc001eya.2_Silent_p.E394E|SELENBP1_uc009wmu.2_3'UTR	p.E458E	NM_003944	NP_003935	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		12	1421	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		458					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Silent	SNP	ENST00000368868.5	37	c.1374G>A	CCDS995.1																																																																																				PASS	0.567	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			9	454	9	454	---	---	---	---
SHC1	6464	broad.mit.edu	37	1	154938440	154938440	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:154938440G>A	ENST00000368445.5	-	10	1580	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	SHC1_ENST00000368450.1_Missense_Mutation_p.R346W|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000606391.1_Missense_Mutation_p.R257W|SHC1_ENST00000368449.4_Missense_Mutation_p.R227W|SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000448116.2_Missense_Mutation_p.R457W|SHC1_ENST00000368453.4_Missense_Mutation_p.R347W	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	456	CH1.|Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R347W(1)|p.R457W(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACAGGTCCCGGGGTGCACTG	0.562																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	uc001ffv.2																			2	Substitution - Missense(2)		lung(2)	lung(1)|skin(1)	2						c.(1366-1368)CGG>TGG		SHC-transforming protein 1 isoform 1							91.0	97.0	95.0					1																	154938440		2203	4300	6503	SO:0001583	missense	6464				activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr1:154938440G>A	U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1366C>T	1.37:g.154938440G>A	ENSP00000357430:p.Arg456Trp					SHC1_uc001ffu.2_5'Flank|SHC1_uc001ffz.1_Missense_Mutation_p.R227W|SHC1_uc001ffw.2_Missense_Mutation_p.R457W|SHC1_uc001ffx.2_Missense_Mutation_p.R347W|SHC1_uc001ffy.2_Missense_Mutation_p.R346W	p.R456W	NM_183001	NP_892113	P29353	SHC1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		10	1587	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		456			Pro-rich.|CH1.		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	ENST00000368445.5	37	c.1366C>T	CCDS30881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.920|9.920	1.211823|1.211823	0.22289|0.22289	.|.	.|.	ENSG00000160691|ENSG00000160691	ENST00000444664|ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000368441	T|T;T;T;T;T	0.46063|0.50277	0.88|0.75;0.75;0.75;0.75;0.75	4.91|4.91	4.91|4.91	0.64330|0.64330	.|.	.|0.135206	.|0.45867	.|D	.|0.000324	T|T	0.25121|0.25121	0.0610|0.0610	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.24426	.|0.039;0.103;0.017	.|B;B;B	.|0.18263	.|0.004;0.021;0.006	T|T	0.15578|0.15578	-1.0432|-1.0432	7|10	0.40728|0.51188	T|T	0.16|0.08	-21.3112|-21.3112	11.3481|11.3481	0.49573|0.49573	0.0:0.0:0.6896:0.3104|0.0:0.0:0.6896:0.3104	.|.	.|235;457;456	.|Q59HB0;P29353-6;P29353	.|.;.;SHC1_HUMAN	L|W	119|456;457;257;347;346;393;128	ENSP00000396333:P119L|ENSP00000357430:R456W;ENSP00000401303:R457W;ENSP00000357434:R257W;ENSP00000357438:R347W;ENSP00000357435:R346W	ENSP00000396333:P119L|ENSP00000357426:R128W	P|R	-|-	2|1	0|2	SHC1|SHC1	153205064|153205064	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.092000|0.092000	0.18411|0.18411	2.991000|2.991000	0.49409|0.49409	2.287000|2.287000	0.76781|0.76781	0.455000|0.455000	0.32223|0.32223	CCG|CGG		PASS	0.562	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090781.2	NM_183001		10	330	10	330	---	---	---	---
CD1A	909	broad.mit.edu	37	1	158225133	158225133	+	Silent	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:158225133G>A	ENST00000289429.5	+	2	851	c.318G>A	c.(316-318)caG>caA	p.Q106Q		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	106					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)		p.Q106Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ATGAATTGCAGTTTGAATGTG	0.443																																						uc001frt.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|skin(1)	3						c.(316-318)CAG>CAA		CD1A antigen precursor	Antithymocyte globulin(DB00098)						67.0	65.0	65.0					1																	158225133		2203	4300	6503	SO:0001819	synonymous_variant	909				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		g.chr1:158225133G>A	M28825	CCDS1174.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158477	ENSG00000158477		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1634	protein-coding gene	gene with protein product		188370	"""CD1A antigen, a polypeptide"", ""CD1a antigen"""	CD1		2447586, 2784820	Standard	NM_001763		Approved		uc001frt.3	P06126	OTTHUMG00000017512	ENST00000289429.5:c.318G>A	1.37:g.158225133G>A							p.Q106Q	NM_001763	NP_001754	P06126	CD1A_HUMAN			2	851	+	all_hematologic(112;0.0378)		106			Extracellular (Potential).		D3DVD7|Q13962|Q5TDJ8|Q9UMM4|Q9Y5M5	Silent	SNP	ENST00000289429.5	37	c.318G>A	CCDS1174.1																																																																																				PASS	0.443	CD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046349.2	NM_001763		22	44	22	44	---	---	---	---
CD1E	913	broad.mit.edu	37	1	158326608	158326608	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:158326608G>C	ENST00000368167.3	+	6	1328	c.1089G>C	c.(1087-1089)caG>caC	p.Q363H	CD1E_ENST00000444681.2_Missense_Mutation_p.Q264H|CD1E_ENST00000452291.2_Missense_Mutation_p.Q174H|CD1E_ENST00000368154.1_Missense_Mutation_p.Q119H|CD1E_ENST00000368166.3_Missense_Mutation_p.Q162H|CD1E_ENST00000368155.3_Missense_Mutation_p.Q206H|CD1E_ENST00000368156.1_Missense_Mutation_p.Q261H|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368165.3_Missense_Mutation_p.Q273H|CD1E_ENST00000368157.1_Missense_Mutation_p.Q107H|CD1E_ENST00000368163.3_Missense_Mutation_p.Q296H|CD1E_ENST00000368160.3_Missense_Mutation_p.Q351H	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	363					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)	p.Q363H(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					CAAGACATCAGTTCTGCTTGG	0.433																																						uc001fse.2																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(1087-1089)CAG>CAC		CD1E antigen isoform a precursor							119.0	114.0	116.0					1																	158326608		1907	4132	6039	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158326608G>C	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.1089G>C	1.37:g.158326608G>C	ENSP00000357149:p.Gln363His					CD1E_uc001fsd.2_3'UTR|CD1E_uc001fsk.2_Missense_Mutation_p.Q273H|CD1E_uc001fsj.2_Missense_Mutation_p.Q206H|CD1E_uc001fsc.2_Missense_Mutation_p.Q174H|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.Q119H|CD1E_uc001fsf.2_Missense_Mutation_p.Q351H|CD1E_uc001fry.2_Missense_Mutation_p.Q296H|CD1E_uc001fsg.2_3'UTR|CD1E_uc001fsh.2_Missense_Mutation_p.Q162H|CD1E_uc001fsi.2_3'UTR|CD1E_uc009wsv.2_Missense_Mutation_p.Q264H|CD1E_uc001frz.2_Missense_Mutation_p.Q261H|CD1E_uc009wsw.2_Missense_Mutation_p.S78T	p.Q363H	NM_030893	NP_112155	P15812	CD1E_HUMAN			6	1328	+	all_hematologic(112;0.0378)		363					B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.1089G>C	CCDS41417.1	.	.	.	.	.	.	.	.	.	.	G	6.699	0.497699	0.12762	.	.	ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154	T;T;T;T;T;T;T;T;T;T;T	0.56103	4.99;4.45;3.14;3.14;3.3;2.77;0.48;4.51;3.27;2.95;0.49	4.88	-3.33	0.04958	.	0.899723	0.09193	N	0.835704	T	0.14313	0.0346	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.11235	0.002;0.004;0.002;0.003;0.003;0.002;0.004;0.001;0.003;0.001	B;B;B;B;B;B;B;B;B;B	0.13407	0.002;0.006;0.009;0.004;0.004;0.001;0.006;0.001;0.004;0.005	T	0.25082	-1.0142	10	0.51188	T	0.08	-0.2497	2.9755	0.05936	0.2178:0.3143:0.3633:0.1047	.	264;273;206;162;351;363;174;119;261;296	E7EP01;P15812-5;P15812-7;P15812-9;P15812-2;P15812;P15812-8;P15812-11;P15812-6;P15812-4	.;.;.;.;.;CD1E_HUMAN;.;.;.;.	H	264;363;174;273;162;296;107;351;261;206;119	ENSP00000402906:Q264H;ENSP00000357149:Q363H;ENSP00000416228:Q174H;ENSP00000357147:Q273H;ENSP00000357148:Q162H;ENSP00000357145:Q296H;ENSP00000357139:Q107H;ENSP00000357142:Q351H;ENSP00000357138:Q261H;ENSP00000357137:Q206H;ENSP00000357136:Q119H	ENSP00000357136:Q119H	Q	+	3	2	CD1E	156593232	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.172000	0.03112	-0.930000	0.03752	-0.795000	0.03280	CAG		PASS	0.433	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3	NM_030893		26	108	26	108	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158650403	158650403	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:158650403T>G	ENST00000368147.4	-	5	828	c.648A>C	c.(646-648)gaA>gaC	p.E216D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	216					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.E216D(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTGGTTCACTTCAACAACTC	0.463																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(646-648)GAA>GAC		spectrin, alpha, erythrocytic 1							152.0	151.0	151.0					1																	158650403		1932	4131	6063	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650403T>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.648A>C	1.37:g.158650403T>G	ENSP00000357129:p.Glu216Asp						p.E216D	NM_003126	NP_003117	P02549	SPTA1_HUMAN			5	847	-	all_hematologic(112;0.0378)		216			Spectrin 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.648A>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	8.687	0.906587	0.17833	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50813	0.73;0.73	5.19	4.06	0.47325	.	1.561450	0.04524	N	0.385086	T	0.23806	0.0576	L	0.43923	1.385	0.24481	N	0.99434	B	0.15141	0.012	B	0.24974	0.057	T	0.42413	-0.9453	10	0.18276	T	0.48	.	13.3637	0.60671	0.0:0.0:0.1324:0.8676	.	216	P02549	SPTA1_HUMAN	D	216	ENSP00000357130:E216D;ENSP00000357129:E216D	ENSP00000357129:E216D	E	-	3	2	SPTA1	156917027	0.996000	0.38824	0.095000	0.20976	0.330000	0.28571	2.373000	0.44266	0.428000	0.26173	-1.589000	0.00846	GAA		PASS	0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		86	70	86	70	---	---	---	---
SPTA1	6708	broad.mit.edu	37	1	158650429	158650429	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:158650429C>A	ENST00000368147.4	-	5	802	c.622G>T	c.(622-624)Gta>Tta	p.V208L		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	208					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.V208L(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCTTTAGCTACCAGCTCCACT	0.478																																						uc001fst.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(622-624)GTA>TTA		spectrin, alpha, erythrocytic 1							144.0	142.0	143.0					1																	158650429		1910	4128	6038	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158650429C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.622G>T	1.37:g.158650429C>A	ENSP00000357129:p.Val208Leu						p.V208L	NM_003126	NP_003117	P02549	SPTA1_HUMAN			5	821	-	all_hematologic(112;0.0378)		208			Spectrin 3.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.622G>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	15.12	2.738168	0.49045	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50001	0.76;0.76	5.25	2.31	0.28768	.	1.217270	0.06422	N	0.722502	T	0.13628	0.0330	N	0.24115	0.695	0.24522	N	0.994159	B	0.09022	0.002	B	0.19946	0.027	T	0.29792	-1.0000	10	0.24483	T	0.36	.	6.2971	0.21091	0.1492:0.6888:0.0:0.1621	.	208	P02549	SPTA1_HUMAN	L	208	ENSP00000357130:V208L;ENSP00000357129:V208L	ENSP00000357129:V208L	V	-	1	0	SPTA1	156917053	0.988000	0.35896	0.008000	0.14137	0.762000	0.43233	2.735000	0.47377	0.334000	0.23590	0.650000	0.86243	GTA		PASS	0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		32	130	32	130	---	---	---	---
OR6K3	391114	broad.mit.edu	37	1	158686969	158686969	+	Missense_Mutation	SNP	G	G	T	rs370459504		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:158686969G>T	ENST00000368146.1	-	1	984	c.985C>A	c.(985-987)Cct>Act	p.P329T	OR6K3_ENST00000368145.1_Missense_Mutation_p.P313T			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	329						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P329T(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					TAACCTCCAGGCTTGTTCAAC	0.408																																						uc010pip.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|central_nervous_system(1)	3						c.(985-987)CCT>ACT		olfactory receptor, family 6, subfamily K,		A	THR/PRO	0,4406		0,0,2203	114.0	118.0	116.0		937	0.6	0.0	1		116	1,8599		0,1,4299	no	missense	OR6K3	NM_001005327.2	38	0,1,6502	TT,TG,GG		0.0116,0.0,0.0077	benign	313/316	158686969	1,13005	2203	4300	6503	SO:0001583	missense	391114				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158686969G>T	AB065633	CCDS30903.1, CCDS30903.2	1q23.1	2012-08-09			ENSG00000203757	ENSG00000203757		"""GPCR / Class A : Olfactory receptors"""	15030	protein-coding gene	gene with protein product							Standard	NM_001005327		Approved		uc021pbn.1	Q8NGY3	OTTHUMG00000022770	ENST00000368146.1:c.985C>A	1.37:g.158686969G>T	ENSP00000357128:p.Pro329Thr						p.P329T	NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN			1	985	-	all_hematologic(112;0.0378)		329			Cytoplasmic (Potential).		Q5VUV0|Q6IFR5	Missense_Mutation	SNP	ENST00000368146.1	37	c.985C>A		.	.	.	.	.	.	.	.	.	.	A	3.856	-0.030920	0.07543	0.0	1.16E-4	ENSG00000203757	ENST00000368145;ENST00000368146	T;T	0.00001	9.91;9.9	3.08	0.584	0.17422	.	.	.	.	.	T	0.00012	0.0000	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.43426	-0.9392	9	0.25751	T	0.34	.	3.1783	0.06576	0.5302:0.2178:0.252:0.0	.	329	Q8NGY3	OR6K3_HUMAN	T	313;329	ENSP00000357127:P313T;ENSP00000357128:P329T	ENSP00000357127:P313T	P	-	1	0	OR6K3	156953593	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	0.250000	0.18235	-0.175000	0.10725	-0.516000	0.04426	CCT		PASS	0.408	OR6K3-201	KNOWN	basic	protein_coding	protein_coding				6	176	6	176	---	---	---	---
F5	2153	broad.mit.edu	37	1	169492482	169492482	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:169492482G>T	ENST00000367797.3	-	21	6202	c.6001C>A	c.(6001-6003)Cag>Aag	p.Q2001K	F5_ENST00000367796.3_Missense_Mutation_p.Q2006K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	2001	F5/8 type C 1. {ECO:0000255|PROSITE- ProRule:PRU00081}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.Q2001K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CAGTTGATCTGGTTGGAACTG	0.438																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(6001-6003)CAG>AAG		coagulation factor V precursor	Drotrecogin alfa(DB00055)						220.0	197.0	205.0					1																	169492482		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169492482G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.6001C>A	1.37:g.169492482G>T	ENSP00000356771:p.Gln2001Lys						p.Q2001K	NM_000130	NP_000121	P12259	FA5_HUMAN			21	6146	-	all_hematologic(923;0.208)		2001			F5/8 type C 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.6001C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	0.878	-0.729785	0.03135	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.98777	-5.13;-5.13	5.49	2.25	0.28309	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	1.685430	0.02775	N	0.120124	D	0.87107	0.6095	N	0.10809	0.05	0.26883	N	0.967506	B	0.12013	0.005	B	0.15052	0.012	D	0.88069	0.2799	9	0.05351	T	0.99	5.2015	3.6485	0.08194	0.0869:0.1089:0.3102:0.494	.	2001	P12259	FA5_HUMAN	K	2001;2006	ENSP00000356771:Q2001K;ENSP00000356770:Q2006K	ENSP00000356770:Q2006K	Q	-	1	0	F5	167759106	0.182000	0.23173	0.527000	0.27925	0.762000	0.43233	0.481000	0.22260	0.660000	0.30964	0.650000	0.86243	CAG		PASS	0.438	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		42	111	42	111	---	---	---	---
EDEM3	80267	broad.mit.edu	37	1	184718701	184718701	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:184718701G>T	ENST00000318130.8	-	2	450	c.184C>A	c.(184-186)Cat>Aat	p.H62N	EDEM3_ENST00000367512.3_Missense_Mutation_p.H19N	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	62					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.H19N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCATAAGCATGATCAAACATT	0.284																																						uc010pok.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(184-186)CAT>AAT		ER degradation enhancer, mannosidase alpha-like							64.0	57.0	60.0					1																	184718701		2196	4292	6488	SO:0001583	missense	80267				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr1:184718701G>T	AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.184C>A	1.37:g.184718701G>T	ENSP00000318147:p.His62Asn					EDEM3_uc010pol.1_RNA|EDEM3_uc010pom.1_Missense_Mutation_p.H62N|EDEM3_uc001gqy.2_Intron	p.H62N	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN			2	445	-			62					B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	ENST00000318130.8	37	c.184C>A	CCDS1363.2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.100824	0.76983	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.74526	-0.85;-0.85	5.62	5.62	0.85841	.	0.049002	0.85682	D	0.000000	D	0.91680	0.7370	H	0.98466	4.24	0.80722	D	1	D	0.56287	0.975	D	0.70227	0.968	D	0.94468	0.7682	10	0.87932	D	0	.	16.5719	0.84615	0.0:0.0:1.0:0.0	.	62	Q9BZQ6	EDEM3_HUMAN	N	62;19	ENSP00000318147:H62N;ENSP00000356482:H19N	ENSP00000318147:H62N	H	-	1	0	EDEM3	182985324	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.457000	0.66672	2.642000	0.89623	0.591000	0.81541	CAT		PASS	0.284	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		3	28	3	28	---	---	---	---
FAM129A	116496	broad.mit.edu	37	1	184764870	184764870	+	Silent	SNP	G	G	A	rs376073509		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:184764870G>A	ENST00000367511.3	-	14	2221	c.2028C>T	c.(2026-2028)ctC>ctT	p.L676L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	676					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L676L(2)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ATGTGCCCGGGAGTCCTGCTG	0.577																																						uc001gra.2																			2	Substitution - coding silent(2)		cervix(1)|lung(1)	ovary(3)|skin(1)	4						c.(2026-2028)CTC>CTT		niban protein isoform 2		G		1,4405	2.1+/-5.4	0,1,2202	64.0	55.0	58.0		2028	1.1	0.0	1		58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FAM129A	NM_052966.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		676/929	184764870	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184764870G>A	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.2028C>T	1.37:g.184764870G>A						FAM129A_uc001grb.1_Intron	p.L676L	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN			14	2222	-			676					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Silent	SNP	ENST00000367511.3	37	c.2028C>T	CCDS1364.1																																																																																				PASS	0.577	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			24	65	24	65	---	---	---	---
F13B	2165	broad.mit.edu	37	1	197009796	197009796	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:197009796C>T	ENST00000367412.1	-	11	1851	c.1808G>A	c.(1807-1809)aGa>aAa	p.R603K	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	603	Sushi 10. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)	extracellular region (GO:0005576)		p.R603K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						AATGTGTGGTCTATTGTCAAA	0.299																																						uc001gtt.1																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1807-1809)AGA>AAA		coagulation factor XIII B subunit precursor							61.0	58.0	59.0					1																	197009796		2200	4294	6494	SO:0001583	missense	2165				blood coagulation	extracellular region		g.chr1:197009796C>T	M14057	CCDS1388.1	1q31-q32.1	2012-10-02			ENSG00000143278	ENSG00000143278			3534	protein-coding gene	gene with protein product		134580				2339067, 2271707	Standard	NM_001994		Approved	FXIIIB	uc001gtt.1	P05160	OTTHUMG00000036519	ENST00000367412.1:c.1808G>A	1.37:g.197009796C>T	ENSP00000356382:p.Arg603Lys						p.R603K	NM_001994	NP_001985	P05160	F13B_HUMAN			11	1852	-			603			Sushi 10.		A8K3E5|Q5VYL5	Missense_Mutation	SNP	ENST00000367412.1	37	c.1808G>A	CCDS1388.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025038	0.35701	.	.	ENSG00000143278	ENST00000367412	T	0.80909	-1.43	5.59	5.59	0.84812	Complement control module (1);	0.000000	0.36066	N	0.002817	T	0.58235	0.2108	N	0.12887	0.27	0.32850	D	0.506587	P	0.35612	0.512	B	0.30251	0.113	T	0.63492	-0.6625	10	0.02654	T	1	.	12.1305	0.53940	0.0:0.9202:0.0:0.0798	.	603	P05160	F13B_HUMAN	K	603	ENSP00000356382:R603K	ENSP00000356382:R603K	R	-	2	0	F13B	195276419	0.969000	0.33509	0.922000	0.36590	0.946000	0.59487	1.620000	0.36976	2.783000	0.95769	0.655000	0.94253	AGA		PASS	0.299	F13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088821.2	NM_001994		10	55	10	55	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216591901	216591902	+	Missense_Mutation	DNP	TG	TG	GT			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:216591901_216591902TG>GT	ENST00000307340.3	-	3	991_992	c.605_606CA>AC	c.(604-606)aCA>aAC	p.T202N	USH2A_ENST00000366942.3_Missense_Mutation_p.T202N|USH2A_ENST00000366943.2_Missense_Mutation_p.T202N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	202					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.T202K(1)|p.T202T(1)|p.T202N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TTCTCCCCAGTGTCATTACTTT	0.342										HNSCC(13;0.011)																												uc001hku.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(604-606)ACA>ACC|c.(604-606)ACA>AAA		usherin isoform B																																				SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216591901T>G|g.chr1:216591902G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.605_606delinsGT	1.37:g.216591901_216591902delinsGT	ENSP00000305941:p.Thr202Asn	HNSCC(13;0.011)				USH2A_uc001hkv.2_Silent_p.T202T|USH2A_uc001hkv.2_Missense_Mutation_p.T202K	p.T202T|p.T202K	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	3	993|992	-			202			Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent|Missense_Mutation	SNP	ENST00000307340.3	37	c.606A>C|c.605C>A	CCDS31025.1																																																																																				PASS	0.342	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		59	87|86	59	86	---	---	---	---
HIST3H2BB	128312	broad.mit.edu	37	1	228645991	228645991	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:228645991G>A	ENST00000369160.2	+	1	184	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	54					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		skin(1)	1		Prostate(94;0.183)				CCCGACACCGGCATCTCGTCC	0.587																																						uc001hsz.2																			2	Substitution - Missense(2)		urinary_tract(1)|lung(1)	skin(1)	1						c.(160-162)GGC>GAC		histone cluster 3, H2bb							97.0	95.0	96.0					1																	228645991		2202	4278	6480	SO:0001583	missense	128312				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:228645991G>A	AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.161G>A	1.37:g.228645991G>A	ENSP00000375736:p.Gly54Asp					HIST3H2A_uc001hsy.2_5'Flank	p.G54D	NM_175055	NP_778225	Q8N257	H2B3B_HUMAN			1	184	+		Prostate(94;0.183)	54					A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	ENST00000369160.2	37	c.161G>A	CCDS1574.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.229642	0.79688	.	.	ENSG00000196890	ENST00000369160	T	0.69435	-0.4	3.94	3.94	0.45596	Histone-fold (2);Histone core (1);	0.000000	0.46758	D	0.000262	D	0.87861	0.6284	H	0.98542	4.26	0.58432	D	0.999999	D	0.58970	0.984	D	0.68483	0.958	D	0.92053	0.5650	10	0.87932	D	0	.	14.354	0.66724	0.0:0.0:1.0:0.0	.	54	Q8N257	H2B3B_HUMAN	D	54	ENSP00000375736:G54D	ENSP00000375736:G54D	G	+	2	0	HIST3H2BB	226712614	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.022000	0.76431	2.491000	0.84063	0.586000	0.80456	GGC		PASS	0.587	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096597.1	NM_175055		4	198	4	198	---	---	---	---
ACTN2	88	broad.mit.edu	37	1	236925903	236925903	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:236925903G>T	ENST00000366578.4	+	21	2835	c.2669G>T	c.(2668-2670)gGg>gTg	p.G890V	ACTN2_ENST00000542672.1_Missense_Mutation_p.G890V|ACTN2_ENST00000546208.1_Missense_Mutation_p.G384V	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	890					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.G890V(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCACTCTACGGGGAGAGCGAT	0.527																																						uc001hyf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(1)	5						c.(2668-2670)GGG>GTG		actinin, alpha 2							54.0	44.0	48.0					1																	236925903		2203	4300	6503	SO:0001583	missense	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236925903G>T	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2669G>T	1.37:g.236925903G>T	ENSP00000355537:p.Gly890Val					ACTN2_uc001hyg.2_Missense_Mutation_p.G682V|ACTN2_uc009xgi.1_Missense_Mutation_p.G890V|ACTN2_uc010pxu.1_Missense_Mutation_p.G579V|ACTN2_uc001hyh.2_Missense_Mutation_p.G578V	p.G890V	NM_001103	NP_001094	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		21	2873	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	890					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	c.2669G>T	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729384	0.69074	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.46819	0.86;0.86;0.86	5.42	5.42	0.78866	EF-hand, Ca insensitive (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71668	0.3367	M	0.79343	2.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;1.0	T	0.74512	-0.3641	10	0.87932	D	0	.	19.597	0.95544	0.0:0.0:1.0:0.0	.	675;890;660;890	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	V	890;890;384;659	ENSP00000443495:G890V;ENSP00000355537:G890V;ENSP00000438384:G384V	ENSP00000355537:G890V	G	+	2	0	ACTN2	234992526	1.000000	0.71417	0.830000	0.32933	0.220000	0.24768	9.680000	0.98651	2.716000	0.92895	0.650000	0.86243	GGG		PASS	0.527	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		43	37	43	37	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978180	247978180	+	Silent	SNP	G	G	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr1:247978180G>C	ENST00000357627.1	-	1	851	c.852C>G	c.(850-852)ccC>ccG	p.P284P		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284P(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGTATATAATGGGATTAAAGG	0.408																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(850-852)CCC>CCG		olfactory receptor, family 14, subfamily A,							62.0	61.0	61.0					1																	247978180		2203	4300	6503	SO:0001819	synonymous_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978180G>C	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.852C>G	1.37:g.247978180G>C							p.P284P	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	852	-			284			Helical; Name=7; (Potential).		Q6IF96	Silent	SNP	ENST00000357627.1	37	c.852C>G	CCDS31097.1																																																																																				PASS	0.408	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		43	52	43	52	---	---	---	---
BIRC6	57448	broad.mit.edu	37	2	32738147	32738147	+	Silent	SNP	A	A	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:32738147A>G	ENST00000421745.2	+	54	10628	c.10494A>G	c.(10492-10494)gcA>gcG	p.A3498A		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3498					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.A3470A(1)|p.A3498A(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTGTGTAGCAGCCATTCTGT	0.423																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10492-10494)GCA>GCG		baculoviral IAP repeat-containing 6							150.0	122.0	132.0					2																	32738147		2203	4300	6503	SO:0001819	synonymous_variant	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32738147A>G	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10494A>G	2.37:g.32738147A>G							p.A3498A	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			54	10628	+	Acute lymphoblastic leukemia(172;0.155)		3498					Q9ULD1	Silent	SNP	ENST00000421745.2	37	c.10494A>G	CCDS33175.2																																																																																				PASS	0.423	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		30	79	30	79	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49190942	49190942	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:49190942C>T	ENST00000406846.2	-	10	1137	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	FSHR_ENST00000346173.3_Missense_Mutation_p.E278K|FSHR_ENST00000304421.4_Missense_Mutation_p.E314K|FSHR_ENST00000541117.1_Missense_Mutation_p.E76K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	340					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.E340K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	TCAACCACTTCATTGCATAAG	0.473									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(1018-1020)GAA>AAA		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						306.0	258.0	274.0					2																	49190942		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190942C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1018G>A	2.37:g.49190942C>T	ENSP00000384708:p.Glu340Lys					FSHR_uc002rwx.2_Missense_Mutation_p.E278K|FSHR_uc010fbn.2_Missense_Mutation_p.E314K	p.E340K	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1092	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	340			Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1018G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385245	0.61956	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117;ENST00000454032	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.33	5.33	0.75918	Gonadotropin hormone receptor, transmembrane domain (1);	0.170776	0.52532	D	0.000068	T	0.80177	0.4575	M	0.64567	1.98	0.58432	D	0.999997	D;D;D	0.76494	0.993;0.999;0.993	D;D;D	0.83275	0.935;0.996;0.935	T	0.78443	-0.2202	9	.	.	.	.	18.1871	0.89796	0.0:1.0:0.0:0.0	.	314;278;340	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	K	340;278;314;76;278	ENSP00000384708:E340K;ENSP00000333908:E278K;ENSP00000306780:E314K;ENSP00000444172:E76K;ENSP00000415504:E278K	.	E	-	1	0	FSHR	49044446	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.509000	0.60448	2.779000	0.95612	0.561000	0.74099	GAA		PASS	0.473	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			59	159	59	159	---	---	---	---
LRRTM4	80059	broad.mit.edu	37	2	77745749	77745749	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:77745749C>A	ENST00000409093.1	-	3	1582	c.1246G>T	c.(1246-1248)Gag>Tag	p.E416*	LRRTM4_ENST00000409911.1_Nonsense_Mutation_p.E417*|LRRTM4_ENST00000409282.1_Nonsense_Mutation_p.E417*|LRRTM4_ENST00000409884.1_Nonsense_Mutation_p.E416*|LRRTM4_ENST00000409088.3_Nonsense_Mutation_p.E416*			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	416					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.E416*(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGCTCATACTCTTGCTCTGCG	0.478																																						uc002snr.2																			2	Substitution - Nonsense(2)		lung(2)	pancreas(3)|ovary(1)	4						c.(1246-1248)GAG>TAG		leucine rich repeat transmembrane neuronal 4							105.0	105.0	105.0					2																	77745749		1921	4134	6055	SO:0001587	stop_gained	80059					integral to membrane		g.chr2:77745749C>A	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1246G>T	2.37:g.77745749C>A	ENSP00000386357:p.Glu416*					LRRTM4_uc002snq.2_Nonsense_Mutation_p.E416*|LRRTM4_uc002sns.2_Nonsense_Mutation_p.E416*|LRRTM4_uc002snt.2_Nonsense_Mutation_p.E417*	p.E416*	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN		Colorectal(11;0.059)	3	1661	-			416			Extracellular (Potential).		Q4FZ98|Q6UXJ7	Nonsense_Mutation	SNP	ENST00000409093.1	37	c.1246G>T	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	C	40	8.128033	0.98667	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	.	.	.	5.68	5.68	0.88126	.	0.098869	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	.	18.3564	0.90358	0.0:1.0:0.0:0.0	.	.	.	.	X	417;416;416;416;417	.	ENSP00000386236:E416X	E	-	1	0	LRRTM4	77599257	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.670000	0.90874	0.655000	0.94253	GAG		PASS	0.478	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		22	79	22	79	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90260098	90260098	+	RNA	SNP	G	G	C	rs547296809	byFrequency	TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:90260098G>C	ENST00000471857.1	+	0	382									immunoglobulin kappa variable 1D-8																		AAGCCCCTGAGCTCCTGATCT	0.507																																						uc010fhm.2																			0													Parts of antibodies, mostly variable regions.							130.0	133.0	132.0					2																	90260098		1885	4113	5998			0							g.chr2:90260098G>C	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90260098G>C														30		+									RNA	SNP	ENST00000471857.1	37	c.4081G>C																																																																																					PASS	0.507	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		8	154	8	154	---	---	---	---
STEAP3	55240	broad.mit.edu	37	2	120012355	120012355	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:120012355C>T	ENST00000354888.5	+	5	1620	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	STEAP3_ENST00000393107.2_Silent_p.S372S|STEAP3_ENST00000409811.1_Silent_p.S372S|STEAP3_ENST00000450943.2_Silent_p.S372S|STEAP3_ENST00000425223.2_Silent_p.S372S|STEAP3_ENST00000393106.2_Silent_p.S372S|STEAP3_ENST00000393110.2_Silent_p.S382S|STEAP3_ENST00000393108.2_Silent_p.S372S	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	372	Ferric oxidoreductase.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cellular iron ion homeostasis (GO:0006879)|copper ion import (GO:0015677)|exosomal secretion (GO:1990182)|ferric iron import into cell (GO:0097461)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|protein secretion (GO:0009306)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)	p.S372S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						GCACGTTGTCCCTGCTGGCCG	0.592																																						uc002tlp.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|skin(1)	3						c.(1114-1116)TCC>TCT		dudulin 2 isoform b							114.0	98.0	103.0					2																	120012355		2203	4300	6503	SO:0001819	synonymous_variant	55240				apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr2:120012355C>T	AY029585	CCDS2125.1, CCDS42738.1	2q14.2	2011-09-30	2011-09-30		ENSG00000115107	ENSG00000115107			24592	protein-coding gene	gene with protein product		609671				12606722	Standard	NM_182915		Approved	TSAP6, dudlin-2, STMP3	uc002tlr.3	Q658P3	OTTHUMG00000131402	ENST00000354888.5:c.1116C>T	2.37:g.120012355C>T						STEAP3_uc002tlq.2_Silent_p.S382S|STEAP3_uc002tlr.2_Silent_p.S372S|STEAP3_uc010fle.2_Silent_p.S372S	p.S372S	NM_018234	NP_060704	Q658P3	STEA3_HUMAN			5	1273	+			372			Ferric oxidoreductase.|Helical; (Potential).		A8K6E3|Q4VBR2|Q4ZG36|Q53SQ8|Q7Z389|Q86SF6|Q8NEW6|Q8TDP3|Q8TF03|Q9NVB5	Silent	SNP	ENST00000354888.5	37	c.1116C>T	CCDS2125.1																																																																																				PASS	0.592	STEAP3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254193.1	NM_018234		38	35	38	35	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136570431	136570431	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:136570431C>T	ENST00000264162.2	-	7	1813	c.1803G>A	c.(1801-1803)ctG>ctA	p.L601L	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	601	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.L601L(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	AGTCTGAGTTCAGCACAATGC	0.592																																						uc002tuu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(1801-1803)CTG>CTA		lactase-phlorizin hydrolase preproprotein							67.0	58.0	61.0					2																	136570431		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136570431C>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1803G>A	2.37:g.136570431C>T							p.L601L	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	1814	-			601			Extracellular (Potential).|4 X approximate repeats.|2.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.1803G>A	CCDS2178.1																																																																																				PASS	0.592	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		15	60	15	60	---	---	---	---
CHRNA1	1134	broad.mit.edu	37	2	175619132	175619132	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:175619132C>T	ENST00000261007.5	-	6	496	c.430G>A	c.(430-432)Gac>Aac	p.D144N	CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Missense_Mutation_p.D119N|CHRNA1_ENST00000348749.5_Missense_Mutation_p.D119N|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409323.1_Missense_Mutation_p.D119N	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	144					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)	p.D144N(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	ATAGCAAAGTCACCATCTGCA	0.463																																						uc002ujd.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(430-432)GAC>AAC		nicotinic cholinergic receptor alpha 1 isoform a							109.0	95.0	100.0					2																	175619132		2203	4300	6503	SO:0001583	missense	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175619132C>T	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.430G>A	2.37:g.175619132C>T	ENSP00000261007:p.Asp144Asn					uc002uiw.2_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.D119N|CHRNA1_uc002ujf.3_Missense_Mutation_p.D119N	p.D144N	NM_001039523	NP_001034612	P02708	ACHA_HUMAN			6	508	-			144			Extracellular.		B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	c.430G>A	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560863	0.86335	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409219;ENST00000409323	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.87	5.87	0.94306	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.79009	0.4374	N	0.20766	0.605	0.80722	D	1	P;D;D	0.89917	0.907;1.0;0.989	P;D;D	0.85130	0.465;0.997;0.964	T	0.69209	-0.5205	10	0.02654	T	1	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	119;119;144	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	N	119;144;119;119	ENSP00000261008:D119N;ENSP00000261007:D144N;ENSP00000386611:D119N;ENSP00000386684:D119N	ENSP00000261007:D144N	D	-	1	0	CHRNA1	175327378	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.463	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1			34	31	34	31	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H|NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		15	Substitution - Missense(15)		lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)	central_nervous_system(1)	1						c.(85-87)GAT>CAT		nuclear factor erythroid 2-like 2 isoform 1							66.0	59.0	61.0					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098960C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>C	2.37:g.178098960C>G	ENSP00000380252:p.Asp29His	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.D13H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D13H|NFE2L2_uc002uli.3_Missense_Mutation_p.D13H|NFE2L2_uc010fra.2_Missense_Mutation_p.D13H|NFE2L2_uc010frb.2_Missense_Mutation_p.D13H	p.D29H	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	640	-			29					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.85G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072800	0.76415	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	13;29;13;13;13;13;13	ENSP00000380253:D13H;ENSP00000380252:D29H;ENSP00000411575:D13H;ENSP00000391590:D13H;ENSP00000400073:D13H;ENSP00000412191:D13H;ENSP00000410015:D13H	ENSP00000380252:D29H	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT		PASS	0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		40	34	40	34	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179498792	179498792	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:179498792A>T	ENST00000591111.1	-	181	37735	c.37511T>A	c.(37510-37512)aTg>aAg	p.M12504K	TTN_ENST00000359218.5_Missense_Mutation_p.M5205K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.M5080K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.M5272K|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M14145K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M11577K			Q8WZ42	TITIN_HUMAN	titin	12504	Ig-like 83.				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.M11577K(2)|p.M5272K(1)|p.M5080K(1)|p.M5205K(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)			AAGAGGTGACATGAATTTCAG	0.353																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(34729-34731)ATG>AAG		titin isoform N2-A							86.0	80.0	82.0					2																	179498792		1866	4097	5963	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179498792A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37511T>A	2.37:g.179498792A>T	ENSP00000465570:p.Met12504Lys					TTN_uc010zfh.1_Missense_Mutation_p.M5272K|TTN_uc010zfi.1_Missense_Mutation_p.M5205K|TTN_uc010zfj.1_Missense_Mutation_p.M5080K	p.M11577K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		180	34954	-			12504					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.34730T>A		.	.	.	.	.	.	.	.	.	.	A	12.60	1.986703	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36220	0.0959	L	0.27053	0.805	0.37905	D	0.931164	B;B;B;B	0.18461	0.028;0.028;0.028;0.028	B;B;B;B	0.25405	0.032;0.032;0.06;0.06	T	0.30357	-0.9981	9	0.87932	D	0	.	16.4025	0.83647	1.0:0.0:0.0:0.0	.	5080;5205;5272;12504	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	11577;5080;5272;5205;5080	ENSP00000343764:M11577K;ENSP00000434586:M5080K;ENSP00000340554:M5272K;ENSP00000352154:M5205K	ENSP00000340554:M5272K	M	-	2	0	TTN	179207037	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	9.277000	0.95755	2.268000	0.75426	0.533000	0.62120	ATG		PASS	0.353	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	92	21	92	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179501193	179501193	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:179501193C>T	ENST00000591111.1	-	175	36562	c.36338G>A	c.(36337-36339)gGt>gAt	p.G12113D	TTN_ENST00000359218.5_Missense_Mutation_p.G4814D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G4689D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G4881D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.G13754D|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G11186D			Q8WZ42	TITIN_HUMAN	titin	12113	Ig-like 80.				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.G11186D(2)|p.G4814D(1)|p.G4881D(1)|p.G4689D(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)			GGTGTATTCACCAGCATCGGA	0.398																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(33556-33558)GGT>GAT		titin isoform N2-A							79.0	74.0	76.0					2																	179501193		1842	4103	5945	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179501193C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.36338G>A	2.37:g.179501193C>T	ENSP00000465570:p.Gly12113Asp					TTN_uc010zfh.1_Missense_Mutation_p.G4881D|TTN_uc010zfi.1_Missense_Mutation_p.G4814D|TTN_uc010zfj.1_Missense_Mutation_p.G4689D|TTN_uc010fre.1_Missense_Mutation_p.G1047D	p.G11186D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		174	33781	-			12113					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.33557G>A		.	.	.	.	.	.	.	.	.	.	C	15.67	2.902108	0.52227	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90872	0.7132	M	0.90425	3.115	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.92000	0.5610	9	0.87932	D	0	.	19.9446	0.97177	0.0:1.0:0.0:0.0	.	4689;4814;4881;12113	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	11186;4689;4881;4814;4689	ENSP00000343764:G11186D;ENSP00000434586:G4689D;ENSP00000340554:G4881D;ENSP00000352154:G4814D	ENSP00000340554:G4881D	G	-	2	0	TTN	179209438	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.768000	0.85345	2.714000	0.92807	0.644000	0.83932	GGT		PASS	0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		18	64	18	64	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179526556	179526556	+	Intron	SNP	G	G	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:179526556G>C	ENST00000591111.1	-	154	34489				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.P12405P|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACTTCTTTGGGAGCCTCTG	0.413																																						uc010zfk.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(1489-1491)CCC>CCG		SubName: Full=Titin; Flags: Fragment;							83.0	86.0	85.0					2																	179526556		869	1990	2859	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179526556G>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-3035C>G	2.37:g.179526556G>C						TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron	p.P497P			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		23	2039	-			11734					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.1491C>G																																																																																					PASS	0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	36	29	36	---	---	---	---
SATB2	23314	broad.mit.edu	37	2	200193544	200193544	+	Silent	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:200193544G>A	ENST00000417098.1	-	8	2079	c.1263C>T	c.(1261-1263)ttC>ttT	p.F421F	SATB2_ENST00000260926.5_Silent_p.F421F|SATB2_ENST00000443023.1_Silent_p.F362F|SATB2_ENST00000457245.1_Silent_p.F421F|SATB2_ENST00000428695.1_Silent_p.F303F|RP11-486F17.1_ENST00000489557.2_RNA	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	421					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)	p.F421F(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GCAGATTGAGGAAATTCTGCA	0.517																																					Colon(30;262 767 11040 24421 36230)	uc002uuy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1261-1263)TTC>TTT		SATB homeobox 2							112.0	100.0	104.0					2																	200193544		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200193544G>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.1263C>T	2.37:g.200193544G>A						SATB2_uc010fsq.1_Silent_p.F303F|SATB2_uc002uuz.1_Silent_p.F421F|SATB2_uc002uva.1_Silent_p.F421F	p.F421F	NM_015265	NP_056080	Q9UPW6	SATB2_HUMAN			8	2080	-			421			CUT 1.		A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.1263C>T	CCDS2327.1																																																																																				PASS	0.517	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	NM_015265		16	70	16	70	---	---	---	---
TRAK2	66008	broad.mit.edu	37	2	202254569	202254569	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:202254569C>A	ENST00000332624.3	-	11	1576	c.1148G>T	c.(1147-1149)cGt>cTt	p.R383L		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	383	Interaction with HGS. {ECO:0000250}.				protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GABA receptor binding (GO:0050811)|receptor binding (GO:0005102)	p.R383L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CAGCTTTTTACGCATAGTCCC	0.348																																						uc002uyb.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1147-1149)CGT>CTT		trafficking protein, kinesin binding 2							147.0	159.0	155.0					2																	202254569		2203	4300	6503	SO:0001583	missense	66008					early endosome|plasma membrane	GABA receptor binding	g.chr2:202254569C>A	AB038951	CCDS2347.1	2q33.1	2012-03-05	2005-12-13	2005-12-13	ENSG00000115993	ENSG00000115993			13206	protein-coding gene	gene with protein product	"""gamma-aminobutyric acid(A) receptor-interacting factor"", ""milton homolog 2 (Drosophila)"", ""O-linked N-acetylglucosamine transferase interacting protein 98"""	607334	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 3"""	ALS2CR3		11161814, 16380713, 20230862	Standard	NM_015049		Approved	CALS-C, KIAA0549, GRIF-1, OIP98, MILT2	uc002uyb.4	O60296	OTTHUMG00000132822	ENST00000332624.3:c.1148G>T	2.37:g.202254569C>A	ENSP00000328875:p.Arg383Leu						p.R383L	NM_015049	NP_055864	O60296	TRAK2_HUMAN			11	1594	-			383	Missing (in Ref. 2).		Interaction with HGS (By similarity).		E7EV21|Q8WVH7|Q96NS2|Q9C0K5|Q9C0K6	Missense_Mutation	SNP	ENST00000332624.3	37	c.1148G>T	CCDS2347.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.075780	0.76415	.	.	ENSG00000115993	ENST00000332624;ENST00000542292	T	0.09723	2.95	5.9	5.02	0.67125	.	0.132790	0.49305	D	0.000158	T	0.15696	0.0378	M	0.79123	2.44	0.80722	D	1	P	0.48016	0.904	B	0.37833	0.259	T	0.06391	-1.0829	10	0.37606	T	0.19	.	15.2561	0.73585	0.0:0.9329:0.0:0.0671	.	383	O60296	TRAK2_HUMAN	L	383;289	ENSP00000328875:R383L	ENSP00000328875:R383L	R	-	2	0	TRAK2	201962814	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.724000	0.61972	1.496000	0.48567	0.650000	0.86243	CGT		PASS	0.348	TRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256284.3	NM_015049		44	187	44	187	---	---	---	---
INO80D	54891	broad.mit.edu	37	2	206869731	206869731	+	Silent	SNP	T	T	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:206869731T>C	ENST00000403263.1	-	11	2849	c.2445A>G	c.(2443-2445)caA>caG	p.Q815Q	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	815					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q710Q(1)|p.Q815Q(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CACTGCTGTATTGCTGTCGTG	0.537																																						uc002vaz.3																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(2443-2445)CAA>CAG		INO80 complex subunit D							292.0	278.0	283.0					2																	206869731		2149	4263	6412	SO:0001819	synonymous_variant	54891				DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:206869731T>C		CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2445A>G	2.37:g.206869731T>C							p.Q815Q	NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN			11	2850	-			815					B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	c.2445A>G	CCDS46500.1																																																																																				PASS	0.537	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		66	261	66	261	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207172252	207172252	+	Silent	SNP	A	A	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:207172252A>C	ENST00000374423.3	+	5	3386	c.3000A>C	c.(2998-3000)acA>acC	p.T1000T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1000							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.T1000T(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTTCAAAAACAAGTTTAGATT	0.358																																						uc002vbp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)	3						c.(2998-3000)ACA>ACC		zinc finger, DBF-type containing 2							83.0	82.0	83.0					2																	207172252		1867	4092	5959	SO:0001819	synonymous_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207172252A>C	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.3000A>C	2.37:g.207172252A>C							p.T1000T	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	3250	+			1000					Q6ZNP7|Q6ZSN8	Silent	SNP	ENST00000374423.3	37	c.3000A>C	CCDS46501.1																																																																																				PASS	0.358	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		21	80	21	80	---	---	---	---
UGT1A5	54579	broad.mit.edu	37	2	234622111	234622111	+	Silent	SNP	G	G	A	rs147117995	byFrequency	TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr2:234622111G>A	ENST00000373414.3	+	1	474	c.474G>A	c.(472-474)gcG>gcA	p.A158A	UGT1A1_ENST00000608381.1_Silent_p.A158A|UGT1A7_ENST00000373426.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron			P35504	UD15_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A5	158			A -> G (in dbSNP:rs12475068).			endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.A158A(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		ACCTCTGCGCGGCGGTGCTGG	0.493																																						uc002vuw.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(472-474)GCG>GCA		UDP glycosyltransferase 1 family, polypeptide A5		G	,,,,,,	5,4401	9.9+/-24.2	0,5,2198	188.0	184.0	186.0		,,,,474,,	-2.4	0.0	2	dbSNP_134	186	0,8600		0,0,4300	yes	intron,intron,intron,intron,coding-synonymous,intron,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9	NM_001072.3,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_021027.2,NM_205862.1	,,,,,,	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	,,,,,,	,,,,158/535,,	234622111	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234622111G>A	M84129	CCDS33404.1	2q37	2010-03-05	2005-07-20		ENSG00000240224	ENSG00000240224		"""UDP glucuronosyltransferases"""	12537	other	complex locus constituent		606430	"""UDP glycosyltransferase 1 family, polypeptide A5"""			9295054, 1339448	Standard	NM_019078		Approved	UGT1E		P35504	OTTHUMG00000059120	ENST00000373414.3:c.474G>A	2.37:g.234622111G>A						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.A158A	p.A158A	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	1	474	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	158					B8K294	Silent	SNP	ENST00000373414.3	37	c.474G>A	CCDS33404.1																																																																																				PASS	0.493	UGT1A5-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130985.1	NM_019078		4	225	4	225	---	---	---	---
CNTN3	5067	broad.mit.edu	37	3	74385786	74385786	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:74385786C>G	ENST00000263665.6	-	11	1415	c.1388G>C	c.(1387-1389)gGa>gCa	p.G463A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	463	Ig-like C2-type 5.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G463A(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TATTTTGAGTCCTCCATCGTT	0.323																																						uc003dpm.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)|skin(1)	5						c.(1387-1389)GGA>GCA		contactin 3 precursor							99.0	85.0	90.0					3																	74385786		2203	4299	6502	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74385786C>G	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.1388G>C	3.37:g.74385786C>G	ENSP00000263665:p.Gly463Ala						p.G463A	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	11	1468	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	463			Ig-like C2-type 5.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.1388G>C	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729280	0.30684	.	.	ENSG00000113805	ENST00000263665	T	0.65916	-0.18	4.8	3.91	0.45181	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.128586	0.53938	D	0.000049	T	0.35998	0.0951	N	0.03948	-0.315	0.36549	D	0.871747	B	0.06786	0.001	B	0.08055	0.003	T	0.42413	-0.9453	10	0.72032	D	0.01	.	8.6111	0.33804	0.0:0.7648:0.154:0.0812	.	463	Q9P232	CNTN3_HUMAN	A	463	ENSP00000263665:G463A	ENSP00000263665:G463A	G	-	2	0	CNTN3	74468476	0.063000	0.20901	0.980000	0.43619	0.755000	0.42902	0.367000	0.20382	2.382000	0.81193	0.557000	0.71058	GGA		PASS	0.323	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872		20	40	20	40	---	---	---	---
PROS1	5627	broad.mit.edu	37	3	93624922	93624922	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:93624922T>C	ENST00000394236.3	-	5	728	c.412A>G	c.(412-414)Aaa>Gaa	p.K138E	PROS1_ENST00000407433.1_Missense_Mutation_p.K7E	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	138	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)	p.K138E(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AAAGAAGCTTTTCCATCTTTG	0.418																																						uc003drb.3																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(412-414)AAA>GAA		protein S, alpha preproprotein	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)						114.0	121.0	119.0					3																	93624922		2203	4300	6503	SO:0001583	missense	5627				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	g.chr3:93624922T>C		CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.412A>G	3.37:g.93624922T>C	ENSP00000377783:p.Lys138Glu					PROS1_uc010hoo.2_Missense_Mutation_p.K7E|PROS1_uc003dqz.3_Missense_Mutation_p.K7E	p.K138E	NM_000313	NP_000304	P07225	PROS_HUMAN			5	753	-			138			EGF-like 1.		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	ENST00000394236.3	37	c.412A>G	CCDS2923.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.766250	0.31228	.	.	ENSG00000184500	ENST00000394236;ENST00000407433;ENST00000348974;ENST00000472684	D;D;D;D	0.91945	-2.94;-2.21;-2.94;-2.02	4.44	3.55	0.40652	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.362874	0.29100	N	0.013147	D	0.82646	0.5082	N	0.08118	0	0.25312	N	0.989197	B	0.22604	0.072	B	0.26202	0.067	T	0.72134	-0.4382	10	0.33940	T	0.23	.	11.6614	0.51349	0.0:0.0:0.6639:0.3361	.	138	P07225	PROS_HUMAN	E	138;7;170;7	ENSP00000377783:K138E;ENSP00000385794:K7E;ENSP00000330021:K170E;ENSP00000419616:K7E	ENSP00000330021:K170E	K	-	1	0	PROS1	95107612	1.000000	0.71417	0.995000	0.50966	0.529000	0.34654	2.352000	0.44080	1.068000	0.40764	-0.636000	0.03981	AAA		PASS	0.418	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317762.1	NM_000313		51	369	51	369	---	---	---	---
PLA1A	51365	broad.mit.edu	37	3	119347676	119347676	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:119347676G>A	ENST00000273371.4	+	10	1322	c.1250G>A	c.(1249-1251)gGg>gAg	p.G417E	PLA1A_ENST00000495992.1_Missense_Mutation_p.G401E|PLA1A_ENST00000494440.1_Missense_Mutation_p.G401E|PLA1A_ENST00000488919.1_Missense_Mutation_p.G244E	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	417	Involved in the recognition of diacyl- phospholipids.				lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)	p.G417E(1)		NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACCATTATTGGGAAGTTCTGC	0.463																																						uc003ecu.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(1249-1251)GGG>GAG		phospholipase A1 member A precursor							124.0	122.0	123.0					3																	119347676		2203	4300	6503	SO:0001583	missense	51365				lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity	g.chr3:119347676G>A	AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.1250G>A	3.37:g.119347676G>A	ENSP00000273371:p.Gly417Glu					PLA1A_uc003ecv.2_Missense_Mutation_p.G401E|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.G244E	p.G417E	NM_015900	NP_056984	Q53H76	PLA1A_HUMAN			10	1289	+			417			Involved in the recognition of diacyl- phospholipids.		B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	c.1250G>A	CCDS2991.1	.	.	.	.	.	.	.	.	.	.	G	11.65	1.701378	0.30142	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440	D;D;D;D	0.92752	-2.51;-3.1;-2.5;-2.61	5.06	4.12	0.48240	.	0.173042	0.51477	D	0.000086	D	0.90584	0.7048	L	0.34521	1.04	0.21220	N	0.999759	D;D	0.63046	0.992;0.986	P;P	0.55923	0.787;0.617	T	0.82784	-0.0286	10	0.30078	T	0.28	-16.6079	11.8608	0.52465	0.0:0.0:0.8255:0.1745	.	401;417	Q53H76-3;Q53H76	.;PLA1A_HUMAN	E	417;244;401;401	ENSP00000273371:G417E;ENSP00000420625:G244E;ENSP00000417326:G401E;ENSP00000418793:G401E	ENSP00000273371:G417E	G	+	2	0	PLA1A	120830366	0.998000	0.40836	0.151000	0.22473	0.033000	0.12548	3.714000	0.54889	2.521000	0.84997	0.561000	0.74099	GGG		PASS	0.463	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2			31	226	31	226	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129547121	129547121	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:129547121A>G	ENST00000393238.3	-	3	441	c.101T>C	c.(100-102)tTg>tCg	p.L34S	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	34						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.L34S(2)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CATTTTAGACAATTTTTGTTC	0.483																																						uc003emz.3																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(100-102)TTG>TCG		transmembrane and coiled-coil domain family 1							76.0	75.0	75.0					3																	129547121		2203	4300	6503	SO:0001583	missense	23023					integral to membrane		g.chr3:129547121A>G	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.101T>C	3.37:g.129547121A>G	ENSP00000376930:p.Leu34Ser					TMCC1_uc010htg.2_Intron	p.L34S	NM_001017395	NP_001017395	O94876	TMCC1_HUMAN			4	602	-			34					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Missense_Mutation	SNP	ENST00000393238.3	37	c.101T>C	CCDS33855.1	.	.	.	.	.	.	.	.	.	.	A	14.91	2.677222	0.47886	.	.	ENSG00000172765	ENST00000393238	T	0.41065	1.01	5.36	5.36	0.76844	.	0.180091	0.36893	N	0.002352	T	0.31167	0.0788	L	0.34521	1.04	0.80722	D	1	P	0.37061	0.58	B	0.34536	0.185	T	0.20974	-1.0259	10	0.87932	D	0	-8.2453	10.1112	0.42563	0.9246:0.0:0.0754:0.0	.	34	O94876	TMCC1_HUMAN	S	34	ENSP00000376930:L34S	ENSP00000376930:L34S	L	-	2	0	TMCC1	131029811	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.114000	0.77103	2.171000	0.68590	0.397000	0.26171	TTG		PASS	0.483	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		70	294	70	294	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134670776	134670776	+	Silent	SNP	A	A	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:134670776A>G	ENST00000398015.3	+	3	1057	c.687A>G	c.(685-687)gcA>gcG	p.A229A	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	229	Cys-rich.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)	p.A229A(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCCCCAACGCAGAGGAAGTGG	0.547																																						uc003eqt.2																			2	Substitution - coding silent(2)		lung(2)	lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1)	30						c.(685-687)GCA>GCG		ephrin receptor EphB1 precursor							173.0	170.0	171.0					3																	134670776		2082	4226	6308	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134670776A>G	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.687A>G	3.37:g.134670776A>G						EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Intron	p.A229A	NM_004441	NP_004432	P54762	EPHB1_HUMAN			3	907	+			229			Extracellular (Potential).|Cys-rich.		A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.687A>G	CCDS46921.1																																																																																				PASS	0.547	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		393	218	393	218	---	---	---	---
IL20RB	53833	broad.mit.edu	37	3	136710897	136710897	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:136710897G>A	ENST00000329582.4	+	5	898	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	IL20RB_ENST00000309741.5_Intron	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta	217	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				homeostasis of number of cells within a tissue (GO:0048873)|immune response-inhibiting signal transduction (GO:0002765)|inflammatory response to antigenic stimulus (GO:0002437)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of type IV hypersensitivity (GO:0001808)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-4 production (GO:0032753)	integral component of membrane (GO:0016021)		p.A217T(2)		kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAGGTACAGCGCCTTCAGCCA	0.572																																						uc003eri.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(649-651)GCC>ACC		interleukin 20 receptor beta precursor							125.0	112.0	116.0					3																	136710897		2203	4300	6503	SO:0001583	missense	53833					integral to membrane	receptor activity	g.chr3:136710897G>A	BC033292	CCDS3093.1	3q22.3	2013-02-11			ENSG00000174564	ENSG00000174564		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	6004	protein-coding gene	gene with protein product		605621	"""fibronectin type III domain containing 6"""	FNDC6		11163236, 16703417	Standard	NM_144717		Approved	DIRS1, IL-20R2, MGC34923	uc003eri.2	Q6UXL0	OTTHUMG00000159779	ENST00000329582.4:c.649G>A	3.37:g.136710897G>A	ENSP00000328133:p.Ala217Thr					IL20RB_uc003erj.1_Intron|IL20RB_uc010hud.1_Missense_Mutation_p.A75T	p.A217T	NM_144717	NP_653318	Q6UXL0	I20RB_HUMAN			5	898	+			217			Extracellular (Potential).|Fibronectin type-III 2.		B4DL40|Q6P438|Q8IYY5|Q8TAJ7	Missense_Mutation	SNP	ENST00000329582.4	37	c.649G>A	CCDS3093.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.537280	0.27475	.	.	ENSG00000174564	ENST00000329582	T	0.29917	1.55	4.95	3.11	0.35812	Fibronectin, type III (1);Interferon alpha/beta receptor, beta chain (1);Immunoglobulin-like fold (1);	0.523822	0.18810	N	0.130540	T	0.19087	0.0458	L	0.27053	0.805	0.80722	D	1	B	0.26081	0.141	B	0.18561	0.022	T	0.04255	-1.0965	10	0.14656	T	0.56	-0.2217	11.5786	0.50879	0.0:0.3756:0.6244:0.0	.	217	Q6UXL0	I20RB_HUMAN	T	217	ENSP00000328133:A217T	ENSP00000328133:A217T	A	+	1	0	IL20RB	138193587	0.268000	0.24133	0.960000	0.40013	0.944000	0.59088	0.421000	0.21280	0.465000	0.27167	0.462000	0.41574	GCC		PASS	0.572	IL20RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357277.2	NM_144717		29	166	29	166	---	---	---	---
MRAS	22808	broad.mit.edu	37	3	138117349	138117349	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:138117349A>G	ENST00000289104.4	+	4	1033	c.386A>G	c.(385-387)gAt>gGt	p.D129G	MRAS_ENST00000474559.1_Missense_Mutation_p.D129G|MRAS_ENST00000464896.1_Missense_Mutation_p.D53G|MRAS_ENST00000423968.2_Missense_Mutation_p.D129G	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	129					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.D129G(1)		kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						AACAAGGTCGATTTGATGCAC	0.512																																						uc003esh.3																			1	Substitution - Missense(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(385-387)GAT>GGT		muscle RAS oncogene homolog precursor							179.0	154.0	162.0					3																	138117349		2203	4300	6503	SO:0001583	missense	22808				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr3:138117349A>G	AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.386A>G	3.37:g.138117349A>G	ENSP00000289104:p.Asp129Gly					MRAS_uc011bmi.1_Missense_Mutation_p.D53G|MRAS_uc003esi.3_Missense_Mutation_p.D129G|MRAS_uc011bmj.1_Missense_Mutation_p.D53G	p.D129G	NM_012219	NP_036351	O14807	RASM_HUMAN			4	947	+			129			GTP (By similarity).		B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	c.386A>G	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.773540	0.90108	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.98814	0.9600	H	0.99955	5.045	0.80722	D	1	D	0.65815	0.995	P	0.62885	0.908	D	0.98298	1.0517	10	0.87932	D	0	.	12.135	0.53966	1.0:0.0:0.0:0.0	.	129	O14807	RASM_HUMAN	G	129;129;53;53;129	ENSP00000289104:D129G;ENSP00000389682:D129G;ENSP00000417685:D53G;ENSP00000419582:D53G;ENSP00000418356:D129G	ENSP00000289104:D129G	D	+	2	0	MRAS	139600039	1.000000	0.71417	0.681000	0.30009	0.966000	0.64601	9.013000	0.93629	1.745000	0.51790	0.459000	0.35465	GAT		PASS	0.512	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			5	235	5	235	---	---	---	---
MME	4311	broad.mit.edu	37	3	154834694	154834694	+	Silent	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:154834694G>A	ENST00000460393.1	+	7	693	c.573G>A	c.(571-573)ctG>ctA	p.L191L	MME_ENST00000493237.1_Silent_p.L191L|MME_ENST00000492661.1_Silent_p.L191L|MME_ENST00000462745.1_Silent_p.L191L|MME_ENST00000360490.2_Silent_p.L191L	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	191					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)	p.L191L(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	TTGCACAACTGAATTCTAAAT	0.289																																						uc010hvr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(571-573)CTG>CTA		membrane metallo-endopeptidase	Candoxatril(DB00616)						62.0	65.0	64.0					3																	154834694		2203	4296	6499	SO:0001819	synonymous_variant	4311				cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr3:154834694G>A		CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.573G>A	3.37:g.154834694G>A						MME_uc003fab.1_Silent_p.L191L|MME_uc003fac.1_Silent_p.L191L|MME_uc003fad.1_Silent_p.L191L|MME_uc003fae.1_Silent_p.L191L	p.L191L	NM_007289	NP_009220	P08473	NEP_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		7	784	+		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	191			Extracellular (Potential).		A8K6U6|D3DNJ9|Q3MIX4	Silent	SNP	ENST00000460393.1	37	c.573G>A	CCDS3172.1																																																																																				PASS	0.289	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351076.1	NM_000902		159	89	159	89	---	---	---	---
RTP1	132112	broad.mit.edu	37	3	186917714	186917714	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:186917714C>T	ENST00000312295.4	+	2	678	c.648C>T	c.(646-648)acC>acT	p.T216T	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	216					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)	p.T216T(1)		breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCACCTACACCTTCTCCCGGG	0.667																																						uc003frg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|breast(1)	3						c.(646-648)ACC>ACT		receptor transporting protein 1							49.0	47.0	47.0					3																	186917714		2203	4300	6503	SO:0001819	synonymous_variant	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917714C>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.648C>T	3.37:g.186917714C>T							p.T216T	NM_153708	NP_714919	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	678	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		216			Cytoplasmic (Potential).			Silent	SNP	ENST00000312295.4	37	c.648C>T	CCDS3287.2																																																																																				PASS	0.667	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		4	209	4	209	---	---	---	---
LEPREL1	55214	broad.mit.edu	37	3	189692442	189692442	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:189692442C>T	ENST00000319332.5	-	9	1554	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	LEPREL1_ENST00000427335.2_Missense_Mutation_p.V272I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	453					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.V453I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAGTTGTAGACGAATGTGATG	0.537																																						uc011bsk.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1357-1359)GTC>ATC		leprecan-like 1 isoform a	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						89.0	70.0	76.0					3																	189692442		2203	4300	6503	SO:0001583	missense	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	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-proline 3-dioxygenase activity	g.chr3:189692442C>T		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1357G>A	3.37:g.189692442C>T	ENSP00000316881:p.Val453Ile					LEPREL1_uc003fsg.2_Missense_Mutation_p.V272I	p.V453I	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	9	1745	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		453					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1357G>A	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.755469	0.89843	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.67698	-0.28;-0.28	5.81	5.81	0.92471	.	0.059957	0.64402	D	0.000003	T	0.53302	0.1788	L	0.47190	1.495	0.58432	D	0.999992	P	0.38978	0.652	B	0.26693	0.072	T	0.54788	-0.8241	9	.	.	.	-24.1597	12.3876	0.55340	0.0:0.9238:0.0:0.0761	.	453	Q8IVL5	P3H2_HUMAN	I	453;272	ENSP00000316881:V453I;ENSP00000408947:V272I	.	V	-	1	0	LEPREL1	191175136	0.969000	0.33509	0.974000	0.42286	0.959000	0.62525	2.358000	0.44134	2.738000	0.93877	0.655000	0.94253	GTC		PASS	0.537	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1	NM_018192		18	216	18	216	---	---	---	---
SENP5	205564	broad.mit.edu	37	3	196613165	196613165	+	Silent	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:196613165G>A	ENST00000323460.5	+	2	1362	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	SENP5_ENST00000445299.2_Silent_p.L371L|SENP5_ENST00000419026.1_Intron	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	371					cell cycle (GO:0007049)|cell division (GO:0051301)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)	p.L371L(1)		NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		GTACAGAGCTGATTCATGACA	0.438																																					Ovarian(47;891 1095 11174 13858 51271)	uc003fwz.3																			1	Substitution - coding silent(1)		lung(1)	breast(2)|lung(1)	3						c.(1111-1113)CTG>CTA		SUMO1/sentrin specific peptidase 5							72.0	72.0	72.0					3																	196613165		2203	4300	6503	SO:0001819	synonymous_variant	205564				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity	g.chr3:196613165G>A	BC030705	CCDS3322.1	3q29	2005-08-17	2005-08-17		ENSG00000119231	ENSG00000119231			28407	protein-coding gene	gene with protein product		612845	"""SUMO1/sentrin specific protease 5"""			12477932	Standard	NM_152699		Approved	MGC27076	uc003fwz.4	Q96HI0	OTTHUMG00000155527	ENST00000323460.5:c.1113G>A	3.37:g.196613165G>A						SENP5_uc011bty.1_Silent_p.L371L	p.L371L	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)	2	1362	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		371					B4DY82|Q96SA5	Silent	SNP	ENST00000323460.5	37	c.1113G>A	CCDS3322.1																																																																																				PASS	0.438	SENP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340524.1	NM_152699		12	202	12	202	---	---	---	---
ZNF595	152687	broad.mit.edu	37	4	53386	53386	+	Splice_Site	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr4:53386G>T	ENST00000509152.2	+	1	188		c.e1+1		ZNF595_ENST00000526473.2_Splice_Site|ZNF595_ENST00000339368.6_Splice_Site			Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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.?(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TCGGGAAATGGTGAGTGTGCG	0.642																																						uc003fzv.1																			1	Unknown(1)		lung(1)		0						c.e1+1		zinc finger protein 595							205.0	234.0	224.0					4																	53386		2203	4300	6503	SO:0001630	splice_region_variant	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:53386G>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.3+1G>T	4.37:g.53386G>T						ZNF595_uc003fzu.1_Splice_Site|ZNF718_uc003fzt.3_Splice_Site_p.M1_splice|ZNF595_uc010iay.1_Splice_Site|ZNF595_uc011bus.1_Splice_Site|ZNF595_uc011but.1_Splice_Site	p.M1_splice	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	1	159	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Splice_Site	SNP	ENST00000509152.2	37	c.3_splice		.	.	.	.	.	.	.	.	.	.	a	3.640	-0.073710	0.07184	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	.	.	.	0.51	-0.474	0.12108	.	.	.	.	.	.	.	.	.	.	.	0.26818	N	0.968847	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF595	43386	0.011000	0.17503	0.118000	0.21660	0.022000	0.10575	-0.507000	0.06352	-0.298000	0.08921	-0.671000	0.03813	.		PASS	0.642	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524	Intron	31	382	31	382	---	---	---	---
PCDH7	5099	broad.mit.edu	37	4	30724344	30724344	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr4:30724344G>A	ENST00000361762.2	+	1	2308	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	PCDH7_ENST00000543491.1_Missense_Mutation_p.E434K	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	434	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E434K(1)|p.E387K(1)		NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CAACGTGGCCGAGGACGTTCT	0.627																																						uc003gsk.1																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1)	4						c.(1300-1302)GAG>AAG		protocadherin 7 isoform a precursor							47.0	42.0	44.0					4																	30724344		2203	4300	6503	SO:0001583	missense	5099				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chr4:30724344G>A	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1300G>A	4.37:g.30724344G>A	ENSP00000355243:p.Glu434Lys					PCDH7_uc011bxw.1_Missense_Mutation_p.E387K|PCDH7_uc011bxx.1_Missense_Mutation_p.E434K	p.E434K	NM_002589	NP_002580	O60245	PCDH7_HUMAN			1	2308	+			434			Extracellular (Potential).|Cadherin 4.		O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	37	c.1300G>A	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.1|28.1	4.894555|4.894555	0.91962|0.91962	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000361762;ENST00000543491;ENST00000333135|ENST00000511884	T;T|.	0.76316|.	-1.01;-1.01|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Cadherin (3);Cadherin-like (1);|.	.|.	.|.	.|.	.|.	D|D	0.91043|0.91043	0.7182|0.7182	H|H	0.98487|0.98487	4.245|4.245	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	D|D	0.94321|0.94321	0.7553|0.7553	9|5	0.87932|.	D|.	0|.	.|.	19.3488|19.3488	0.94376|0.94376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	434;387;434|.	F5GWJ1;O60245-3;O60245|.	.;.;PCDH7_HUMAN|.	K|Q	434;434;387|123	ENSP00000355243:E434K;ENSP00000441802:E434K|.	ENSP00000330302:E387K|.	E|R	+|+	1|2	0|0	PCDH7|PCDH7	30333442|30333442	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.992000|0.992000	0.81027|0.81027	9.869000|9.869000	0.99810|0.99810	2.569000|2.569000	0.86673|0.86673	0.655000|0.655000	0.94253|0.94253	GAG|CGA		PASS	0.627	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589		32	11	32	11	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46125865	46125865	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr4:46125865C>T	ENST00000295452.4	-	1	233	c.66G>A	c.(64-66)agG>agA	p.R22R		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	22					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R22R(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGAAGACCAACCTCACCCCTC	0.453																																						uc003gxb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(64-66)AGG>AGA		gamma-aminobutyric acid A receptor, gamma 1							76.0	80.0	79.0					4																	46125865		2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46125865C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.66G>A	4.37:g.46125865C>T							p.R22R	NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	1	218	-			22					Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.66G>A	CCDS3470.1																																																																																				PASS	0.453	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		22	13	22	13	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55136842	55136842	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr4:55136842C>A	ENST00000257290.5	+	8	1495	c.1164C>A	c.(1162-1164)gaC>gaA	p.D388E	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	388	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D388E(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGGAAGAAGACAGTGGCCATT	0.338			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	uc003han.3				Dom	yes		4	4q11-q13	5156	Mis|O|T	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		GIST|idiopathic hypereosinophilic syndrome		1	Substitution - Missense(1)		lung(1)	soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1)	674						c.(1162-1164)GAC>GAA		platelet-derived growth factor receptor alpha	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						150.0	154.0	153.0					4																	55136842		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55136842C>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1164C>A	4.37:g.55136842C>A	ENSP00000257290:p.Asp388Glu	TSP Lung(21;0.16)				PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.D282E|PDGFRA_uc003ham.2_RNA	p.D388E	NM_006206	NP_006197	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	1495	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		388			Ig-like C2-type 4.|Extracellular (Potential).		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1164C>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	c	10.28	1.306523	0.23736	.	.	ENSG00000134853	ENST00000257290	T	0.81163	-1.46	5.84	5.0	0.66597	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.33610	U	0.004725	T	0.79263	0.4416	L	0.39085	1.19	0.80722	D	1	B;P	0.51653	0.006;0.947	B;P	0.55222	0.015;0.771	T	0.74876	-0.3515	10	0.07175	T	0.84	.	14.9362	0.70957	0.0:0.9315:0.0:0.0685	.	388;388	P16234-3;P16234	.;PGFRA_HUMAN	E	388	ENSP00000257290:D388E	ENSP00000257290:D388E	D	+	3	2	PDGFRA	54831599	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	2.025000	0.41059	1.481000	0.48307	0.651000	0.88453	GAC		PASS	0.338	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		46	38	46	38	---	---	---	---
SRD5A3	79644	broad.mit.edu	37	4	56212685	56212685	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr4:56212685C>T	ENST00000264228.4	+	1	410	c.182C>T	c.(181-183)tCg>tTg	p.S61L		NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	61					androgen biosynthetic process (GO:0006702)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|polyprenol catabolic process (GO:0016095)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	3-oxo-5-alpha-steroid 4-dehydrogenase activity (GO:0003865)|cholestenone 5-alpha-reductase activity (GO:0047751)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)	p.S61L(2)		cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)		Spironolactone(DB00421)	GGGGAGCCGTCGCGCCCCGCC	0.706																																						uc003hau.2																			2	Substitution - Missense(2)		lung(1)|skin(1)		0						c.(181-183)TCG>TTG		steroid 5 alpha-reductase 3							9.0	11.0	11.0					4																	56212685		2104	4165	6269	SO:0001583	missense	79644				androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor	g.chr4:56212685C>T	AK023414	CCDS3498.1	4q12	2009-07-21			ENSG00000128039	ENSG00000128039			25812	protein-coding gene	gene with protein product		611715				17986282	Standard	NM_024592		Approved	FLJ13352, SRD5A2L, SRD5A2L1	uc003hau.3	Q9H8P0	OTTHUMG00000128733	ENST00000264228.4:c.182C>T	4.37:g.56212685C>T	ENSP00000264228:p.Ser61Leu						p.S61L	NM_024592	NP_078868	Q9H8P0	PORED_HUMAN	Epithelial(7;0.0179)		1	277	+	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		61			Lumenal (Potential).		Q4W5Q6	Missense_Mutation	SNP	ENST00000264228.4	37	c.182C>T	CCDS3498.1	.	.	.	.	.	.	.	.	.	.	C	7.321	0.616920	0.14129	.	.	ENSG00000128039	ENST00000264228;ENST00000505210	T;T	0.37235	1.21;2.24	4.05	-3.33	0.04958	.	1.770900	0.02776	N	0.120310	T	0.18718	0.0449	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.10314	-1.0635	10	0.28530	T	0.3	.	2.7855	0.05372	0.4753:0.1751:0.2559:0.0937	.	61	Q9H8P0	PORED_HUMAN	L	61;36	ENSP00000264228:S61L;ENSP00000424714:S36L	ENSP00000264228:S61L	S	+	2	0	SRD5A3	55907442	0.000000	0.05858	0.052000	0.19188	0.225000	0.24961	-3.838000	0.00354	-0.308000	0.08792	0.313000	0.20887	TCG		PASS	0.706	SRD5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250644.2	NM_024592		15	1	15	1	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123230459	123230459	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr4:123230459G>C	ENST00000264501.4	+	59	10465	c.10092G>C	c.(10090-10092)ttG>ttC	p.L3364F	KIAA1109_ENST00000455637.1_Missense_Mutation_p.L3364F|KIAA1109_ENST00000388738.3_Missense_Mutation_p.L3364F			Q2LD37	K1109_HUMAN	KIAA1109	3364					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.L3364F(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTCTGCTTTGGTATTAACCA	0.353																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(10090-10092)TTG>TTC		fragile site-associated protein							128.0	114.0	118.0					4																	123230459		1839	4095	5934	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123230459G>C	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.10092G>C	4.37:g.123230459G>C	ENSP00000264501:p.Leu3364Phe					KIAA1109_uc003iel.1_Missense_Mutation_p.L1299F	p.L3364F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			57	10137	+			3364					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.10092G>C	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.91|16.91	3.251999|3.251999	0.59212|0.59212	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000419325|ENST00000264501;ENST00000388738;ENST00000455637	.|T;T;T	.|0.37235	.|1.81;1.81;1.21	5.54|5.54	-5.27|-5.27	0.02763|0.02763	.|.	.|0.117708	.|0.33534	.|N	.|0.004801	T|T	0.27313|0.27313	0.0670|0.0670	L|L	0.59436|0.59436	1.845|1.845	0.38166|0.38166	D|D	0.939179|0.939179	.|B;B	.|0.10296	.|0.0;0.003	.|B;B	.|0.09377	.|0.002;0.004	T|T	0.05257|0.05257	-1.0896|-1.0896	5|10	.|0.72032	.|D	.|0.01	.|.	9.0926|9.0926	0.36621|0.36621	0.4032:0.0:0.4933:0.1035|0.4032:0.0:0.4933:0.1035	.|.	.|3364;3364	.|Q2LD37-6;Q2LD37	.|.;K1109_HUMAN	R|F	1322|3364	.|ENSP00000264501:L3364F;ENSP00000373390:L3364F;ENSP00000389925:L3364F	.|ENSP00000264501:L3364F	G|L	+|+	1|3	0|2	KIAA1109|KIAA1109	123449909|123449909	0.968000|0.968000	0.33430|0.33430	0.032000|0.032000	0.17829|0.17829	0.979000|0.979000	0.70002|0.70002	0.163000|0.163000	0.16520|0.16520	-0.503000|-0.503000	0.06586|0.06586	-0.262000|-0.262000	0.10625|0.10625	GGT|TTG		PASS	0.353	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		56	35	56	35	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187524342	187524342	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr4:187524342A>T	ENST00000441802.2	-	19	11547	c.11338T>A	c.(11338-11340)Tgt>Agt	p.C3780S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3780					actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.C3780S(1)|p.C3783S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCAGAGACACACCGCTGCC	0.498										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(11338-11340)TGT>AGT		FAT tumor suppressor 1 precursor							50.0	50.0	50.0					4																	187524342		2045	4191	6236	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187524342A>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.11338T>A	4.37:g.187524342A>T	ENSP00000406229:p.Cys3780Ser	HNSCC(5;0.00058)					p.C3780S	NM_005245	NP_005236	Q14517	FAT1_HUMAN			19	11526	-			3780			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000441802.2	37	c.11338T>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	19.15	3.770970	0.69992	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.46063	0.88	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.68833	0.3044	M	0.88704	2.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.76027	-0.3109	10	0.66056	D	0.02	.	14.0944	0.65010	1.0:0.0:0.0:0.0	.	3780	Q14517	FAT1_HUMAN	S	3780;3782	ENSP00000406229:C3780S	ENSP00000260147:C3782S	C	-	1	0	FAT1	187761336	1.000000	0.71417	0.998000	0.56505	0.576000	0.36127	9.087000	0.94110	1.986000	0.57962	0.455000	0.32223	TGT		PASS	0.498	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	15	8	15	---	---	---	---
TERT	7015	broad.mit.edu	37	5	1253924	1253924	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:1253924C>T	ENST00000310581.5	-	16	3375	c.3318G>A	c.(3316-3318)aaG>aaA	p.K1106K	TERT_ENST00000334602.6_Silent_p.K1043K|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1106	CTE.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)	p.K1106K(1)|p.K1094K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	TCCCCGGGAGCTTCCGACTCA	0.657									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													uc003jcb.1																			2	Substitution - coding silent(2)		lung(2)	lung(7)|ovary(2)|central_nervous_system(2)|skin(1)	12						c.(3316-3318)AAG>AAA		telomerase reverse transcriptase isoform 1							22.0	31.0	28.0					5																	1253924		2178	4262	6440	SO:0001819	synonymous_variant	7015	TERT_Mutation-Associated_Haematological_Disorders|Congenital_Dyskeratosis|Pulmonary_Fibrosis_Idiopathic	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1253924C>T	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.3318G>A	5.37:g.1253924C>T						TERT_uc003jbz.1_Silent_p.K302K|TERT_uc003jca.1_Silent_p.K1094K|TERT_uc003jcc.1_Silent_p.K1043K|TERT_uc003jcd.1_RNA|TERT_uc003jce.1_RNA	p.K1106K	NM_198253	NP_937983	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		16	3376	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		1106			CTE.		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Silent	SNP	ENST00000310581.5	37	c.3318G>A	CCDS3861.2																																																																																				PASS	0.657	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			9	12	9	12	---	---	---	---
CDH10	1008	broad.mit.edu	37	5	24511474	24511474	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:24511474C>T	ENST00000264463.4	-	6	1471	c.964G>A	c.(964-966)Gag>Aag	p.E322K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E322K(1)|p.E322*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTGTCCTTCTCAGTCACGATG	0.413										HNSCC(23;0.051)																												uc003jgr.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(6)|pancreas(4)|breast(2)	12						c.(964-966)GAG>AAG		cadherin 10, type 2 preproprotein							271.0	216.0	234.0					5																	24511474		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511474C>T	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.964G>A	5.37:g.24511474C>T	ENSP00000264463:p.Glu322Lys	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.E322K	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1296	-			322			Cadherin 3.|Extracellular (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.964G>A	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205305	0.58234	.	.	ENSG00000040731	ENST00000264463	T	0.52983	0.64	5.22	4.33	0.51752	Cadherin (4);Cadherin-like (1);	0.322834	0.32868	N	0.005554	T	0.42539	0.1207	L	0.38175	1.15	0.35555	D	0.804237	B	0.18741	0.03	B	0.30716	0.119	T	0.55768	-0.8089	10	0.87932	D	0	.	13.5546	0.61751	0.0:0.7677:0.2322:0.0	.	322	Q9Y6N8	CAD10_HUMAN	K	322	ENSP00000264463:E322K	ENSP00000264463:E322K	E	-	1	0	CDH10	24547231	0.958000	0.32768	0.999000	0.59377	0.848000	0.48234	2.030000	0.41108	2.410000	0.81850	0.650000	0.86243	GAG		PASS	0.413	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		128	201	128	201	---	---	---	---
TTC23L	153657	broad.mit.edu	37	5	34863137	34863137	+	Missense_Mutation	SNP	G	G	A	rs374310226		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:34863137G>A	ENST00000505624.1	+	5	617	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	172								p.V172M(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						CACTCTGGGCGTGGCCTGGCT	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		19974	0.001		0.0	False		,,,				2504	0.0					uc003jiu.2																			2	Substitution - Missense(2)		lung(1)|prostate(1)	central_nervous_system(1)	1						c.(514-516)GTG>ATG		tetratricopeptide repeat domain 23-like		G	MET/VAL	0,4018		0,0,2009	125.0	126.0	126.0		514	0.9	0.6	5		126	1,8353		0,1,4176	no	missense	TTC23L	NM_144725.3	21	0,1,6185	AA,AG,GG		0.012,0.0,0.0081	benign	172/362	34863137	1,12371	2009	4177	6186	SO:0001583	missense	153657						binding	g.chr5:34863137G>A		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.514G>A	5.37:g.34863137G>A	ENSP00000422188:p.Val172Met					TTC23L_uc003jiv.2_5'Flank|TTC23L_uc010iut.1_5'Flank	p.V172M	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			5	617	+			172					Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	37	c.514G>A	CCDS54840.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.619520	0.28801	0.0	1.2E-4	ENSG00000205838	ENST00000505624;ENST00000535797	T	0.74209	-0.82	4.78	0.941	0.19519	.	0.670270	0.14117	N	0.340273	T	0.57140	0.2033	L	0.36672	1.1	0.18873	N	0.999981	B	0.33494	0.414	B	0.24155	0.051	T	0.38067	-0.9678	9	.	.	.	-23.8355	8.393	0.32540	0.3456:0.0:0.6544:0.0	.	172	Q6PF05	TT23L_HUMAN	M	172	ENSP00000422188:V172M	.	V	+	1	0	TTC23L	34898894	0.150000	0.22732	0.598000	0.28837	0.885000	0.51271	0.389000	0.20751	0.297000	0.22615	0.655000	0.94253	GTG		PASS	0.517	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		6	189	6	189	---	---	---	---
UGT3A2	167127	broad.mit.edu	37	5	36051998	36051998	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:36051998G>T	ENST00000282507.3	-	3	386	c.285C>A	c.(283-285)ttC>ttA	p.F95L	UGT3A2_ENST00000504954.1_5'UTR|UGT3A2_ENST00000513300.1_Missense_Mutation_p.F61L|UGT3A2_ENST00000545528.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	95					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.F95L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCCAGAAAGAAATCAAAAC	0.308																																						uc003jjz.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(2)|large_intestine(1)|pancreas(1)	6						c.(283-285)TTC>TTA		UDP glycosyltransferase 3 family, polypeptide A2							46.0	49.0	48.0					5																	36051998		2202	4298	6500	SO:0001583	missense	167127					integral to membrane	glucuronosyltransferase activity	g.chr5:36051998G>T		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.285C>A	5.37:g.36051998G>T	ENSP00000282507:p.Phe95Leu					UGT3A2_uc011cos.1_Missense_Mutation_p.F61L|UGT3A2_uc011cot.1_5'UTR	p.F95L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		3	378	-	all_lung(31;0.000179)		95			Extracellular (Potential).		B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	ENST00000282507.3	37	c.285C>A	CCDS3914.1	.	.	.	.	.	.	.	.	.	.	G	2.993	-0.207675	0.06180	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000515131	T;T;T	0.58506	0.33;0.33;1.58	3.33	-3.99	0.04069	.	12.304500	0.01538	U	0.019085	T	0.32823	0.0842	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.003	T	0.11108	-1.0601	10	0.09843	T	0.71	.	0.1451	0.00087	0.2954:0.2594:0.1831:0.2621	.	61;95	E9PFK7;Q3SY77	.;UD3A2_HUMAN	L	95;61;95	ENSP00000282507:F95L;ENSP00000427404:F61L;ENSP00000420865:F95L	ENSP00000282507:F95L	F	-	3	2	UGT3A2	36087755	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.048000	0.14078	-1.003000	0.03425	-0.844000	0.03045	TTC		PASS	0.308	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253771.2	NM_174914		33	62	33	62	---	---	---	---
OSMR	9180	broad.mit.edu	37	5	38921735	38921735	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:38921735G>A	ENST00000274276.3	+	12	2006	c.1604G>A	c.(1603-1605)aGa>aAa	p.R535K		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	535	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)	p.R535K(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAGGAAGAAAGAATTGCAGGC	0.398																																						uc003jln.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(1603-1605)AGA>AAA		oncostatin M receptor precursor							168.0	156.0	160.0					5																	38921735		2203	4300	6503	SO:0001583	missense	9180				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	g.chr5:38921735G>A	U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.1604G>A	5.37:g.38921735G>A	ENSP00000274276:p.Arg535Lys					OSMR_uc011cpj.1_5'UTR	p.R535K	NM_003999	NP_003990	Q99650	OSMR_HUMAN			12	1971	+	all_lung(31;0.000365)		535			Fibronectin type-III 3.|Extracellular (Potential).		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	ENST00000274276.3	37	c.1604G>A	CCDS3928.1	.	.	.	.	.	.	.	.	.	.	G	7.836	0.720896	0.15372	.	.	ENSG00000145623	ENST00000274276	T	0.38077	1.16	5.1	-1.03	0.10102	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (3);	0.474602	0.21200	N	0.078499	T	0.18341	0.0440	L	0.50333	1.59	0.21740	N	0.999568	P	0.36974	0.576	B	0.34242	0.178	T	0.32929	-0.9888	10	0.05436	T	0.98	.	1.1245	0.01732	0.3395:0.151:0.3645:0.145	.	535	Q99650	OSMR_HUMAN	K	535	ENSP00000274276:R535K	ENSP00000274276:R535K	R	+	2	0	OSMR	38957492	0.297000	0.24408	0.029000	0.17559	0.105000	0.19272	0.121000	0.15667	-0.426000	0.07360	-0.309000	0.09137	AGA		PASS	0.398	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000207609.2	NM_003999		44	87	44	87	---	---	---	---
MROH2B	133558	broad.mit.edu	37	5	41009428	41009428	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:41009428A>T	ENST00000399564.4	-	32	3824	c.3374T>A	c.(3373-3375)cTg>cAg	p.L1125Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.L680Q	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1125								p.L1125Q(1)									CTCAGTCTCCAGTTTGTCTAT	0.502																																						uc003jmj.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(3373-3375)CTG>CAG		HEAT repeat family member 7B2							139.0	141.0	140.0					5																	41009428		1942	4132	6074	SO:0001583	missense	133558						binding	g.chr5:41009428A>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3374T>A	5.37:g.41009428A>T	ENSP00000382476:p.Leu1125Gln					HEATR7B2_uc003jmi.3_Missense_Mutation_p.L680Q	p.L1125Q	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			32	3864	-			1125			HEAT 12.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3374T>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561121	0.65538	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.05258	3.47;3.47	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.49305	D	0.000153	T	0.24044	0.0582	M	0.69823	2.125	0.47862	D	0.999533	D	0.89917	1.0	D	0.91635	0.999	T	0.00210	-1.1916	10	0.72032	D	0.01	.	13.214	0.59844	1.0:0.0:0.0:0.0	.	1125	Q7Z745	HTRB2_HUMAN	Q	680;830;1125	ENSP00000441504:L680Q;ENSP00000382476:L1125Q	ENSP00000296803:L830Q	L	-	2	0	HEATR7B2	41045185	1.000000	0.71417	0.914000	0.36105	0.401000	0.30781	4.247000	0.58750	2.371000	0.80710	0.533000	0.62120	CTG		PASS	0.502	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		72	112	72	112	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127729049	127729049	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:127729049C>T	ENST00000508053.1	-	16	2218	c.1244G>A	c.(1243-1245)aGa>aAa	p.R415K	FBN2_ENST00000508989.1_Missense_Mutation_p.R382K|FBN2_ENST00000262464.4_Missense_Mutation_p.R415K			P35556	FBN2_HUMAN	fibrillin 2	415	TB 2.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R415K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CATGCAAAGTCTGCGATATTC	0.478																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(1243-1245)AGA>AAA		fibrillin 2 precursor							59.0	56.0	57.0					5																	127729049		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127729049C>T	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1244G>A	5.37:g.127729049C>T	ENSP00000424571:p.Arg415Lys					FBN2_uc003kuv.2_Missense_Mutation_p.R382K	p.R415K	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	10	1683	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	415			TB 2.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1244G>A	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	4.547	0.101526	0.08731	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.91740	-2.9;-2.9;-2.9	4.11	3.25	0.37280	Matrix fibril-associated (2);TGF-beta binding (1);	0.000000	0.85682	D	0.000000	D	0.85579	0.5729	L	0.39326	1.205	0.38072	D	0.936395	B;B	0.20052	0.041;0.017	B;B	0.22386	0.039;0.039	T	0.77892	-0.2418	10	0.02654	T	1	.	12.7924	0.57541	0.0:0.9186:0.0:0.0814	.	382;415	D6RJI3;P35556	.;FBN2_HUMAN	K	415;415;382	ENSP00000262464:R415K;ENSP00000424571:R415K;ENSP00000425596:R382K	ENSP00000262464:R415K	R	-	2	0	FBN2	127756948	1.000000	0.71417	0.960000	0.40013	0.027000	0.11550	3.928000	0.56506	1.322000	0.45245	-0.136000	0.14681	AGA		PASS	0.478	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		55	30	55	30	---	---	---	---
TRPC7	57113	broad.mit.edu	37	5	135583342	135583342	+	Missense_Mutation	SNP	C	C	A	rs183404828		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:135583342C>A	ENST00000513104.1	-	7	1943	c.1661G>T	c.(1660-1662)cGc>cTc	p.R554L	TRPC7_ENST00000426057.2_Missense_Mutation_p.R438L|TRPC7_ENST00000355180.3_Missense_Mutation_p.R493L	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	554					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R554L(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTATGCAATGCGAGAGAAGCT	0.498																																						uc003lbn.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1657-1659)CGC>CTC		transient receptor potential cation channel,							122.0	122.0	122.0					5																	135583342		1968	4171	6139	SO:0001583	missense	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135583342C>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.1661G>T	5.37:g.135583342C>A	ENSP00000426070:p.Arg554Leu					TRPC7_uc010jef.1_Missense_Mutation_p.R490L|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Missense_Mutation_p.R484L|TRPC7_uc010jei.1_Missense_Mutation_p.R429L|TRPC7_uc010jej.1_Missense_Mutation_p.R105L	p.R553L	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	1661	-			554			Helical; (Potential).		A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	c.1658G>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	C	35	5.423075	0.96111	.	.	ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193	D;D;D	0.99619	-6.28;-6.28;-6.28	5.65	5.65	0.86999	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99674	0.9878	M	0.87381	2.88	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.98212	1.0473	10	0.66056	D	0.02	-14.3984	19.9142	0.97043	0.0:1.0:0.0:0.0	.	438;493;499;554	Q8IWP7;F5H5U9;Q70T25;Q9HCX4	.;.;.;TRPC7_HUMAN	L	493;438;554;554	ENSP00000347312:R493L;ENSP00000441628:R438L;ENSP00000426070:R554L	ENSP00000265193:R554L	R	-	2	0	TRPC7	135611241	1.000000	0.71417	0.981000	0.43875	0.995000	0.86356	7.651000	0.83577	2.941000	0.99782	0.655000	0.94253	CGC		PASS	0.498	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389		70	32	70	32	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140214080	140214080	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:140214080G>A	ENST00000525929.1	+	1	112	c.112G>A	c.(112-114)Gag>Aag	p.E38K	PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.E38K|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	38	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E38K(2)|p.E38*(1)		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)			GGTCCCCGAGGAGGCTAAACA	0.617																																					NSCLC(160;258 2013 5070 22440 28951)	uc003lhq.2																			3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(2)|upper_aerodigestive_tract(1)	ovary(2)|skin(2)	4						c.(112-114)GAG>AAG		protocadherin alpha 7 isoform 1 precursor							56.0	69.0	65.0					5																	140214080		2203	4300	6503	SO:0001583	missense	56141				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140214080G>A	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.112G>A	5.37:g.140214080G>A	ENSP00000436426:p.Glu38Lys					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.E38K	p.E38K	NM_018910	NP_061733	Q9UN72	PCDA7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	112	+			38			Cadherin 1.|Extracellular (Potential).		O75282	Missense_Mutation	SNP	ENST00000525929.1	37	c.112G>A	CCDS54918.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.309671	0.81247	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.59906	0.23;0.23	4.21	4.21	0.49690	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	D	0.86418	0.5928	H	0.99487	4.59	0.43527	D	0.995805	D;D	0.89917	1.0;1.0	D;D	0.72982	0.976;0.979	D	0.93104	0.6511	9	0.87932	D	0	.	16.9327	0.86195	0.0:0.0:1.0:0.0	.	38;38	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	K	38	ENSP00000436426:E38K;ENSP00000367365:E38K	ENSP00000367365:E38K	E	+	1	0	PCDHA7	140194264	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	6.307000	0.72815	2.032000	0.59987	0.455000	0.32223	GAG		PASS	0.617	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		89	44	89	44	---	---	---	---
PCDH1	5097	broad.mit.edu	37	5	141243253	141243253	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:141243253C>A	ENST00000394536.3	-	3	2782	c.2643G>T	c.(2641-2643)gaG>gaT	p.E881D	PCDH1_ENST00000287008.3_Missense_Mutation_p.E881D|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000536585.1_Missense_Mutation_p.E859D|PCDH1_ENST00000456271.1_Missense_Mutation_p.E869D|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	881					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E881D(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CACTTTTGGCCTCCCGCTGTC	0.582																																					Ovarian(132;1609 1739 4190 14731 45037)	uc003llq.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2641-2643)GAG>GAT		protocadherin 1 isoform 1 precursor							168.0	172.0	171.0					5																	141243253		2203	4300	6503	SO:0001583	missense	5097				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding	g.chr5:141243253C>A	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2643G>T	5.37:g.141243253C>A	ENSP00000378043:p.Glu881Asp					PCDH1_uc003llp.2_Missense_Mutation_p.E881D|PCDH1_uc011dbf.1_Missense_Mutation_p.E859D	p.E881D	NM_002587	NP_002578	Q08174	PCDH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)	3	2760	-		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	881			Cytoplasmic (Potential).		Q8IUP2	Missense_Mutation	SNP	ENST00000394536.3	37	c.2643G>T	CCDS43375.1	.	.	.	.	.	.	.	.	.	.	c	4.622	0.115683	0.08831	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.75	2.96	0.34315	Protocadherin (1);	0.000000	0.52532	D	0.000076	T	0.27454	0.0674	L	0.57536	1.79	0.52099	D	0.999945	B;B	0.22541	0.071;0.02	B;B	0.22152	0.038;0.02	T	0.08269	-1.0730	10	0.59425	D	0.04	.	6.5687	0.22527	0.0:0.7057:0.0:0.2943	.	881;881	Q08174;Q08174-2	PCDH1_HUMAN;.	D	881;881;869;892;859	ENSP00000287008:E881D;ENSP00000378043:E881D;ENSP00000403497:E869D;ENSP00000350122:E892D;ENSP00000438825:E859D	ENSP00000287008:E881D	E	-	3	2	PCDH1	141223437	0.995000	0.38212	1.000000	0.80357	0.886000	0.51366	0.393000	0.20817	0.602000	0.29896	0.457000	0.33378	GAG		PASS	0.582	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1	NM_032420		200	104	200	104	---	---	---	---
RNF145	153830	broad.mit.edu	37	5	158603839	158603839	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:158603839A>G	ENST00000424310.2	-	5	781	c.422T>C	c.(421-423)aTg>aCg	p.M141T	RNF145_ENST00000521606.2_Missense_Mutation_p.M158T|RNF145_ENST00000520638.1_Missense_Mutation_p.M155T|RNF145_ENST00000518802.1_Missense_Mutation_p.M171T|RNF145_ENST00000274542.2_Missense_Mutation_p.M169T|RNF145_ENST00000519865.1_Missense_Mutation_p.M141T	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	141						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.M169T(4)		endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTTGTTTTCATGACACAGGA	0.363																																						uc003lxp.2																			4	Substitution - Missense(4)		endometrium(3)|lung(1)	ovary(3)|lung(1)|skin(1)	5						c.(421-423)ATG>ACG		ring finger protein 145							35.0	33.0	34.0					5																	158603839		2201	4298	6499	SO:0001583	missense	153830					integral to membrane	zinc ion binding	g.chr5:158603839A>G	BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.422T>C	5.37:g.158603839A>G	ENSP00000409064:p.Met141Thr					RNF145_uc011ddy.1_Missense_Mutation_p.M155T|RNF145_uc003lxo.1_Missense_Mutation_p.M169T|RNF145_uc011ddz.1_Missense_Mutation_p.M158T|RNF145_uc010jiq.1_Missense_Mutation_p.M171T|RNF145_uc011dea.1_Missense_Mutation_p.M157T	p.M141T	NM_144726	NP_653327	Q96MT1	RN145_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	735	-	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	141			Helical; (Potential).		B7Z903|B7Z949|E7EVI7|Q8IVP7	Missense_Mutation	SNP	ENST00000424310.2	37	c.422T>C	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.282699	0.80692	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.77229	-1.08;-1.06;-1.06;-1.07;-1.07;-1.08;-1.07	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	L	0.44542	1.39	0.80722	D	1	D;D;D;D;D;D	0.57257	0.979;0.979;0.979;0.979;0.979;0.974	P;P;P;P;P;P	0.57846	0.828;0.828;0.828;0.828;0.76;0.736	D	0.83797	0.0234	10	0.72032	D	0.01	-20.3428	15.6548	0.77124	1.0:0.0:0.0:0.0	.	157;158;155;171;141;169	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	T	169;141;141;157;158;171;141;155	ENSP00000274542:M169T;ENSP00000430397:M141T;ENSP00000409064:M141T;ENSP00000430753:M157T;ENSP00000445115:M158T;ENSP00000430955:M171T;ENSP00000429071:M155T	ENSP00000274542:M169T	M	-	2	0	RNF145	158536417	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.162000	0.67917	0.377000	0.23210	ATG		PASS	0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726		3	28	3	28	---	---	---	---
FOXI1	2299	broad.mit.edu	37	5	169533492	169533492	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:169533492C>T	ENST00000306268.6	+	1	592	c.531C>T	c.(529-531)ctC>ctT	p.L177L	FOXI1_ENST00000449804.2_Silent_p.L177L			Q12951	FOXI1_HUMAN	forkhead box I1	177					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.L177L(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACCTGTCGCTCAACGACTGCT	0.592									Pendred syndrome																													uc003mai.3																			1	Substitution - coding silent(1)		lung(1)	breast(3)|central_nervous_system(1)	4						c.(529-531)CTC>CTT		forkhead box I1 isoform a							41.0	44.0	43.0					5																	169533492		2203	4298	6501	SO:0001819	synonymous_variant	2299	Pendred_syndrome	Familial Cancer Database	Goiter-Deafness syndrome	epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr5:169533492C>T	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.531C>T	5.37:g.169533492C>T						FOXI1_uc003maj.3_Silent_p.L177L	p.L177L	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		1	576	+	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	177			Fork-head.		Q14518|Q66SR7|Q8N6L8	Silent	SNP	ENST00000306268.6	37	c.531C>T	CCDS4372.1																																																																																				PASS	0.592	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188		15	13	15	13	---	---	---	---
TRIM38	10475	broad.mit.edu	37	6	25983831	25983831	+	Silent	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr6:25983831G>T	ENST00000357085.3	+	8	1790	c.1314G>T	c.(1312-1314)ccG>ccT	p.P438P	TRIM38_ENST00000349458.3_Silent_p.P438P|U91328.21_ENST00000608931.1_RNA	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	438	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)	p.P438P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						TTACTTTCCCGAAGGCTTCCT	0.478																																						uc003nfm.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1312-1314)CCG>CCT		tripartite motif-containing 38							72.0	71.0	71.0					6																	25983831		2203	4300	6503	SO:0001819	synonymous_variant	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25983831G>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.1314G>T	6.37:g.25983831G>T						TRIM38_uc003nfn.2_Silent_p.P420P|TRIM38_uc010jqd.2_Silent_p.P74P	p.P438P	NM_006355	NP_006346	O00635	TRI38_HUMAN			8	1749	+			438			B30.2/SPRY.		B2R862	Silent	SNP	ENST00000357085.3	37	c.1314G>T	CCDS4568.1																																																																																				PASS	0.478	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			47	36	47	36	---	---	---	---
MOCS1	4337	broad.mit.edu	37	6	39874178	39874178	+	Silent	SNP	G	G	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr6:39874178G>C	ENST00000340692.5	-	11	1869	c.1866C>G	c.(1864-1866)ctC>ctG	p.L622L	MOCS1_ENST00000373186.4_3'UTR|MOCS1_ENST00000373195.3_Silent_p.L519L|MOCS1_ENST00000373188.2_3'UTR|MOCS1_ENST00000425303.2_Silent_p.L622L|MOCS1_ENST00000308559.7_Silent_p.L606L|MOCS1_ENST00000373175.4_3'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	622	Molybdenum cofactor biosynthesis protein C.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)	p.L622L(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					TCTTGCTAATGAGCTTGATCT	0.602																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)	uc003opb.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|liver(1)|central_nervous_system(1)	3						c.(1864-1866)CTC>CTG		molybdenum cofactor synthesis-step 1 protein							122.0	118.0	119.0					6																	39874178		2203	4300	6503	SO:0001819	synonymous_variant	4337				Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	g.chr6:39874178G>C	AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.1866C>G	6.37:g.39874178G>C						MOCS1_uc003opa.2_3'UTR|MOCS1_uc003opc.2_Silent_p.L606L|MOCS1_uc003opd.2_3'UTR|MOCS1_uc003ope.2_Silent_p.L519L	p.L622L	NM_005942	NP_005933	Q9NZB8	MOCS1_HUMAN			10	2004	-	Ovarian(28;0.0355)|Colorectal(47;0.196)		622			Molybdenum cofactor biosynthesis protein C.		B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	ENST00000340692.5	37	c.1866C>G																																																																																					PASS	0.602	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000040476.2	NM_005943		103	59	103	59	---	---	---	---
GPR110	266977	broad.mit.edu	37	6	46977155	46977155	+	Silent	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr6:46977155G>A	ENST00000371253.2	-	11	2231	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.F475F	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	672					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F672F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GCATCCAGAAGAACAAAGAGA	0.502																																						uc003oyt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(2014-2016)TTC>TTT		G-protein coupled receptor 110 isoform 1							87.0	77.0	81.0					6																	46977155		2203	4300	6503	SO:0001819	synonymous_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46977155G>A	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2016C>T	6.37:g.46977155G>A						GPR110_uc011dwl.1_Silent_p.F360F	p.F672F	NM_153840	NP_722582	Q5T601	GP110_HUMAN			11	2215	-			672			Helical; Name=3; (Potential).		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	c.2016C>T	CCDS34471.1																																																																																				PASS	0.502	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		18	9	18	9	---	---	---	---
COL9A1	1297	broad.mit.edu	37	6	70970387	70970387	+	Silent	SNP	G	G	T	rs540419799		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr6:70970387G>T	ENST00000357250.6	-	20	1580	c.1422C>A	c.(1420-1422)acC>acA	p.T474T	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Silent_p.T231T|COL9A1_ENST00000320755.7_Silent_p.T231T	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	474	Collagen-like 5.|Triple-helical region (COL2).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.T474T(1)|p.T231T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CAACTATGCCGGTGATGCCTC	0.348																																						uc003pfg.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(1420-1422)ACC>ACA		alpha 1 type IX collagen isoform 1 precursor							62.0	62.0	62.0					6																	70970387		2203	4300	6503	SO:0001819	synonymous_variant	1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:70970387G>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.1422C>A	6.37:g.70970387G>T						COL9A1_uc003pfe.3_Silent_p.T47T|COL9A1_uc003pff.3_Silent_p.T231T	p.T474T	NM_001851	NP_001842	P20849	CO9A1_HUMAN			20	1581	-			474			Triple-helical region (COL2).		Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	ENST00000357250.6	37	c.1422C>A	CCDS4971.1																																																																																				PASS	0.348	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			31	18	31	18	---	---	---	---
BEND3	57673	broad.mit.edu	37	6	107391717	107391717	+	Silent	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr6:107391717G>A	ENST00000369042.1	-	4	868	c.678C>T	c.(676-678)cgC>cgT	p.R226R	BEND3_ENST00000429433.2_Silent_p.R226R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	226								p.R226R(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCTTCTTGATGCGGCTCACCT	0.572																																						uc003prs.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(676-678)CGC>CGT		BEN domain containing 3							100.0	79.0	86.0					6																	107391717		2203	4300	6503	SO:0001819	synonymous_variant	57673							g.chr6:107391717G>A	AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.678C>T	6.37:g.107391717G>A							p.R226R	NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN			5	1328	-			226					A2RRH2|Q9HCL9	Silent	SNP	ENST00000369042.1	37	c.678C>T	CCDS34507.1																																																																																				PASS	0.572	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041686.1	NM_020913		46	24	46	24	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18674283	18674283	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:18674283G>T	ENST00000432645.2	+	7	821	c.821G>T	c.(820-822)gGt>gTt	p.G274V	HDAC9_ENST00000406451.4_Missense_Mutation_p.G274V|HDAC9_ENST00000405010.3_Missense_Mutation_p.G274V|HDAC9_ENST00000417496.2_Missense_Mutation_p.G272V|HDAC9_ENST00000456174.2_Missense_Mutation_p.G246V|HDAC9_ENST00000406072.1_Missense_Mutation_p.G261V|HDAC9_ENST00000441542.2_Missense_Mutation_p.G277V|HDAC9_ENST00000428307.2_Missense_Mutation_p.G230V|HDAC9_ENST00000401921.1_Missense_Mutation_p.G233V|HDAC9_ENST00000524023.1_Missense_Mutation_p.G197V	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	274	Interaction with MAPK10. {ECO:0000250}.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G277V(2)|p.G274V(1)|p.G272V(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCAGGCTCTGGTCCCAGTTCA	0.423																																						uc003suh.2																			4	Substitution - Missense(4)		lung(4)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.(820-822)GGT>GTT		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						75.0	74.0	75.0					7																	18674283		1886	4101	5987	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18674283G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.821G>T	7.37:g.18674283G>T	ENSP00000410337:p.Gly274Val					HDAC9_uc003sue.2_Missense_Mutation_p.G274V|HDAC9_uc011jyd.1_Missense_Mutation_p.G274V|HDAC9_uc003sui.2_Missense_Mutation_p.G277V|HDAC9_uc003suj.2_Missense_Mutation_p.G233V|HDAC9_uc011jya.1_Missense_Mutation_p.G271V|HDAC9_uc003sua.1_Missense_Mutation_p.G252V|HDAC9_uc011jyb.1_Missense_Mutation_p.G230V|HDAC9_uc003sud.1_Missense_Mutation_p.G274V|HDAC9_uc011jyc.1_Missense_Mutation_p.G233V|HDAC9_uc003suf.1_Missense_Mutation_p.G305V|HDAC9_uc010kud.1_Missense_Mutation_p.G277V|HDAC9_uc011jye.1_Missense_Mutation_p.G246V|HDAC9_uc011jyf.1_Missense_Mutation_p.G197V|HDAC9_uc010kue.1_Missense_Mutation_p.G17V	p.G274V	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			7	862	+	all_lung(11;0.187)		274			Interaction with MAPK10 (By similarity).		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.821G>T	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902288	0.72754	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.70282	-0.22;0.31;-0.11;-0.21;-0.24;-0.47;-0.11;-0.1;0.29;-0.19	5.51	5.51	0.81932	.	0.000000	0.56097	D	0.000022	D	0.86121	0.5857	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999;1.0;0.998;1.0;1.0;0.984;0.998;1.0;1.0;0.999	D	0.85547	0.1219	10	0.39692	T	0.17	-25.9073	19.415	0.94690	0.0:0.0:1.0:0.0	.	197;246;274;261;272;274;277;233;277;274;246;274;274;252	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	V	272;275;274;274;230;261;233;274;277;246;197;274	ENSP00000401669:G272V;ENSP00000384382:G274V;ENSP00000384657:G274V;ENSP00000395655:G230V;ENSP00000384017:G261V;ENSP00000383912:G233V;ENSP00000410337:G274V;ENSP00000408617:G277V;ENSP00000388568:G246V;ENSP00000430036:G197V	ENSP00000262069:G275V	G	+	2	0	HDAC9	18640808	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.230000	0.95299	2.600000	0.87896	0.650000	0.86243	GGT		PASS	0.423	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			10	10	10	10	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21639577	21639577	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:21639577A>T	ENST00000409508.3	+	15	2871	c.2840A>T	c.(2839-2841)cAa>cTa	p.Q947L	DNAH11_ENST00000328843.6_Missense_Mutation_p.Q947L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	947	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.Q947L(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTCAAGCACAAATGATCTTG	0.403									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2839-2841)CAA>CTA		dynein, axonemal, heavy chain 11							88.0	83.0	85.0					7																	21639577		1847	4091	5938	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639577A>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2840A>T	7.37:g.21639577A>T	ENSP00000475939:p.Gln947Leu						p.Q947L	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	2871	+			947			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2840A>T		.	.	.	.	.	.	.	.	.	.	A	18.51	3.638668	0.67130	.	.	ENSG00000105877	ENST00000328843	T	0.23950	1.88	5.5	5.5	0.81552	.	0.342203	0.30177	N	0.010233	T	0.28830	0.0715	.	.	.	0.58432	D	0.999999	D	0.53151	0.958	P	0.45343	0.477	T	0.01909	-1.1249	9	0.33940	T	0.23	.	15.5615	0.76253	1.0:0.0:0.0:0.0	.	947	Q96DT5	DYH11_HUMAN	L	947	ENSP00000330671:Q947L	ENSP00000330671:Q947L	Q	+	2	0	DNAH11	21606102	1.000000	0.71417	0.998000	0.56505	0.471000	0.32888	6.713000	0.74686	2.219000	0.72066	0.533000	0.62120	CAA		PASS	0.403	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		15	53	15	53	---	---	---	---
NEUROD6	63974	broad.mit.edu	37	7	31378049	31378049	+	Silent	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:31378049G>T	ENST00000297142.3	-	2	1156	c.834C>A	c.(832-834)acC>acA	p.T278T		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	278					cell differentiation (GO:0030154)|dentate gyrus development (GO:0021542)	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)	p.T278T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CATAGTCCAAGGTTTCTTCTT	0.493																																						uc003tch.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(832-834)ACC>ACA		neurogenic differentiation 6							85.0	85.0	85.0					7																	31378049		2203	4300	6503	SO:0001819	synonymous_variant	63974				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:31378049G>T	AF248954	CCDS5434.1	7p15.1	2013-05-21	2012-02-22		ENSG00000164600	ENSG00000164600		"""Basic helix-loop-helix proteins"""	13804	protein-coding gene	gene with protein product		611513	"""neurogenic differentiation 6"""			12357074	Standard	NM_022728		Approved	Atoh2, NEX1M, Math-2, bHLHa2, Nex1	uc003tch.4	Q96NK8	OTTHUMG00000022865	ENST00000297142.3:c.834C>A	7.37:g.31378049G>T							p.T278T	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN			2	1187	-			278					Q548T9|Q9H3H6	Silent	SNP	ENST00000297142.3	37	c.834C>A	CCDS5434.1																																																																																				PASS	0.493	NEUROD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215050.1	NM_022728		66	66	66	66	---	---	---	---
TBL2	26608	broad.mit.edu	37	7	72985210	72985210	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:72985210C>A	ENST00000305632.5	-	7	1212	c.971G>T	c.(970-972)gGc>gTc	p.G324V	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Missense_Mutation_p.G288V	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	324							poly(A) RNA binding (GO:0044822)	p.G324V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCAAAGCGGCCTGTCTTCAG	0.582																																						uc003tyh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(970-972)GGC>GTC		transducin (beta)-like 2							73.0	71.0	72.0					7																	72985210		2203	4299	6502	SO:0001583	missense	26608							g.chr7:72985210C>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.971G>T	7.37:g.72985210C>A	ENSP00000307260:p.Gly324Val					TBL2_uc011kex.1_Missense_Mutation_p.G288V|TBL2_uc010lbg.2_Missense_Mutation_p.G229V|TBL2_uc003tyi.2_Missense_Mutation_p.G159V|TBL2_uc011key.1_Missense_Mutation_p.G195V|TBL2_uc010lbh.2_Missense_Mutation_p.G229V	p.G324V	NM_012453	NP_036585	Q9Y4P3	TBL2_HUMAN			7	1105	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	324					Q9UQE2	Missense_Mutation	SNP	ENST00000305632.5	37	c.971G>T	CCDS5551.1	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685063	0.68157	.	.	ENSG00000106638	ENST00000305632;ENST00000541783;ENST00000432538	T;T	0.26957	1.7;1.7	5.98	5.98	0.97165	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048272	0.85682	D	0.000000	T	0.20780	0.0500	L	0.56280	1.765	0.80722	D	1	P;P	0.44241	0.829;0.829	B;B	0.36289	0.221;0.221	T	0.03000	-1.1084	10	0.14656	T	0.56	-34.1188	11.2284	0.48897	0.0:0.9173:0.0:0.0827	.	288;324	E9PF19;Q9Y4P3	.;TBL2_HUMAN	V	324;324;288	ENSP00000307260:G324V;ENSP00000413979:G288V	ENSP00000307260:G324V	G	-	2	0	TBL2	72623146	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.864000	0.69575	2.833000	0.97629	0.655000	0.94253	GGC		PASS	0.582	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		27	83	27	83	---	---	---	---
GRM3	2913	broad.mit.edu	37	7	86415870	86415870	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:86415870G>T	ENST00000361669.2	+	3	1861	c.762G>T	c.(760-762)aaG>aaT	p.K254N	GRM3_ENST00000439827.1_Missense_Mutation_p.K254N|GRM3_ENST00000394720.2_Missense_Mutation_p.K252N|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.K126N|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	254					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)	p.K254N(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACATCCGCAAGTCCTACGACA	0.632																																					GBM(52;969 1098 3139 52280)	uc003uid.2																			1	Substitution - Missense(1)		lung(1)	lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	13						c.(760-762)AAG>AAT		glutamate receptor, metabotropic 3 precursor	Acamprosate(DB00659)|Nicotine(DB00184)						47.0	49.0	49.0					7																	86415870		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86415870G>T		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.762G>T	7.37:g.86415870G>T	ENSP00000355316:p.Lys254Asn					GRM3_uc010lef.2_Missense_Mutation_p.K252N|GRM3_uc010leg.2_Missense_Mutation_p.K126N|GRM3_uc010leh.2_Intron	p.K254N	NM_000840	NP_000831	Q14832	GRM3_HUMAN			3	1861	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		254			Extracellular (Potential).		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.762G>T	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.728741	0.48833	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73	6.07	3.27	0.37495	Extracellular ligand-binding receptor (1);	0.108379	0.64402	D	0.000013	T	0.71753	0.3377	L	0.43152	1.355	0.58432	D	0.999992	B;B;B	0.33280	0.099;0.405;0.051	B;B;B	0.29176	0.047;0.099;0.049	T	0.61783	-0.6992	10	0.22706	T	0.39	.	7.6205	0.28183	0.2014:0.1204:0.6781:0.0	.	126;254;254	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	N	254;126;126;254;252	ENSP00000355316:K254N;ENSP00000405427:K126N;ENSP00000441407:K126N;ENSP00000398767:K254N;ENSP00000378209:K252N	ENSP00000355316:K254N	K	+	3	2	GRM3	86253806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.504000	0.35726	0.435000	0.26365	0.655000	0.94253	AAG		PASS	0.632	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			27	41	27	41	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88964707	88964707	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:88964707G>T	ENST00000333190.4	+	4	3020	c.2411G>T	c.(2410-2412)tGc>tTc	p.C804F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	804							metal ion binding (GO:0046872)	p.C804F(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)			TATTGTCACTGCAGAGAAAGA	0.358										HNSCC(36;0.09)																												uc011khi.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(2410-2412)TGC>TTC		zinc finger protein 804B							43.0	44.0	44.0					7																	88964707		2201	4299	6500	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964707G>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.2411G>T	7.37:g.88964707G>T	ENSP00000329638:p.Cys804Phe	HNSCC(36;0.09)					p.C804F	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	2949	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		804					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2411G>T	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	8.207	0.799556	0.16397	.	.	ENSG00000182348	ENST00000333190	T	0.04970	3.52	4.95	2.92	0.33932	.	0.630262	0.16597	N	0.207516	T	0.04634	0.0126	L	0.29908	0.895	0.09310	N	1	B	0.12630	0.006	B	0.12156	0.007	T	0.33007	-0.9885	10	0.62326	D	0.03	-2.419	3.2558	0.06831	0.151:0.0:0.3874:0.4616	.	804	A4D1E1	Z804B_HUMAN	F	804	ENSP00000329638:C804F	ENSP00000329638:C804F	C	+	2	0	ZNF804B	88802643	0.000000	0.05858	0.008000	0.14137	0.009000	0.06853	0.759000	0.26461	1.265000	0.44215	0.655000	0.94253	TGC		PASS	0.358	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		34	50	34	50	---	---	---	---
HEPACAM2	253012	broad.mit.edu	37	7	92844914	92844914	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:92844914A>G	ENST00000394468.2	-	3	592	c.515T>C	c.(514-516)gTg>gCg	p.V172A	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.V160A|HEPACAM2_ENST00000440868.1_Missense_Mutation_p.V160A|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.V195A	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	172	Ig-like C2-type 1.				centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|midbody (GO:0030496)|spindle (GO:0005819)		p.V172A(1)|p.V160A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GCCCCCTTCCACATGGCATGT	0.507																																						uc003umm.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)|kidney(1)	5						c.(514-516)GTG>GCG		HEPACAM family member 2 isoform 1							107.0	100.0	102.0					7																	92844914		2203	4300	6503	SO:0001583	missense	253012					integral to membrane		g.chr7:92844914A>G	AK096002	CCDS5629.1, CCDS43616.1, CCDS75631.1, CCDS75632.1	7q21.3	2013-01-29	2008-07-11		ENSG00000188175	ENSG00000188175		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27364	protein-coding gene	gene with protein product		614133				12975309	Standard	NM_001288804		Approved	FLJ38683	uc003umm.3	A8MVW5	OTTHUMG00000131732	ENST00000394468.2:c.515T>C	7.37:g.92844914A>G	ENSP00000377980:p.Val172Ala					HEPACAM2_uc003uml.2_Missense_Mutation_p.V160A|HEPACAM2_uc010lff.2_Missense_Mutation_p.V160A|HEPACAM2_uc011khy.1_Missense_Mutation_p.V195A	p.V172A	NM_001039372	NP_001034461	A8MVW5	HECA2_HUMAN			3	538	-			172			Ig-like C2-type 1.|Extracellular (Potential).		B3KTT4|B4DPJ1|B9EG93|E9PDV5|Q6UXI0	Missense_Mutation	SNP	ENST00000394468.2	37	c.515T>C	CCDS43616.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.570014	0.28003	.	.	ENSG00000188175	ENST00000394468;ENST00000341723;ENST00000440868;ENST00000453812	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.165132	0.53938	D	0.000055	T	0.69691	0.3139	L	0.28192	0.835	0.43729	D	0.996213	D;P;D;P	0.58970	0.984;0.905;0.966;0.907	P;P;P;B	0.54401	0.721;0.751;0.646;0.28	T	0.66337	-0.5949	10	0.02654	T	1	-13.4701	16.0751	0.80962	1.0:0.0:0.0:0.0	.	195;160;172;160	E9PDV5;C9JN07;A8MVW5;A8MVW5-2	.;.;HECA2_HUMAN;.	A	172;160;160;195	ENSP00000377980:V172A;ENSP00000340532:V160A;ENSP00000389592:V160A;ENSP00000390204:V195A	ENSP00000340532:V160A	V	-	2	0	HEPACAM2	92682850	0.944000	0.32072	0.661000	0.29709	0.821000	0.46438	4.038000	0.57318	2.261000	0.74972	0.482000	0.46254	GTG		PASS	0.507	HEPACAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254651.1	NM_198151		48	48	48	48	---	---	---	---
TRRAP	8295	broad.mit.edu	37	7	98546248	98546248	+	Silent	SNP	A	A	G	rs531306029		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:98546248A>G	ENST00000359863.4	+	34	4916	c.4707A>G	c.(4705-4707)acA>acG	p.T1569T	TRRAP_ENST00000355540.3_Silent_p.T1551T|TRRAP_ENST00000446306.3_Silent_p.T1550T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1569					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)	p.T1569T(1)|p.T1551T(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCGCAGACAGTGGAGCTGT	0.532													A|||	1	0.000199681	0.0008	0.0	5008	,	,		18253	0.0		0.0	False		,,,				2504	0.0					uc003upp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(4705-4707)ACA>ACG		transformation/transcription domain-associated							125.0	114.0	118.0					7																	98546248		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98546248A>G	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.4707A>G	7.37:g.98546248A>G						TRRAP_uc011kis.1_Silent_p.T1551T|TRRAP_uc003upr.2_Silent_p.T1268T	p.T1569T	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		34	4916	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		1569					A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.4707A>G	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	4.669	0.124351	0.08931	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.53	-11.1	0.00147	.	.	.	.	.	T	0.30293	0.0760	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39840	-0.9594	4	.	.	.	.	0.6503	0.00825	0.3576:0.133:0.1965:0.3129	.	.	.	.	R	1291	.	.	Q	+	2	0	TRRAP	98384184	0.000000	0.05858	0.405000	0.26409	0.517000	0.34286	-1.991000	0.01478	-1.961000	0.01016	-3.228000	0.00052	CAG		PASS	0.532	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		41	119	41	119	---	---	---	---
CCDC136	64753	broad.mit.edu	37	7	128446399	128446399	+	Missense_Mutation	SNP	C	C	T	rs368845976		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:128446399C>T	ENST00000297788.4	+	8	1565	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	400						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.R400W(2)|p.R516W(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GACTGAGCTCCGGCAGCTCAA	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20768	0.0		0.0	False		,,,				2504	0.0					uc003vnv.1																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1198-1200)CGG>TGG		coiled-coil domain containing 136		C	,TRP/ARG	0,3930		0,0,1965	32.0	32.0	32.0		,1198	5.7	1.0	7		32	1,8319		0,1,4159	no	intron,missense	CCDC136	NM_001201372.1,NM_022742.4	,101	0,1,6124	TT,TC,CC		0.012,0.0,0.0082	,probably-damaging	,400/1155	128446399	1,12249	1965	4160	6125	SO:0001583	missense	64753					integral to membrane	protein binding	g.chr7:128446399C>T		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1198C>T	7.37:g.128446399C>T	ENSP00000297788:p.Arg400Trp					CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.R216W|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_Missense_Mutation_p.R10W	p.R400W	NM_022742	NP_073579	Q96JN2	CC136_HUMAN			8	1565	+			400					A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	37	c.1198C>T	CCDS47704.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.400221	0.83120	0.0	1.2E-4	ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524	T	0.41758	0.99	5.71	5.71	0.89125	.	0.360128	0.22845	N	0.054939	T	0.56156	0.1966	L	0.54323	1.7	0.32688	N	0.514618	D;D	0.76494	0.999;0.999	P;P	0.59288	0.855;0.855	T	0.66320	-0.5953	10	0.72032	D	0.01	-11.4968	15.3547	0.74418	0.0:1.0:0.0:0.0	.	400;400	Q96JN2-2;Q96JN2	.;CC136_HUMAN	W	400	ENSP00000297788:R400W	ENSP00000297788:R400W	R	+	1	2	CCDC136	128233635	0.644000	0.27277	0.998000	0.56505	0.610000	0.37248	2.143000	0.42187	2.697000	0.92050	0.655000	0.94253	CGG		PASS	0.483	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742		10	11	10	11	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137237168	137237168	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:137237168C>A	ENST00000288490.5	-	20	2094	c.2094G>T	c.(2092-2094)caG>caT	p.Q698H	DGKI_ENST00000446122.1_Missense_Mutation_p.Q698H|DGKI_ENST00000424189.2_Missense_Mutation_p.Q698H|DGKI_ENST00000453654.2_Missense_Mutation_p.Q398H	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	698					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.Q698H(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						CCATGTTGGCCTGATTCCTCA	0.493																																						uc003vtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(2092-2094)CAG>CAT		diacylglycerol kinase, iota							172.0	137.0	149.0					7																	137237168		2203	4300	6503	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137237168C>A	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2094G>T	7.37:g.137237168C>A	ENSP00000288490:p.Gln698His					DGKI_uc003vtu.2_Missense_Mutation_p.Q398H	p.Q698H	NM_004717	NP_004708	O75912	DGKI_HUMAN			20	2095	-			698					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.2094G>T	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672406	0.67928	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.45276	1.51;0.9;1.1	5.66	2.83	0.33086	.	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.58053	-0.7704	10	0.59425	D	0.04	.	9.9144	0.41425	0.0:0.6934:0.0:0.3066	.	398;698	E9PFX6;O75912	.;DGKI_HUMAN	H	398;646;698;698;698	ENSP00000392161:Q398H;ENSP00000288490:Q698H;ENSP00000399131:Q698H	ENSP00000288490:Q698H	Q	-	3	2	DGKI	136887708	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.341000	0.52151	0.393000	0.25203	-0.136000	0.14681	CAG		PASS	0.493	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		90	97	90	97	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137266637	137266637	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:137266637C>G	ENST00000288490.5	-	15	1601	c.1601G>C	c.(1600-1602)gGa>gCa	p.G534A	DGKI_ENST00000446122.1_Missense_Mutation_p.G534A|DGKI_ENST00000424189.2_Missense_Mutation_p.G534A|DGKI_ENST00000453654.2_Missense_Mutation_p.G234A	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	534					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.G534A(2)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GGCATCAAATCCAAGGCTGAA	0.443																																						uc003vtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|kidney(1)|skin(1)	3						c.(1600-1602)GGA>GCA		diacylglycerol kinase, iota							119.0	117.0	118.0					7																	137266637		2203	4299	6502	SO:0001583	missense	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137266637C>G	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.1601G>C	7.37:g.137266637C>G	ENSP00000288490:p.Gly534Ala					DGKI_uc003vtu.2_Missense_Mutation_p.G234A	p.G534A	NM_004717	NP_004708	O75912	DGKI_HUMAN			15	1602	-			534					A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	c.1601G>C	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892687	0.91889	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	D;D;D	0.88975	-2.45;-2.45;-2.45	5.6	5.6	0.85130	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	D	0.96367	0.8815	H	0.94771	3.58	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.96927	0.9678	10	0.87932	D	0	.	19.5926	0.95522	0.0:1.0:0.0:0.0	.	234;534	E9PFX6;O75912	.;DGKI_HUMAN	A	234;482;534;534;534	ENSP00000392161:G234A;ENSP00000288490:G534A;ENSP00000399131:G534A	ENSP00000288490:G534A	G	-	2	0	DGKI	136917177	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.621000	0.83083	2.788000	0.95919	0.650000	0.86243	GGA		PASS	0.443	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		38	51	38	51	---	---	---	---
EPHB6	2051	broad.mit.edu	37	7	142561730	142561730	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:142561730G>T	ENST00000392957.2	+	7	959	c.172G>T	c.(172-174)Gag>Tag	p.E58*	EPHB6_ENST00000442129.1_Nonsense_Mutation_p.E58*|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	58	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.E43*(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCAGTGGGACGAGGTGAGTGT	0.592																																						uc011kst.1																			1	Substitution - Nonsense(1)		lung(1)	lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1)	19						c.(172-174)GAG>TAG		ephrin receptor EphB6 precursor							119.0	128.0	125.0					7																	142561730		2202	4297	6499	SO:0001587	stop_gained	2051					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561730G>T	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.172G>T	7.37:g.142561730G>T	ENSP00000376684:p.Glu58*					EPHB6_uc011ksu.1_Nonsense_Mutation_p.E58*|EPHB6_uc003wbs.2_5'UTR|EPHB6_uc003wbt.2_5'UTR|EPHB6_uc003wbu.2_5'UTR	p.E58*	NM_004445	NP_004436	O15197	EPHB6_HUMAN			7	959	+	Melanoma(164;0.059)		58			Extracellular (Potential).		A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Nonsense_Mutation	SNP	ENST00000392957.2	37	c.172G>T	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	45	11.806597	0.99605	.	.	ENSG00000106123	ENST00000392957;ENST00000442129	.	.	.	5.45	5.45	0.79879	.	0.000000	0.45867	D	0.000331	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.275	0.90080	0.0:0.0:1.0:0.0	.	.	.	.	X	58	.	ENSP00000376684:E58X	E	+	1	0	EPHB6	142271852	1.000000	0.71417	0.977000	0.42913	0.971000	0.66376	7.937000	0.87672	2.548000	0.85928	0.650000	0.86243	GAG		PASS	0.592	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			4	299	4	299	---	---	---	---
ZNF746	155061	broad.mit.edu	37	7	149172312	149172312	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr7:149172312C>G	ENST00000340622.3	-	7	1378	c.1098G>C	c.(1096-1098)gaG>gaC	p.E366D	ZNF746_ENST00000458143.2_Missense_Mutation_p.E367D			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	366					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)	p.E366D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CAGGAGGGGTCTCCTCCTGGG	0.701																																						uc003wfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1096-1098)GAG>GAC		zinc finger protein 746 isoform 2							14.0	17.0	16.0					7																	149172312		2203	4298	6501	SO:0001583	missense	155061				negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr7:149172312C>G	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1098G>C	7.37:g.149172312C>G	ENSP00000345140:p.Glu366Asp					ZNF746_uc010lpi.2_Missense_Mutation_p.E367D	p.E366D	NM_152557	NP_689770	Q6NUN9	ZN746_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00358)		7	1369	-	Melanoma(164;0.165)		366					A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	37	c.1098G>C	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	C	15.41	2.824123	0.50739	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.08807	3.08;3.05	4.63	-2.32	0.06745	.	0.500668	0.16654	N	0.205094	T	0.03871	0.0109	N	0.14661	0.345	0.19775	N	0.999958	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32455	-0.9906	10	0.66056	D	0.02	-15.583	4.342	0.11115	0.0:0.3255:0.3179:0.3566	.	367;366	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	D	366;367	ENSP00000345140:E366D;ENSP00000395007:E367D	ENSP00000345140:E366D	E	-	3	2	ZNF746	148803245	0.000000	0.05858	0.328000	0.25416	0.994000	0.84299	-1.634000	0.02020	-0.187000	0.10516	0.563000	0.77884	GAG		PASS	0.701	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557		23	36	23	36	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	4494992	4494992	+	Silent	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr8:4494992G>A	ENST00000520002.1	-	2	729	c.174C>T	c.(172-174)tgC>tgT	p.C58C	CSMD1_ENST00000542608.1_Silent_p.C58C|CSMD1_ENST00000539096.1_Silent_p.C58C|CSMD1_ENST00000400186.3_Silent_p.C58C|CSMD1_ENST00000602557.1_Silent_p.C58C|CSMD1_ENST00000602723.1_Silent_p.C58C|CSMD1_ENST00000537824.1_Silent_p.C58C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	58	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)		p.C58C(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGATCCAGGTGCAGTTGGCAT	0.478																																						uc011kwk.1																			1	Substitution - coding silent(1)		lung(1)	breast(20)|large_intestine(5)	25						c.(172-174)TGC>TGT		CUB and Sushi multiple domains 1 precursor							113.0	115.0	114.0					8																	4494992		1955	4167	6122	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:4494992G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.174C>T	8.37:g.4494992G>A							p.C58C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	2	564	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	58			Extracellular (Potential).|CUB 1.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.174C>T																																																																																					PASS	0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		32	68	32	68	---	---	---	---
MYBL1	4603	broad.mit.edu	37	8	67507919	67507919	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr8:67507919C>T	ENST00000522677.3	-	6	996	c.586G>A	c.(586-588)Gat>Aat	p.D196N	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Missense_Mutation_p.D196N	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	196					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.D196N(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTTATTCCATCTTGTAAATAG	0.343																																						uc003xwj.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(586-588)GAT>AAT		v-myb myeloblastosis viral oncogene homolog							185.0	169.0	174.0					8																	67507919		1848	4087	5935	SO:0001583	missense	4603				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr8:67507919C>T	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.586G>A	8.37:g.67507919C>T	ENSP00000429633:p.Asp196Asn					MYBL1_uc003xwl.2_Missense_Mutation_p.D196N|MYBL1_uc003xwk.2_Missense_Mutation_p.D196N	p.D196N	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)		6	993	-			196					E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	37	c.586G>A	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.749569	0.69533	.	.	ENSG00000185697	ENST00000522677;ENST00000524176	T;T	0.18016	2.73;2.24	5.51	5.51	0.81932	.	0.048605	0.85682	D	0.000000	T	0.10035	0.0246	N	0.05124	-0.11	0.54753	D	0.999987	B;B;B	0.27594	0.026;0.025;0.182	B;B;B	0.29440	0.063;0.029;0.102	T	0.31081	-0.9956	10	0.29301	T	0.29	-18.8073	14.9424	0.71003	0.0:0.9292:0.0:0.0708	.	196;196;196	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	N	196	ENSP00000429633:D196N;ENSP00000428011:D196N	ENSP00000429633:D196N	D	-	1	0	MYBL1	67670473	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.627000	0.61276	2.750000	0.94351	0.655000	0.94253	GAT		PASS	0.343	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274		7	11	7	11	---	---	---	---
DCAF4L2	138009	broad.mit.edu	37	8	88885742	88885742	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr8:88885742G>T	ENST00000319675.3	-	1	554	c.458C>A	c.(457-459)cCa>cAa	p.P153Q		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	153								p.P153Q(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GGCACAGCTTGGAGTATCTGC	0.552																																						uc003ydz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(457-459)CCA>CAA		WD repeat domain 21C							95.0	89.0	91.0					8																	88885742		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885742G>T	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.458C>A	8.37:g.88885742G>T	ENSP00000316496:p.Pro153Gln						p.P153Q	NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN			1	555	-			153						Missense_Mutation	SNP	ENST00000319675.3	37	c.458C>A	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	9.127	1.010372	0.19277	.	.	ENSG00000176566	ENST00000319675	T	0.70869	-0.52	1.68	0.74	0.18330	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.049307	0.85682	D	0.000000	T	0.75095	0.3803	M	0.71581	2.175	0.09310	N	0.999999	D	0.56746	0.977	P	0.62649	0.905	T	0.63047	-0.6724	10	0.40728	T	0.16	.	4.0474	0.09779	0.2416:0.0:0.7584:0.0	.	153	Q8NA75	DC4L2_HUMAN	Q	153	ENSP00000316496:P153Q	ENSP00000316496:P153Q	P	-	2	0	DCAF4L2	88954858	1.000000	0.71417	0.002000	0.10522	0.011000	0.07611	2.384000	0.44362	0.049000	0.15920	0.467000	0.42956	CCA		PASS	0.552	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		63	37	63	37	---	---	---	---
TBC1D31	93594	broad.mit.edu	37	8	124157050	124157050	+	Nonsense_Mutation	SNP	G	G	T	rs147130740		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr8:124157050G>T	ENST00000287380.1	+	20	3019	c.2929G>T	c.(2929-2931)Gag>Tag	p.E977*	TBC1D31_ENST00000518805.1_Nonsense_Mutation_p.E531*|TBC1D31_ENST00000521676.1_Nonsense_Mutation_p.E854*|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000522420.1_Nonsense_Mutation_p.E872*|TBC1D31_ENST00000309336.3_Nonsense_Mutation_p.E912*|TBC1D31_ENST00000327098.5_Nonsense_Mutation_p.E881*	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	977						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)	p.E977*(1)									TTTAAAGCAAGAGATAAATGC	0.388																																						uc003ypp.1																			1	Substitution - Nonsense(1)		lung(1)	skin(1)	1						c.(2929-2931)GAG>TAG		WD repeat domain 67 isoform 1							80.0	81.0	80.0					8																	124157050		2203	4300	6503	SO:0001587	stop_gained	93594					centrosome	Rab GTPase activator activity	g.chr8:124157050G>T	AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.2929G>T	8.37:g.124157050G>T	ENSP00000287380:p.Glu977*					WDR67_uc011lig.1_Nonsense_Mutation_p.E881*|WDR67_uc011lih.1_Nonsense_Mutation_p.E867*|WDR67_uc003ypq.1_RNA|WDR67_uc003yps.1_Nonsense_Mutation_p.E611*|WDR67_uc003ypt.1_Nonsense_Mutation_p.E369*|WDR67_uc003ypu.1_Nonsense_Mutation_p.E369*	p.E977*	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		20	3019	+	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		977					B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Nonsense_Mutation	SNP	ENST00000287380.1	37	c.2929G>T	CCDS6338.1	.	.	.	.	.	.	.	.	.	.	G	34	5.366828	0.95900	.	.	ENSG00000156787	ENST00000287380;ENST00000309336;ENST00000327098;ENST00000522420;ENST00000521676;ENST00000518805	.	.	.	5.13	4.25	0.50352	.	0.421405	0.24162	N	0.040975	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-18.7123	13.2288	0.59929	0.0:0.1766:0.8234:0.0	.	.	.	.	X	977;912;881;872;854;531	.	ENSP00000287380:E977X	E	+	1	0	WDR67	124226231	1.000000	0.71417	0.092000	0.20876	0.005000	0.04900	3.766000	0.55280	1.453000	0.47775	0.591000	0.81541	GAG		PASS	0.388	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381721.1	NM_145647		46	31	46	31	---	---	---	---
TG	7038	broad.mit.edu	37	8	133899340	133899340	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr8:133899340C>T	ENST00000220616.4	+	9	1763	c.1723C>T	c.(1723-1725)Cca>Tca	p.P575S	TG_ENST00000377869.1_Missense_Mutation_p.P575S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	575					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.P575S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTGGAGCTTCCAGAATTCCT	0.453																																						uc003ytw.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15						c.(1723-1725)CCA>TCA		thyroglobulin precursor							104.0	100.0	101.0					8																	133899340		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133899340C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1723C>T	8.37:g.133899340C>T	ENSP00000220616:p.Pro575Ser						p.P575S	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	9	1764	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	575					O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.1723C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671010	0.67814	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.66099	-0.19;-0.18	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000005	T	0.59609	0.2206	L	0.32530	0.975	0.28505	N	0.913825	D	0.56521	0.976	P	0.49799	0.622	T	0.61008	-0.7149	10	0.87932	D	0	.	13.63	0.62189	0.0:0.845:0.155:0.0	.	575	P01266	THYG_HUMAN	S	575	ENSP00000367100:P575S;ENSP00000220616:P575S	ENSP00000220616:P575S	P	+	1	0	TG	133968522	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.158000	0.50723	2.711000	0.92665	0.650000	0.86243	CCA		PASS	0.453	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235		6	100	6	100	---	---	---	---
FAM214B	80256	broad.mit.edu	37	9	35105947	35105947	+	Silent	SNP	G	G	T	rs200514648		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr9:35105947G>T	ENST00000378561.1	-	6	4333	c.1278C>A	c.(1276-1278)acC>acA	p.T426T	FAM214B_ENST00000605244.1_Silent_p.T426T|FAM214B_ENST00000378557.1_Silent_p.T426T|FAM214B_ENST00000378554.2_Silent_p.T426T|FAM214B_ENST00000322813.5_Silent_p.T426T|FAM214B_ENST00000488109.2_Silent_p.T426T|FAM214B_ENST00000605392.1_5'Flank|FAM214B_ENST00000378566.1_Silent_p.T121T|STOML2_ENST00000452248.2_5'Flank|FAM214B_ENST00000603301.1_Silent_p.T426T|STOML2_ENST00000356493.5_5'Flank			Q7L5A3	F214B_HUMAN	family with sequence similarity 214, member B	426						nucleus (GO:0005634)		p.T426T(1)									CCACTTGGACGGTGCCCACCT	0.597																																						uc003zwl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1276-1278)ACC>ACA		hypothetical protein LOC80256							75.0	67.0	70.0					9																	35105947		2203	4300	6503	SO:0001819	synonymous_variant	80256					nucleus		g.chr9:35105947G>T	AB040972	CCDS6578.1	9p13.2	2011-12-01	2011-12-01	2011-12-01	ENSG00000005238	ENSG00000005238			25666	protein-coding gene	gene with protein product			"""KIAA1539"""	KIAA1539		10819331	Standard	NM_025182		Approved	FLJ11560, bA182N22.6	uc003zwo.3	Q7L5A3	OTTHUMG00000019847	ENST00000378561.1:c.1278C>A	9.37:g.35105947G>T						STOML2_uc003zwh.2_5'Flank|STOML2_uc003zwi.2_5'Flank|STOML2_uc003zwj.2_5'Flank|STOML2_uc011lou.1_5'Flank|STOML2_uc003zwk.2_5'Flank|KIAA1539_uc003zwm.2_Silent_p.T426T|KIAA1539_uc003zwn.2_Silent_p.T121T|KIAA1539_uc003zwo.2_Silent_p.T426T|KIAA1539_uc003zwp.1_Silent_p.T426T|KIAA1539_uc010mkk.1_RNA	p.T426T	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)		7	1603	-	all_epithelial(49;0.217)		426					B1AML4|B1AML5|D3DRN5|O60377|Q9BQ60|Q9HAI9|Q9P1Y9	Silent	SNP	ENST00000378561.1	37	c.1278C>A	CCDS6578.1																																																																																				PASS	0.597	FAM214B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052261.1	NM_025182		25	68	25	68	---	---	---	---
PAX5	5079	broad.mit.edu	37	9	36846876	36846876	+	Missense_Mutation	SNP	T	T	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr9:36846876T>A	ENST00000358127.4	-	9	1137	c.1063A>T	c.(1063-1065)Aac>Tac	p.N355Y	PAX5_ENST00000520281.1_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.N247Y|PAX5_ENST00000377853.2_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.N312Y|PAX5_ENST00000446742.1_Missense_Mutation_p.N255Y|PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000523241.1_Silent_p.T277T|PAX5_ENST00000377852.2_Missense_Mutation_p.N321Y	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	355					humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|skeletal muscle cell differentiation (GO:0035914)|spermatogenesis (GO:0007283)|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)	p.?(11)|p.N355H(1)|p.N355Y(1)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		CAGGAGTCGTTGTACGAGGAA	0.597			"""T, Mis, D, F, S"""	"""IGH@, ETV6, PML, FOXP1, ZNF521, ELN"""	"""NHL, ALL, B-ALL"""																																	uc003zzo.1				Dom	yes		9	9p13	5079	T|Mis|D|F|S	paired box gene 5 (B-cell lineage specific activator protein)			L	IGH@|ETV6|PML|FOXP1|ZNF521|ELN		NHL|ALL|B-ALL	PAX5/JAK2(18)	13	Unknown(11)|Substitution - Missense(2)	p.?(11)|p.N355H(1)	haematopoietic_and_lymphoid_tissue(11)|lung(2)	haematopoietic_and_lymphoid_tissue(142)|lung(3)|central_nervous_system(2)	147						c.(1063-1065)AAC>TAC		paired box 5							67.0	66.0	66.0					9																	36846876		2203	4300	6503	SO:0001583	missense	5079				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	g.chr9:36846876T>A		CCDS6607.1, CCDS65039.1, CCDS65040.1, CCDS65041.1, CCDS65042.1, CCDS65043.1, CCDS65044.1, CCDS65045.1, CCDS65046.1, CCDS65047.1, CCDS65048.1	9p13.2	2011-06-20	2007-07-12		ENSG00000196092	ENSG00000196092		"""Paired boxes"", ""Homeoboxes / PRD class"""	8619	protein-coding gene	gene with protein product	"""B-cell lineage specific activator"""	167414	"""paired box gene 5 (B-cell lineage specific activator protein)"", ""paired box gene 5 (B-cell lineage specific activator)"""			1516825, 8431641	Standard	NM_016734		Approved	BSAP	uc003zzo.1	Q02548	OTTHUMG00000019907	ENST00000358127.4:c.1063A>T	9.37:g.36846876T>A	ENSP00000350844:p.Asn355Tyr					PAX5_uc011lpt.1_Missense_Mutation_p.N151Y|PAX5_uc011lpu.1_RNA|PAX5_uc011lpv.1_Intron|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.N255Y|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.N312Y|PAX5_uc011lqa.1_Missense_Mutation_p.N247Y|PAX5_uc010mlq.1_RNA|PAX5_uc011lqb.1_RNA|PAX5_uc010mlo.1_Missense_Mutation_p.N321Y|PAX5_uc010mlp.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Silent_p.T277T	p.N355Y	NM_016734	NP_057953	Q02548	PAX5_HUMAN		GBM - Glioblastoma multiforme(29;0.0108)	9	1511	-		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)	355					A3QVP6|A3QVP7|A3QVP8|C0KTF6|C0KTF7|C0KTF8|C0KTF9|C0KTG0|O75933|Q5SFM2|Q6S728|Q6S729|Q6S730|Q6S731|Q6S732	Missense_Mutation	SNP	ENST00000358127.4	37	c.1063A>T	CCDS6607.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.486845	0.84854	.	.	ENSG00000196092	ENST00000358127;ENST00000377849;ENST00000377852;ENST00000446742;ENST00000522003;ENST00000414447;ENST00000524340	T;T;T;T;T;T	0.35789	1.29;1.29;1.29;1.29;1.29;1.29	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;0.997;0.997	D;D;D;D;D	0.91635	0.999;0.998;0.998;0.995;0.995	T	0.57997	-0.7714	10	0.44086	T	0.13	.	14.6275	0.68632	0.0:0.0:0.0:1.0	.	312;255;182;321;355	C0KTF7;C0KTF9;C0KTE2;Q6S731;Q02548	.;.;.;.;PAX5_HUMAN	Y	355;266;321;255;247;312;182	ENSP00000350844:N355Y;ENSP00000367083:N321Y;ENSP00000404687:N255Y;ENSP00000429359:N247Y;ENSP00000412188:N312Y;ENSP00000429404:N182Y	ENSP00000350844:N355Y	N	-	1	0	PAX5	36836876	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.680000	0.74518	2.091000	0.63221	0.459000	0.35465	AAC		PASS	0.597	PAX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052433.1			81	50	81	50	---	---	---	---
SVEP1	79987	broad.mit.edu	37	9	113191430	113191430	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr9:113191430C>A	ENST00000401783.2	-	35	6136	c.5800G>T	c.(5800-5802)Gga>Tga	p.G1934*	SVEP1_ENST00000297826.5_5'Flank|SVEP1_ENST00000374469.1_Nonsense_Mutation_p.G1911*	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1934	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.G1937*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TACCTGTATCCTGTATCGCAT	0.358																																						uc010mtz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(7)	7						c.(5800-5802)GGA>TGA		polydom							19.0	19.0	19.0					9																	113191430		1858	4096	5954	SO:0001587	stop_gained	79987				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	g.chr9:113191430C>A	AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.5800G>T	9.37:g.113191430C>A	ENSP00000384917:p.Gly1934*					SVEP1_uc010mty.2_Translation_Start_Site	p.G1934*	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN			35	6137	-			1934			Sushi 9.		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Nonsense_Mutation	SNP	ENST00000401783.2	37	c.5800G>T	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	C	48	14.601038	0.99802	.	.	ENSG00000165124	ENST00000401783;ENST00000374469	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.3287	0.94275	0.0:1.0:0.0:0.0	.	.	.	.	X	1934;1911	.	ENSP00000363593:G1911X	G	-	1	0	SVEP1	112231251	1.000000	0.71417	0.954000	0.39281	0.608000	0.37181	6.636000	0.74299	2.567000	0.86603	0.650000	0.86243	GGA		PASS	0.358	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				11	12	11	12	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	120053768	120053768	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr9:120053768A>G	ENST00000313400.4	-	2	567	c.467T>C	c.(466-468)aTc>aCc	p.I156T	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.I156T|ASTN2_ENST00000373996.3_Missense_Mutation_p.I156T			O75129	ASTN2_HUMAN	astrotactin 2	156					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)		p.I156T(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACCAGCGAGATGTCCGCTGC	0.627																																						uc004bjs.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|breast(1)|kidney(1)	9						c.(466-468)ATC>ACC		astrotactin 2 isoform c							49.0	45.0	46.0					9																	120053768		2203	4300	6503	SO:0001583	missense	23245					integral to membrane		g.chr9:120053768A>G	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.467T>C	9.37:g.120053768A>G	ENSP00000314038:p.Ile156Thr					ASTN2_uc004bjr.1_Missense_Mutation_p.I156T|ASTN2_uc004bjt.1_Missense_Mutation_p.I156T	p.I156T	NM_198187	NP_937830	O75129	ASTN2_HUMAN			2	568	-			156			Extracellular (Potential).		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37	c.467T>C		.	.	.	.	.	.	.	.	.	.	A	23.7	4.452103	0.84209	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000361209	T;T;T	0.14391	2.58;2.58;2.51	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.31482	0.0798	L	0.47190	1.495	0.53688	D	0.999972	P;P;D	0.89917	0.933;0.89;1.0	P;B;D	0.85130	0.544;0.419;0.997	T	0.00728	-1.1591	9	.	.	.	-31.0606	16.383	0.83481	1.0:0.0:0.0:0.0	.	156;156;156	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	T	156	ENSP00000314038:I156T;ENSP00000363108:I156T;ENSP00000354504:I156T	.	I	-	2	0	ASTN2	119093589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.258000	0.95555	2.326000	0.78906	0.533000	0.62120	ATC		PASS	0.627	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		22	11	22	11	---	---	---	---
SFMBT2	57713	broad.mit.edu	37	10	7409783	7409783	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr10:7409783C>T	ENST00000361972.4	-	4	354	c.264G>A	c.(262-264)ccG>ccA	p.P88P	SFMBT2_ENST00000379711.2_Silent_p.P88P|SFMBT2_ENST00000397160.3_Silent_p.P88P|SFMBT2_ENST00000379713.3_Silent_p.P88P|SFMBT2_ENST00000397167.1_Silent_p.P88P	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	88					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)	p.P88P(3)		NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGTACGTGTCCGGGTTGTTCT	0.517																																						uc009xio.1																			3	Substitution - coding silent(3)		large_intestine(2)|lung(1)	ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1)	8						c.(262-264)CCG>CCA		Scm-like with four mbt domains 2							82.0	80.0	80.0					10																	7409783		2203	4300	6503	SO:0001819	synonymous_variant	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7409783C>T	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.264G>A	10.37:g.7409783C>T						SFMBT2_uc001ijn.1_Silent_p.P88P|SFMBT2_uc010qay.1_Silent_p.P88P|SFMBT2_uc001ijo.1_Silent_p.P88P	p.P88P	NM_001029880	NP_001025051	Q5VUG0	SMBT2_HUMAN			4	355	-			88			MBT 1.		A7MD09|Q9HCF5	Silent	SNP	ENST00000361972.4	37	c.264G>A	CCDS31138.1																																																																																				PASS	0.517	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		31	14	31	14	---	---	---	---
COL17A1	1308	broad.mit.edu	37	10	105830203	105830203	+	Silent	SNP	C	C	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr10:105830203C>G	ENST00000353479.5	-	9	878	c.588G>C	c.(586-588)gtG>gtC	p.V196V	COL17A1_ENST00000393211.3_Silent_p.V196V|COL17A1_ENST00000369733.3_Silent_p.V196V	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	196	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.V196V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGCTCGCTGTCACAATTTTGG	0.557																																						uc001kxr.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(586-588)GTG>GTC		alpha 1 type XVII collagen							111.0	98.0	102.0					10																	105830203		2203	4300	6503	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105830203C>G	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.588G>C	10.37:g.105830203C>G						COL17A1_uc010qqv.1_Silent_p.V180V|COL17A1_uc009xxp.1_Silent_p.V196V	p.V196V	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	9	757	-		Colorectal(252;0.103)|Breast(234;0.122)	196			Cytoplasmic (Potential).|Nonhelical region (NC16).|Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.588G>C	CCDS7554.1																																																																																				PASS	0.557	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494		42	21	42	21	---	---	---	---
SEC23IP	11196	broad.mit.edu	37	10	121671669	121671669	+	Silent	SNP	T	T	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr10:121671669T>C	ENST00000369075.3	+	6	1377	c.1305T>C	c.(1303-1305)atT>atC	p.I435I	SEC23IP_ENST00000543134.1_Silent_p.I224I	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	435					acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.I435I(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTGATGAAATTCCCGACGGTG	0.428																																						uc001leu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1303-1305)ATT>ATC		Sec23-interacting protein p125							209.0	189.0	196.0					10																	121671669		2203	4300	6503	SO:0001819	synonymous_variant	11196				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding	g.chr10:121671669T>C	AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.1305T>C	10.37:g.121671669T>C						SEC23IP_uc010qtc.1_Silent_p.I224I	p.I435I	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN		all cancers(201;0.00515)	6	1377	+		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)	435					D3DRD2|Q8IXH5|Q9BUK5	Silent	SNP	ENST00000369075.3	37	c.1305T>C	CCDS7618.1																																																																																				PASS	0.428	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050688.1			3	153	3	153	---	---	---	---
PSTK	118672	broad.mit.edu	37	10	124746901	124746901	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr10:124746901C>A	ENST00000368887.3	+	6	1369	c.929C>A	c.(928-930)gCg>gAg	p.A310E	PSTK_ENST00000405485.1_3'UTR|PSTK_ENST00000497219.1_3'UTR	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	310					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)	p.A310E(1)		endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		tgggtaagagcgaaccatgca	0.433																																						uc001lgy.1																			1	Substitution - Missense(1)		lung(1)	liver(1)	1						c.(928-930)GCG>GAG		phosphoseryl-tRNA kinase							120.0	109.0	113.0					10																	124746901		2203	4300	6503	SO:0001583	missense	118672						ATP binding|kinase activity	g.chr10:124746901C>A	AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.929C>A	10.37:g.124746901C>A	ENSP00000357882:p.Ala310Glu						p.A310E	NM_153336	NP_699167	Q8IV42	PSTK_HUMAN		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)	6	1369	+		all_neural(114;0.169)|Glioma(114;0.222)	310					Q6ZSS9	Missense_Mutation	SNP	ENST00000368887.3	37	c.929C>A	CCDS7633.1	.	.	.	.	.	.	.	.	.	.	C	8.741	0.919017	0.17982	.	.	ENSG00000179988	ENST00000368887	T	0.53423	0.62	2.48	-0.47	0.12131	.	0.376803	0.22261	U	0.062404	T	0.28962	0.0719	L	0.27053	0.805	0.09310	N	1	B	0.33694	0.421	B	0.42282	0.382	T	0.34153	-0.9840	10	0.02654	T	1	.	4.9229	0.13878	0.0:0.5129:0.0:0.4871	.	310	Q8IV42	PSTK_HUMAN	E	310	ENSP00000357882:A310E	ENSP00000357882:A310E	A	+	2	0	PSTK	124736891	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.373000	0.02568	-0.111000	0.12001	-0.136000	0.14681	GCG		PASS	0.433	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050811.1	NM_153336		43	17	43	17	---	---	---	---
HRAS	3265	broad.mit.edu	37	11	534286	534286	+	Missense_Mutation	SNP	C	C	G	rs104894228		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr11:534286C>G	ENST00000451590.1	-	2	224	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R	HRAS_ENST00000417302.1_Missense_Mutation_p.G13R|HRAS_ENST00000397594.1_Missense_Mutation_p.G13R|HRAS_ENST00000397596.2_Missense_Mutation_p.G13R|HRAS_ENST00000311189.7_Missense_Mutation_p.G13R|HRAS_ENST00000468682.2_5'UTR	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	13			G -> C (in CSTLO). {ECO:0000269|PubMed:16329078}.|G -> D (in CSTLO). {ECO:0000269|PubMed:16170316}.|G -> R (in SFM; somatic mutation; shows constitutive activation of the MAPK and PI3K-AKT signaling pathways). {ECO:0000269|PubMed:22683711}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTGCCCACACCGCCGGCGCCC	0.642		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2		6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		88	Substitution - Missense(87)|Insertion - In frame(1)	p.G13R(34)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1)	skin(26)|thyroid(17)|urinary_tract(13)|upper_aerodigestive_tract(11)|soft_tissue(8)|lung(5)|salivary_gland(3)|prostate(3)|adrenal_gland(1)|bone(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM060018	HRAS	M	rs104894228	c.(37-39)GGT>CGT		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						85.0	80.0	82.0					11																	534286		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534286C>G	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.37G>C	11.37:g.534286C>G	ENSP00000407586:p.Gly13Arg	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G13R|HRAS_uc010qvx.1_Missense_Mutation_p.G13R|HRAS_uc010qvy.1_RNA	p.G13R	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	225	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	13		G -> D (in FCSS).|G -> C (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.37G>C	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589995	0.66105	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84257	0.5432	M	0.74647	2.275	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.967;0.981	D	0.86952	0.2086	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	13;13	P01112-2;P01112	.;RASH_HUMAN	R	13	ENSP00000380722:G13R;ENSP00000380723:G13R;ENSP00000407586:G13R;ENSP00000388246:G13R;ENSP00000309845:G13R	ENSP00000309845:G13R	G	-	1	0	HRAS	524286	1.000000	0.71417	0.446000	0.26920	0.236000	0.25371	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGT		PASS	0.642	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		16	23	16	23	---	---	---	---
CARS	833	broad.mit.edu	37	11	3039644	3039644	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr11:3039644G>T	ENST00000397111.5	-	13	1619	c.1374C>A	c.(1372-1374)ttC>ttA	p.F458L	CARS_ENST00000278224.9_Missense_Mutation_p.F458L|CARS_ENST00000397114.3_Missense_Mutation_p.F448L|CARS_ENST00000380525.4_Missense_Mutation_p.F541L|CARS_ENST00000401769.3_Missense_Mutation_p.F471L			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	458					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.F458L(1)|p.F541L(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)	TCACATTCAAGAACTTCTCAT	0.592			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.(1372-1374)TTC>TTA		cysteinyl-tRNA synthetase isoform b	L-Cysteine(DB00151)						56.0	47.0	50.0					11																	3039644		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.chr11:3039644G>T	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.1374C>A	11.37:g.3039644G>T	ENSP00000380300:p.Phe458Leu					CARS_uc001lxe.2_Missense_Mutation_p.F448L|CARS_uc001lxf.2_Missense_Mutation_p.F541L|CARS_uc001lxg.2_Missense_Mutation_p.F458L|CARS_uc010qxo.1_Missense_Mutation_p.F541L|CARS_uc010qxp.1_Missense_Mutation_p.F471L	p.F458L	NM_001751	NP_001742	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	13	1448	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	458					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	c.1374C>A	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	G	11.41	1.631660	0.29068	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.39997	1.05;1.06;1.05;1.06;1.05	4.38	3.43	0.39272	.	0.053263	0.85682	N	0.000000	T	0.23611	0.0571	L	0.28649	0.875	0.58432	D	0.999999	B;B;B;B;B;B	0.09022	0.001;0.0;0.001;0.002;0.0;0.001	B;B;B;B;B;B	0.08055	0.001;0.001;0.002;0.003;0.001;0.002	T	0.07888	-1.0749	10	0.10902	T	0.67	-25.4976	5.5069	0.16858	0.324:0.0:0.676:0.0	.	471;541;458;458;541;448	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	L	541;458;458;448;471	ENSP00000369897:F541L;ENSP00000380300:F458L;ENSP00000278224:F458L;ENSP00000380303:F448L;ENSP00000384069:F471L	ENSP00000278224:F458L	F	-	3	2	CARS	2996220	1.000000	0.71417	0.986000	0.45419	0.782000	0.44232	2.452000	0.44961	2.282000	0.76494	0.655000	0.94253	TTC		PASS	0.592	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4	NM_001751		3	19	3	19	---	---	---	---
OR51S1	119692	broad.mit.edu	37	11	4869883	4869883	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr11:4869883A>T	ENST00000322101.2	-	1	631	c.556T>A	c.(556-558)Tat>Aat	p.Y186N	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y186N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCAAGCAATAAGAATGGGTT	0.562																																						uc010qyo.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(556-558)TAT>AAT		olfactory receptor, family 51, subfamily S,							98.0	103.0	102.0					11																	4869883		2201	4298	6499	SO:0001583	missense	119692				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4869883A>T	AB065796	CCDS31362.1	11p15.4	2012-08-09			ENSG00000176922	ENSG00000176922		"""GPCR / Class A : Olfactory receptors"""	15204	protein-coding gene	gene with protein product							Standard	NM_001004758		Approved		uc010qyo.2	Q8NGJ8	OTTHUMG00000066506	ENST00000322101.2:c.556T>A	11.37:g.4869883A>T	ENSP00000322754:p.Tyr186Asn						p.Y186N	NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	556	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	186			Extracellular (Potential).		B9EGZ1|Q6IFI2	Missense_Mutation	SNP	ENST00000322101.2	37	c.556T>A	CCDS31362.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.551690	0.65311	.	.	ENSG00000176922	ENST00000322101	T	0.38401	1.14	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41712	D	0.000824	T	0.69351	0.3101	H	0.94462	3.54	0.38573	D	0.949995	D	0.76494	0.999	D	0.72338	0.977	T	0.80721	-0.1256	10	0.87932	D	0	-12.3808	14.1171	0.65161	1.0:0.0:0.0:0.0	.	186	Q8NGJ8	O51S1_HUMAN	N	186	ENSP00000322754:Y186N	ENSP00000322754:Y186N	Y	-	1	0	OR51S1	4826459	0.998000	0.40836	0.931000	0.37212	0.776000	0.43924	8.491000	0.90468	2.203000	0.70933	0.533000	0.62120	TAT		PASS	0.562	OR51S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142179.1	NM_001004758		71	36	71	36	---	---	---	---
PPFIBP2	8495	broad.mit.edu	37	11	7673013	7673013	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr11:7673013G>C	ENST00000299492.4	+	23	2762	c.2374G>C	c.(2374-2376)Gag>Cag	p.E792Q	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.E649Q|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.E634Q|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.E680Q	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	792					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)	p.E792Q(1)		breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGCTGAACAGGAGAAGCGAGA	0.582																																						uc001mfj.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(2374-2376)GAG>CAG		PTPRF interacting protein, binding protein 2							134.0	127.0	130.0					11																	7673013		2201	4296	6497	SO:0001583	missense	8495				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding	g.chr11:7673013G>C	AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2374G>C	11.37:g.7673013G>C	ENSP00000299492:p.Glu792Gln					PPFIBP2_uc010rbb.1_Missense_Mutation_p.E715Q|PPFIBP2_uc001mfk.1_Intron|PPFIBP2_uc010rbc.1_Missense_Mutation_p.E726Q|PPFIBP2_uc010rbe.1_Missense_Mutation_p.E680Q|PPFIBP2_uc001mfl.3_Missense_Mutation_p.E649Q|PPFIBP2_uc009yfj.1_Missense_Mutation_p.E436Q	p.E792Q	NM_003621	NP_003612	Q8ND30	LIPB2_HUMAN		Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)	23	2762	+			792					B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	ENST00000299492.4	37	c.2374G>C	CCDS31419.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.87|12.87	2.066060|2.066060	0.36470|0.36470	.|.	.|.	ENSG00000166387|ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181|ENST00000534552	T;T;T;T|.	0.31510|.	1.91;1.49;1.91;1.49|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Sterile alpha motif/pointed domain (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.61022|0.61022	0.2314|0.2314	L|L	0.37850|0.37850	1.14|1.14	0.50171|0.50171	D|D	0.999856|0.999856	D;D;D;D;D;D|.	0.89917|.	1.0;0.99;1.0;0.998;0.999;1.0|.	D;P;D;D;D;D|.	0.91635|.	0.998;0.889;0.999;0.937;0.995;0.997|.	T|T	0.53563|0.53563	-0.8421|-0.8421	10|5	0.11485|.	T|.	0.65|.	-23.889|-23.889	17.8364|17.8364	0.88699|0.88699	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	680;680;715;634;649;792|.	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30|.	.;.;.;.;.;LIPB2_HUMAN|.	Q|A	792;133;634;715;680;649|23	ENSP00000299492:E792Q;ENSP00000436498:E634Q;ENSP00000435469:E680Q;ENSP00000437321:E649Q|.	ENSP00000299492:E792Q|.	E|G	+|+	1|2	0|0	PPFIBP2|PPFIBP2	7629589|7629589	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	6.534000|6.534000	0.73833|0.73833	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAG|GGA		PASS	0.582	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385345.2	NM_003621		60	24	60	24	---	---	---	---
USH1C	10083	broad.mit.edu	37	11	17518319	17518319	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr11:17518319C>A	ENST00000318024.4	-	20	1740	c.1632G>T	c.(1630-1632)gaG>gaT	p.E544D	USH1C_ENST00000527020.1_Missense_Mutation_p.E525D|USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.E513D|USH1C_ENST00000005226.7_Missense_Mutation_p.E844D	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	544					auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)	p.E844D(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CATCGTCATACTCCTTTGGGG	0.577																																						uc001mnf.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1630-1632)GAG>GAT		harmonin isoform a							164.0	120.0	135.0					11																	17518319		2200	4293	6493	SO:0001583	missense	10083				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding	g.chr11:17518319C>A	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1632G>T	11.37:g.17518319C>A	ENSP00000317018:p.Glu544Asp					USH1C_uc001mne.2_Missense_Mutation_p.E844D|USH1C_uc009yhb.2_Missense_Mutation_p.E525D|USH1C_uc001mng.2_RNA|USH1C_uc001mnd.2_Missense_Mutation_p.E508D	p.E544D	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN			20	1741	-			544					A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Missense_Mutation	SNP	ENST00000318024.4	37	c.1632G>T	CCDS31438.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.342534	0.41498	.	.	ENSG00000006611	ENST00000318024;ENST00000527720;ENST00000527020;ENST00000005226	T;T;T;T	0.27557	1.66;1.66;1.9;1.72	5.21	2.28	0.28536	PDZ/DHR/GLGF (1);	0.204987	0.40640	N	0.001055	T	0.20981	0.0505	L	0.27053	0.805	0.26452	N	0.975591	B;B;B	0.15473	0.005;0.013;0.002	B;B;B	0.20577	0.03;0.028;0.006	T	0.18808	-1.0325	10	0.62326	D	0.03	.	9.3254	0.37990	0.0:0.7611:0.0:0.2389	.	525;544;844	Q9Y6N9-4;Q9Y6N9;Q7RTU8	.;USH1C_HUMAN;.	D	544;513;525;844	ENSP00000317018:E544D;ENSP00000432944:E513D;ENSP00000436934:E525D;ENSP00000005226:E844D	ENSP00000005226:E844D	E	-	3	2	USH1C	17474895	0.996000	0.38824	0.976000	0.42696	0.855000	0.48748	0.153000	0.16323	0.201000	0.20466	0.555000	0.69702	GAG		PASS	0.577	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709		42	22	42	22	---	---	---	---
OR4A15	81328	broad.mit.edu	37	11	55136333	55136334	+	Missense_Mutation	DNP	CC	CC	AA	rs149238692	byFrequency	TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr11:55136333_55136334CC>AA	ENST00000314706.3	+	1	974_975	c.974_975CC>AA	c.(973-975)gCC>gAA	p.A325E		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	325						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A325D(1)|p.A325E(1)|p.A325A(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						ATGAAAAGTGCCATGAGGAAAC	0.371																																						uc010rif.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|skin(1)	2						c.(973-975)GCC>GAC|c.(973-975)GCC>GCA		olfactory receptor, family 4, subfamily A,																																				SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55136333C>A|g.chr11:55136334C>A	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	Exception_encountered	11.37:g.55136333_55136334delinsAA	ENSP00000325065:p.Ala325Glu						p.A325D|p.A325A	NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN			1	974|975	+			325			Cytoplasmic (Potential).		Q6IFL4|Q96R65	Missense_Mutation|Silent	SNP	ENST00000314706.3	37	c.974C>A|c.975C>A	CCDS31500.1																																																																																				PASS	0.371	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		82|81	68	81	68	---	---	---	---
PGR	5241	broad.mit.edu	37	11	100933389	100933389	+	Silent	SNP	T	T	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr11:100933389T>C	ENST00000325455.5	-	4	3454	c.2001A>G	c.(1999-2001)caA>caG	p.Q667Q	PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Silent_p.Q73Q	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	667					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|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)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.Q667Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	GGCTTAGGGCTTGGCTTTCAT	0.438																																					Pancreas(124;2271 2354 21954 22882)	uc001pgh.2																			1	Substitution - coding silent(1)		lung(1)	lung(1)|liver(1)|central_nervous_system(1)|pancreas(1)	4						c.(1999-2001)CAA>CAG		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)						165.0	144.0	151.0					11																	100933389		2203	4300	6503	SO:0001819	synonymous_variant	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100933389T>C	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2001A>G	11.37:g.100933389T>C						PGR_uc001pgg.2_Silent_p.Q48Q|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA	p.Q667Q	NM_000926	NP_000917	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	4	2744	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	667					A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Silent	SNP	ENST00000325455.5	37	c.2001A>G	CCDS8310.1																																																																																				PASS	0.438	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			6	156	6	156	---	---	---	---
OR8B3	390271	broad.mit.edu	37	11	124266547	124266547	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr11:124266547C>A	ENST00000354597.3	-	1	717	c.701G>T	c.(700-702)aGa>aTa	p.R234I		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R234I(1)		kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGCTTTTGATCTTCCTTGAGT	0.368																																						uc010saj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(700-702)AGA>ATA		olfactory receptor, family 8, subfamily B,							63.0	70.0	68.0					11																	124266547		2195	4279	6474	SO:0001583	missense	390271				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124266547C>A	AB065827	CCDS31709.1	11q24.1	2012-08-09			ENSG00000196661	ENSG00000196661		"""GPCR / Class A : Olfactory receptors"""	8472	protein-coding gene	gene with protein product							Standard	NM_001005467		Approved		uc010saj.2	Q8NGG8	OTTHUMG00000165983	ENST00000354597.3:c.701G>T	11.37:g.124266547C>A	ENSP00000346611:p.Arg234Ile					OR8B2_uc001qab.3_Intron	p.R234I	NM_001005467	NP_001005467	Q8NGG8	OR8B3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)	1	701	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	234			Cytoplasmic (Potential).		Q6IFQ8|Q8NGH1	Missense_Mutation	SNP	ENST00000354597.3	37	c.701G>T	CCDS31709.1	.	.	.	.	.	.	.	.	.	.	N	10.04	1.242472	0.22796	.	.	ENSG00000196661	ENST00000354597	T	0.00330	8.08	3.78	3.78	0.43462	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000005	T	0.00936	0.0031	M	0.90922	3.16	0.23314	N	0.99792	D	0.63046	0.992	D	0.72338	0.977	T	0.17319	-1.0373	10	0.87932	D	0	.	11.203	0.48751	0.0:0.9065:0.0:0.0935	.	234	Q8NGG8	OR8B3_HUMAN	I	234	ENSP00000346611:R234I	ENSP00000346611:R234I	R	-	2	0	OR8B3	123771757	0.000000	0.05858	0.081000	0.20488	0.077000	0.17291	1.089000	0.30890	2.394000	0.81467	0.555000	0.69702	AGA		PASS	0.368	OR8B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387291.1	NM_001005467		67	39	67	39	---	---	---	---
NTM	50863	broad.mit.edu	37	11	132180043	132180043	+	Silent	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr11:132180043C>A	ENST00000374786.1	+	5	1178	c.699C>A	c.(697-699)gtC>gtA	p.V233V	NTM_ENST00000374784.1_Silent_p.V233V|NTM_ENST00000427481.2_Silent_p.V224V|NTM_ENST00000539799.1_Silent_p.V233V|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000425719.2_Silent_p.V233V|NTM_ENST00000374791.3_Silent_p.V233V	NM_001144058.1|NM_016522.2	NP_001137530.1|NP_057606.1	Q9P121	NTRI_HUMAN	neurotrimin	233	Ig-like C2-type 3.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V233V(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						GTACAGGTGTCCCCGTGGGAC	0.468																																						uc001qgp.2																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(697-699)GTC>GTA		neurotrimin isoform 1							137.0	139.0	139.0					11																	132180043		2201	4297	6498	SO:0001819	synonymous_variant	50863				cell adhesion|neuron recognition	anchored to membrane|plasma membrane		g.chr11:132180043C>A	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.699C>A	11.37:g.132180043C>A						NTM_uc001qgm.2_Silent_p.V233V|NTM_uc010sch.1_Silent_p.V224V|NTM_uc010sci.1_Silent_p.V233V|NTM_uc010scj.1_Silent_p.V192V|NTM_uc001qgo.2_Silent_p.V233V|NTM_uc001qgq.2_Silent_p.V233V|NTM_uc001qgr.2_5'UTR	p.V233V	NM_016522	NP_057606	Q9P121	NTRI_HUMAN			5	1363	+			233			Ig-like C2-type 3.		A0MTT2|Q6UXJ3|Q86VJ9	Silent	SNP	ENST00000374786.1	37	c.699C>A	CCDS8491.1																																																																																				PASS	0.468	NTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141937.1	NM_016522		94	53	94	53	---	---	---	---
CLEC4D	338339	broad.mit.edu	37	12	8673755	8673755	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr12:8673755G>A	ENST00000299665.2	+	6	729	c.536G>A	c.(535-537)gGa>gAa	p.G179E		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	179	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				innate immune response (GO:0045087)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.G179E(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					AACTCTCAGGGAGAAAACTGT	0.348																																						uc001qun.2																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)GGA>GAA		C-type lectin domain family 4, member D							126.0	122.0	123.0					12																	8673755		2203	4300	6503	SO:0001583	missense	338339				innate immune response	integral to membrane	sugar binding	g.chr12:8673755G>A	AF411850	CCDS8593.1	12p13.31	2005-09-21	2005-02-09	2005-02-11		ENSG00000166527		"""C-type lectin domain containing"""	14554	protein-coding gene	gene with protein product		609964	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 8"""	CLECSF8			Standard	NM_080387		Approved	Mpcl	uc001qun.3	Q8WXI8		ENST00000299665.2:c.536G>A	12.37:g.8673755G>A	ENSP00000299665:p.Gly179Glu						p.G179E	NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN			6	729	+	Lung SC(5;0.184)		179			C-type lectin.|Extracellular (Potential).		Q8N5J5	Missense_Mutation	SNP	ENST00000299665.2	37	c.536G>A	CCDS8593.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.503792	0.00155	.	.	ENSG00000166527	ENST00000299665	T	0.19105	2.17	4.22	1.9	0.25705	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.07052	0.0179	N	0.04148	-0.265	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40194	-0.9576	9	0.02654	T	1	.	5.529	0.16974	0.7698:0.0:0.2302:0.0	.	179	Q8WXI8	CLC4D_HUMAN	E	179	ENSP00000299665:G179E	ENSP00000299665:G179E	G	+	2	0	CLEC4D	8565022	0.043000	0.20138	0.031000	0.17742	0.228000	0.25075	0.532000	0.23067	0.418000	0.25898	-0.323000	0.08544	GGA		PASS	0.348	CLEC4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400565.1	NM_080387		30	91	30	91	---	---	---	---
PZP	5858	broad.mit.edu	37	12	9307276	9307276	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr12:9307276G>T	ENST00000261336.2	-	29	3738	c.3710C>A	c.(3709-3711)gCa>gAa	p.A1237E	PZP_ENST00000381997.2_Missense_Mutation_p.A1023E	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1237					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A1023E(1)|p.A1237E(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AATGTTAGTTGCAGAGGTCAG	0.567																																					Melanoma(125;1402 1695 4685 34487 38571)	uc001qvl.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)	5						c.(3709-3711)GCA>GAA		pregnancy-zone protein precursor							93.0	79.0	84.0					12																	9307276		2203	4300	6503	SO:0001583	missense	5858							g.chr12:9307276G>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3710C>A	12.37:g.9307276G>T	ENSP00000261336:p.Ala1237Glu					PZP_uc009zgl.2_Missense_Mutation_p.A1023E	p.A1237E	NM_002864	NP_002855					29	3739	-								A6ND27|Q15273|Q2NKL2|Q7M4N7	Missense_Mutation	SNP	ENST00000261336.2	37	c.3710C>A	CCDS8600.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984326	0.35036	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	T;T	0.45276	0.9;0.9	3.97	3.97	0.46021	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);A-macroglobulin complement component (1);	0.000000	0.64402	U	0.000017	T	0.75679	0.3882	H	0.98466	4.24	0.09310	N	0.999991	D;D	0.89917	0.992;1.0	P;D	0.80764	0.787;0.994	T	0.72364	-0.4316	10	0.87932	D	0	.	11.6533	0.51301	0.0938:0.0:0.9062:0.0	.	1023;1237	P20742-2;P20742	.;PZP_HUMAN	E	1237;1023	ENSP00000261336:A1237E;ENSP00000371427:A1023E	ENSP00000261336:A1237E	A	-	2	0	PZP	9198543	0.998000	0.40836	0.012000	0.15200	0.004000	0.04260	6.184000	0.72008	2.142000	0.66516	0.563000	0.77884	GCA		PASS	0.567	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	NM_002864		46	59	46	59	---	---	---	---
PDE3A	5139	broad.mit.edu	37	12	20806880	20806880	+	Splice_Site	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr12:20806880G>T	ENST00000359062.3	+	15	2965		c.e15-1		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)	TTTATTTCTAGGGTGATGAAG	0.428																																						uc001reh.1																			1	Unknown(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)	4						c.e15-1		phosphodiesterase 3A	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						57.0	58.0	58.0					12																	20806880		2203	4299	6502	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.chr12:20806880G>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.2926-1G>T	12.37:g.20806880G>T							p.G976_splice	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			15	2948	+	Esophageal squamous(101;0.125)	Breast(259;0.134)						O60865|Q13348|Q17RD1	Splice_Site	SNP	ENST00000359062.3	37	c.2926_splice	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.032383	0.54790	.	.	ENSG00000172572	ENST00000359062	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3412	0.94342	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDE3A	20698147	1.000000	0.71417	0.997000	0.53966	0.433000	0.31745	9.358000	0.97109	2.657000	0.90304	0.655000	0.94253	.		PASS	0.428	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		Intron	43	68	43	68	---	---	---	---
PPFIBP1	8496	broad.mit.edu	37	12	27820098	27820098	+	Splice_Site	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr12:27820098G>T	ENST00000318304.8	+	13	1325		c.e13-1		PPFIBP1_ENST00000542629.1_Splice_Site|PPFIBP1_ENST00000228425.6_Splice_Site|PPFIBP1_ENST00000537927.1_Splice_Site	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)						cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)		p.?(2)	PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					TCTTTTCCTAGGCAAAGATGG	0.363																																						uc001ric.1																		PPFIBP1/ALK(3)	2	Unknown(2)		lung(2)	soft_tissue(3)|kidney(1)|skin(1)	5						c.e13-1		PTPRF interacting protein binding protein 1							73.0	71.0	72.0					12																	27820098		2203	4300	6503	SO:0001630	splice_region_variant	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27820098G>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1043-1G>T	12.37:g.27820098G>T						PPFIBP1_uc010sjr.1_Splice_Site_p.G179_splice|PPFIBP1_uc001rib.1_Splice_Site_p.G331_splice|PPFIBP1_uc001ria.2_Splice_Site_p.G317_splice|PPFIBP1_uc001rid.1_Splice_Site_p.G195_splice	p.G348_splice	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			13	1420	+	Lung SC(9;0.0873)							O75336|Q86X70|Q9NY03|Q9ULJ0	Splice_Site	SNP	ENST00000318304.8	37	c.1043_splice	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255707	0.39896	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425;ENST00000537261	.	.	.	5.26	5.26	0.73747	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6654	0.88201	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PPFIBP1	27711365	1.000000	0.71417	0.636000	0.29352	0.431000	0.31685	6.164000	0.71885	2.461000	0.83175	0.650000	0.86243	.		PASS	0.363	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622	Intron	39	39	39	39	---	---	---	---
COPZ1	22818	broad.mit.edu	37	12	54741805	54741805	+	Silent	SNP	C	C	A	rs546534354		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr12:54741805C>A	ENST00000262061.2	+	7	454	c.417C>A	c.(415-417)ccC>ccA	p.P139P	COPZ1_ENST00000549116.1_Silent_p.P81P|COPZ1_ENST00000548281.1_3'UTR|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000416254.2_Silent_p.P88P|COPZ1_ENST00000548753.1_Silent_p.P51P|COPZ1_ENST00000552218.1_Silent_p.P160P|COPZ1_ENST00000553231.1_Silent_p.P116P|COPZ1_ENST00000455864.2_Silent_p.P116P|COPZ1_ENST00000552362.1_Silent_p.P139P|COPZ1_ENST00000551779.1_Silent_p.P139P|COPZ1_ENST00000549043.1_Silent_p.P147P	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	139					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)		p.P139P(1)		kidney(1)|lung(4)	5						AGAGTGATCCCCAGCAGGTGG	0.527																																						uc001sfs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(415-417)CCC>CCA		coatomer protein complex, subunit zeta 1							142.0	136.0	138.0					12																	54741805		2203	4300	6503	SO:0001819	synonymous_variant	22818				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol		g.chr12:54741805C>A	AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"""coatomer protein complex, subunit zeta"""	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.417C>A	12.37:g.54741805C>A						COPZ1_uc001sft.2_Silent_p.P88P|COPZ1_uc009znm.1_Silent_p.P147P|COPZ1_uc010sot.1_Silent_p.P116P	p.P139P	NM_016057	NP_057141	P61923	COPZ1_HUMAN			7	454	+			139					B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Silent	SNP	ENST00000262061.2	37	c.417C>A	CCDS8877.1																																																																																				PASS	0.527	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057		61	71	61	71	---	---	---	---
MMP19	4327	broad.mit.edu	37	12	56232466	56232466	+	Silent	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr12:56232466G>T	ENST00000322569.4	-	6	910	c.819C>A	c.(817-819)ccC>ccA	p.P273P	MMP19_ENST00000547487.1_5'Flank|MMP19_ENST00000394182.1_5'Flank|MMP19_ENST00000548629.1_Silent_p.P250P|TMEM198B_ENST00000478241.1_RNA|MMP19_ENST00000409200.3_Silent_p.P191P	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	273					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|luteolysis (GO:0001554)|ovarian follicle development (GO:0001541)|ovulation from ovarian follicle (GO:0001542)|proteolysis (GO:0006508)|response to cAMP (GO:0051591)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.P273P(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26					Marimastat(DB00786)	GGGGCACAGTGGGCAGCTCTG	0.552																																						uc001sib.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(817-819)CCC>CCA		matrix metalloproteinase 19 isoform rasi-1							157.0	126.0	137.0					12																	56232466		2203	4300	6503	SO:0001819	synonymous_variant	4327				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr12:56232466G>T	X92521	CCDS8895.1, CCDS61146.1	12q14	2005-08-08	2005-08-08			ENSG00000123342			7165	protein-coding gene	gene with protein product		601807	"""matrix metalloproteinase 19"""	MMP18		9232430	Standard	NM_002429		Approved	RASI-1	uc001sib.4	Q99542	OTTHUMG00000170216	ENST00000322569.4:c.819C>A	12.37:g.56232466G>T						MMP19_uc001sia.2_5'UTR|MMP19_uc001sid.2_RNA|MMP19_uc010spw.1_Silent_p.P191P	p.P273P	NM_002429	NP_002420	Q99542	MMP19_HUMAN			6	940	-			273					B4E030|O15278|O95606|Q99580	Silent	SNP	ENST00000322569.4	37	c.819C>A	CCDS8895.1																																																																																				PASS	0.552	MMP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408023.1	NM_002429		54	31	54	31	---	---	---	---
KIF5A	3798	broad.mit.edu	37	12	57963425	57963425	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr12:57963425C>T	ENST00000455537.2	+	11	1350	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M	KIF5A_ENST00000286452.5_Missense_Mutation_p.T270M	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	359					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)	p.T359M(2)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						cagaaggagaCGATTGCGAAG	0.522																																						uc001sor.1																			2	Substitution - Missense(2)		lung(1)|endometrium(1)	ovary(2)|skin(1)	3						c.(1075-1077)ACG>ATG		kinesin family member 5A							47.0	51.0	50.0					12																	57963425		2203	4300	6503	SO:0001583	missense	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57963425C>T	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1076C>T	12.37:g.57963425C>T	ENSP00000408979:p.Thr359Met					KIF5A_uc010srr.1_Missense_Mutation_p.T270M	p.T359M	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			11	1284	+			359					A6H8M5|Q4LE26	Missense_Mutation	SNP	ENST00000455537.2	37	c.1076C>T	CCDS8945.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017530	0.35606	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.72725	-0.68;-0.68	4.31	4.31	0.51392	.	0.116572	0.56097	D	0.000032	T	0.66499	0.2795	M	0.66939	2.045	0.51233	D	0.999916	B;B	0.33777	0.425;0.425	B;B	0.26094	0.066;0.066	T	0.68496	-0.5393	10	0.35671	T	0.21	.	16.102	0.81178	0.0:1.0:0.0:0.0	.	270;359	B7Z2M7;Q12840	.;KIF5A_HUMAN	M	359;270	ENSP00000408979:T359M;ENSP00000286452:T270M	ENSP00000286452:T270M	T	+	2	0	KIF5A	56249692	0.425000	0.25498	0.926000	0.36857	0.941000	0.58515	1.844000	0.39269	2.408000	0.81797	0.505000	0.49811	ACG		PASS	0.522	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984		48	22	48	22	---	---	---	---
GRIP1	23426	broad.mit.edu	37	12	66786489	66786489	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr12:66786489G>T	ENST00000398016.3	-	17	2149	c.2081C>A	c.(2080-2082)aCt>aAt	p.T694N	GRIP1_ENST00000286445.7_Missense_Mutation_p.T746N|GRIP1_ENST00000359742.4_Missense_Mutation_p.T746N|GRIP1_ENST00000542021.1_5'Flank	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)	p.T694N(1)		NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CAAGGTGACAGTCTCTCCTGC	0.428																																						uc001stk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2080-2082)ACT>AAT		glutamate receptor interacting protein 1							163.0	152.0	155.0					12																	66786489		1888	4117	6005	SO:0001583	missense	23426				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity	g.chr12:66786489G>T	AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2081C>A	12.37:g.66786489G>T	ENSP00000381098:p.Thr694Asn					GRIP1_uc010sta.1_Missense_Mutation_p.T638N|GRIP1_uc001stj.2_Missense_Mutation_p.T476N|GRIP1_uc001stl.1_Missense_Mutation_p.T586N|GRIP1_uc001stm.2_Missense_Mutation_p.T694N	p.T694N	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)	17	2322	-			746			PDZ 6.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	c.2081C>A	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.827228|4.827228	0.90955|0.90955	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433;ENST00000536215	.|T;T;T;T;T;T	.|0.27402	.|1.67;1.67;1.67;1.67;1.67;1.67	4.9|4.9	4.9|4.9	0.64082|0.64082	.|PDZ/DHR/GLGF (4);	.|0.094278	.|0.64402	.|D	.|0.000001	T|T	0.37972|0.37972	0.1023|0.1023	L|L	0.33339|0.33339	1.005|1.005	0.80722|0.80722	D|D	1|1	.|P;P;P;D	.|0.56287	.|0.896;0.578;0.896;0.975	.|P;B;P;P	.|0.54140	.|0.676;0.405;0.578;0.743	T|T	0.03025|0.03025	-1.1081|-1.1081	5|9	.|.	.|.	.|.	-16.4217|-16.4217	18.6552|18.6552	0.91450|0.91450	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|694;746;694;746	.|F5H4N6;Q9Y3R0;Q9Y3R0-3;Q9Y3R0-2	.|.;GRIP1_HUMAN;.;.	M|N	561|694;746;746;694;638;586	.|ENSP00000381098:T694N;ENSP00000352780:T746N;ENSP00000286445:T746N;ENSP00000446047:T694N;ENSP00000446024:T638N;ENSP00000446011:T586N	.|.	L|T	-|-	1|2	2|0	GRIP1|GRIP1	65072756|65072756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.657000|9.657000	0.98554|0.98554	2.728000|2.728000	0.93425|0.93425	0.462000|0.462000	0.41574|0.41574	CTG|ACT		PASS	0.428	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2			107	57	107	57	---	---	---	---
C12orf50	160419	broad.mit.edu	37	12	88420378	88420378	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr12:88420378C>A	ENST00000298699.2	-	3	200	c.20G>T	c.(19-21)tGc>tTc	p.C7F	C12orf50_ENST00000550553.1_Missense_Mutation_p.C7F|C12orf50_ENST00000546547.1_5'Flank	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	7								p.C7F(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGAAATGCTGCAGTTTTGCTA	0.368																																						uc001tam.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(19-21)TGC>TTC		hypothetical protein LOC160419							83.0	81.0	81.0					12																	88420378		2203	4300	6503	SO:0001583	missense	160419							g.chr12:88420378C>A	AK093140	CCDS9031.1	12q21.32	2006-02-03				ENSG00000165805			26665	protein-coding gene	gene with protein product						12477932	Standard	NM_152589		Approved	FLJ35821	uc001tam.1	Q8NA57	OTTHUMG00000169869	ENST00000298699.2:c.20G>T	12.37:g.88420378C>A	ENSP00000298699:p.Cys7Phe					C12orf50_uc001tan.2_Missense_Mutation_p.C61F	p.C7F	NM_152589	NP_689802	Q8NA57	CL050_HUMAN			3	188	-			7					Q6P674	Missense_Mutation	SNP	ENST00000298699.2	37	c.20G>T	CCDS9031.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.275758	0.59649	.	.	ENSG00000165805	ENST00000298699;ENST00000550553;ENST00000551944;ENST00000551163	T;T	0.31247	1.5;1.51	5.72	5.72	0.89469	.	0.078162	0.56097	D	0.000030	T	0.43411	0.1246	L	0.36672	1.1	0.40273	D	0.9783	D;D	0.89917	0.998;1.0	D;D	0.85130	0.929;0.997	T	0.29088	-1.0023	10	0.49607	T	0.09	.	10.8198	0.46597	0.0:0.9138:0.0:0.0861	.	61;7	G3V208;Q8NA57	.;CL050_HUMAN	F	7;7;61;7	ENSP00000298699:C7F;ENSP00000448344:C7F	ENSP00000298699:C7F	C	-	2	0	C12orf50	86944509	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	2.222000	0.42926	2.686000	0.91538	0.563000	0.77884	TGC		PASS	0.368	C12orf50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406328.1	NM_152589		4	52	4	52	---	---	---	---
GPR133	283383	broad.mit.edu	37	12	131488796	131488796	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr12:131488796G>T	ENST00000261654.5	+	11	1769	c.1210G>T	c.(1210-1212)Ggg>Tgg	p.G404W	GPR133_ENST00000535015.1_Missense_Mutation_p.G436W|GPR133_ENST00000376682.4_Missense_Mutation_p.G90W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	404					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.G404W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCGGCCCACGGGCAGAGCTT	0.622																																						uc001uit.3																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(3)|skin(2)	10						c.(1210-1212)GGG>TGG		G protein-coupled receptor 133 precursor							75.0	65.0	69.0					12																	131488796		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131488796G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1210G>T	12.37:g.131488796G>T	ENSP00000261654:p.Gly404Trp					GPR133_uc010tbm.1_Missense_Mutation_p.G436W	p.G404W	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	11	1769	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		404			Extracellular (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1210G>T	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613865	0.46631	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000544673;ENST00000545900;ENST00000376682	T;T;T	0.70164	-0.41;-0.46;-0.24	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.80464	-0.1371	10	0.87932	D	0	.	13.6739	0.62443	0.0:0.0:1.0:0.0	.	436;404	B7ZLF7;Q6QNK2	.;GP133_HUMAN	W	404;436;95;100;90	ENSP00000261654:G404W;ENSP00000444425:G436W;ENSP00000365872:G90W	ENSP00000261654:G404W	G	+	1	0	GPR133	130054749	1.000000	0.71417	0.680000	0.29994	0.020000	0.10135	4.961000	0.63681	2.282000	0.76494	0.511000	0.50034	GGG		PASS	0.622	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		28	15	28	15	---	---	---	---
RB1	5925	broad.mit.edu	37	13	48916852	48916852	+	Splice_Site	SNP	T	T	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr13:48916852T>G	ENST00000267163.4	+	3	518		c.e3+2			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGAAATCAGGTAAAGTTTCTT	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		23	Whole gene deletion(15)|Unknown(8)	p.?(4)	bone(10)|breast(6)|lung(3)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.e3+2		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						61.0	66.0	64.0					13																	48916852		2203	4299	6502	SO:0001630	splice_region_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48916852T>G	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.380+2T>G	13.37:g.48916852T>G		TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				RB1_uc010acs.1_Intron	p.S127_splice	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	3	546	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)						A8K5E3|P78499|Q5VW46|Q8IZL4	Splice_Site	SNP	ENST00000267163.4	37	c.380_splice	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.760823	0.69763	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0882	0.53710	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RB1	47814853	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	4.749000	0.62155	2.155000	0.67459	0.491000	0.48974	.		PASS	0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		Intron	49	26	49	26	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103514619	103514619	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr13:103514619G>A	ENST00000355739.4	+	8	2543	c.1120G>A	c.(1120-1122)Gca>Aca	p.A374T	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R799H	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	374					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.A374T(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGGGAGGAACGCACCTGCTGC	0.522			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(1120-1122)GCA>ACA	Direct_reversal_of_damage|NER	XPG-complementing protein							69.0	67.0	68.0					13																	103514619		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103514619G>A	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1120G>A	13.37:g.103514619G>A	ENSP00000347978:p.Ala374Thr					ERCC5_uc001vpu.1_Missense_Mutation_p.A828T|ERCC5_uc010tjb.1_Missense_Mutation_p.A374T|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.A206T	p.A374T	NM_000123	NP_000114	P28715	ERCC5_HUMAN			8	1563	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		374					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.1120G>A	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420512	0.25639	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.20200	2.09	5.22	-2.18	0.07037	.	0.889887	0.09633	N	0.775991	T	0.07052	0.0179	L	0.31664	0.95	0.09310	N	1	P;P;P	0.45078	0.669;0.614;0.85	B;B;B	0.24974	0.057;0.057;0.041	T	0.33266	-0.9875	10	0.10111	T	0.7	-1.3757	1.9496	0.03364	0.2285:0.3574:0.2382:0.1758	.	374;374;799	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	T	799;374;206	ENSP00000347978:A374T	ENSP00000347978:A374T	A	+	1	0	ERCC5	102312620	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.483000	0.06536	-0.638000	0.05509	-0.150000	0.13652	GCA		PASS	0.522	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			25	56	25	56	---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49254968	49254968	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr15:49254968G>A	ENST00000332408.4	-	1	673	c.245C>T	c.(244-246)cCa>cTa	p.P82L		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	82	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.P82L(1)|p.P82I(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GGTGCACAGTGGGGTGGGGCT	0.632																																						uc001zxb.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(2)	5						c.(244-246)CCA>CTA		rai-like protein							42.0	46.0	44.0					15																	49254968		2196	4295	6491	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49254968G>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.245C>T	15.37:g.49254968G>A	ENSP00000329668:p.Pro82Leu						p.P82L	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	674	-		all_lung(180;0.00466)	82			CH2.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.245C>T	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161519	0.57368	.	.	ENSG00000185634	ENST00000332408	T	0.40225	1.04	4.91	4.91	0.64330	.	0.199946	0.34484	N	0.003936	T	0.37812	0.1017	L	0.36672	1.1	0.80722	D	1	B	0.23442	0.085	B	0.22386	0.039	T	0.27640	-1.0068	10	0.66056	D	0.02	-6.9349	17.9023	0.88907	0.0:0.0:1.0:0.0	.	82	Q6S5L8	SHC4_HUMAN	L	82	ENSP00000329668:P82L	ENSP00000329668:P82L	P	-	2	0	SHC4	47042260	1.000000	0.71417	0.932000	0.37286	0.987000	0.75469	4.896000	0.63222	2.543000	0.85770	0.655000	0.94253	CCA		PASS	0.632	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		25	112	25	112	---	---	---	---
ETFA	2108	broad.mit.edu	37	15	76588074	76588074	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr15:76588074G>T	ENST00000557943.1	-	2	124	c.44C>A	c.(43-45)tCa>tAa	p.S15*	ETFA_ENST00000559602.1_Intron|ETFA_ENST00000560726.1_Intron|ETFA_ENST00000433983.2_Intron	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	15					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity (GO:0016491)	p.S15*(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						TCGTAGCAATGAGGCCTAAAA	0.358																																						uc002bbt.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(43-45)TCA>TAA		electron transfer flavoprotein, alpha							61.0	57.0	58.0					15																	76588074		2197	4294	6491	SO:0001587	stop_gained	2108				respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr15:76588074G>T	J04058	CCDS32299.1, CCDS45311.1	15q23-q25	2012-04-04	2008-08-01		ENSG00000140374	ENSG00000140374			3481	protein-coding gene	gene with protein product	"""glutaric aciduria II"""	608053					Standard	NM_000126		Approved	GA2, EMA, MADD	uc002bbt.2	P13804	OTTHUMG00000172586	ENST00000557943.1:c.44C>A	15.37:g.76588074G>T	ENSP00000452762:p.Ser15*					ETFA_uc010bkq.1_Intron|ETFA_uc002bbu.1_Nonsense_Mutation_p.S15*	p.S15*	NM_000126	NP_000117	P13804	ETFA_HUMAN			2	125	-			15					B4DT43|Q53XN3	Nonsense_Mutation	SNP	ENST00000557943.1	37	c.44C>A	CCDS32299.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.866808	0.72065	.	.	ENSG00000140374	ENST00000267950	.	.	.	5.26	5.26	0.73747	.	0.376523	0.28538	N	0.014986	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	0.1074	17.8611	0.88781	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	ENSP00000267950:S15X	S	-	2	0	ETFA	74375129	1.000000	0.71417	0.887000	0.34795	0.839000	0.47603	3.530000	0.53539	2.468000	0.83385	0.467000	0.42956	TCA		PASS	0.358	ETFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419302.2	NM_000126		48	46	48	46	---	---	---	---
NTRK3	4916	broad.mit.edu	37	15	88472482	88472482	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr15:88472482C>T	ENST00000360948.2	-	16	2234	c.2073G>A	c.(2071-2073)ctG>ctA	p.L691L	NTRK3_ENST00000357724.2_Silent_p.L683L|NTRK3_ENST00000557856.1_Silent_p.L683L|NTRK3_ENST00000355254.2_Silent_p.L691L|NTRK3_ENST00000558676.1_Silent_p.L683L|NTRK3_ENST00000542733.2_Silent_p.L593L|NTRK3_ENST00000394480.2_Silent_p.L691L	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	691	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L691L(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTTCACTAGCAGATTCGCTC	0.552			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												uc002bme.1				Dom	yes		15	15q25	4916	T	"""neurotrophic tyrosine kinase, receptor, type 3"""			"""E, M"""	ETV6		congenital fibrosarcoma|Secretory breast 	ETV6/NTRK3(234)	2	Substitution - coding silent(2)		lung(2)	soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	281						c.(2071-2073)CTG>CTA		neurotrophic tyrosine kinase, receptor, type 3							107.0	98.0	101.0					15																	88472482		2201	4299	6500	SO:0001819	synonymous_variant	4916				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr15:88472482C>T	U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.2073G>A	15.37:g.88472482C>T		TSP Lung(13;0.10)				NTRK3_uc002bmh.2_Silent_p.L683L|NTRK3_uc002bmf.1_Silent_p.L691L|NTRK3_uc010upl.1_Silent_p.L593L|NTRK3_uc010bnh.1_Silent_p.L683L	p.L691L	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		16	2235	-			691			Cytoplasmic (Potential).|Protein kinase.		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	ENST00000360948.2	37	c.2073G>A	CCDS32322.1																																																																																				PASS	0.552	NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding				102	64	102	64	---	---	---	---
ZNF710	374655	broad.mit.edu	37	15	90623046	90623046	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr15:90623046C>A	ENST00000268154.4	+	5	2231	c.1980C>A	c.(1978-1980)taC>taA	p.Y660*	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	660					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.Y660*(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGATGGCCTACTACAATGTGC	0.632																																						uc002bov.1																			1	Substitution - Nonsense(1)		lung(1)	central_nervous_system(1)	1						c.(1978-1980)TAC>TAA		zinc finger protein 710							60.0	53.0	55.0					15																	90623046		2200	4298	6498	SO:0001587	stop_gained	374655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr15:90623046C>A	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1980C>A	15.37:g.90623046C>A	ENSP00000268154:p.Tyr660*						p.Y660*	NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)		5	2103	+	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		660					A0AVS3|Q6ZMK9|Q8NDU0	Nonsense_Mutation	SNP	ENST00000268154.4	37	c.1980C>A	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	C	40	8.480129	0.98829	.	.	ENSG00000140548	ENST00000268154	.	.	.	5.14	3.23	0.37069	.	0.185433	0.26380	N	0.024706	.	.	.	.	.	.	0.36902	D	0.890441	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.7073	8.1779	0.31294	0.0:0.7458:0.0:0.2542	.	.	.	.	X	660	.	ENSP00000268154:Y660X	Y	+	3	2	ZNF710	88424050	0.986000	0.35501	1.000000	0.80357	0.924000	0.55760	0.602000	0.24134	1.161000	0.42604	0.561000	0.74099	TAC		PASS	0.632	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313423.1	NM_198526		3	99	3	99	---	---	---	---
LRRK1	79705	broad.mit.edu	37	15	101586211	101586211	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr15:101586211T>G	ENST00000388948.3	+	21	3348	c.2989T>G	c.(2989-2991)Tct>Gct	p.S997A	RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000284395.5_Missense_Mutation_p.S994A	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.S997A(1)|p.S1009A(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TCTCCTTCCATCTAAACCTGG	0.587																																						uc002bwr.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1)	12						c.(2989-2991)TCT>GCT		leucine-rich repeat kinase 1							109.0	117.0	114.0					15																	101586211		2031	4164	6195	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101586211T>G	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2989T>G	15.37:g.101586211T>G	ENSP00000373600:p.Ser997Ala					LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA	p.S997A	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		21	3308	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		997						Missense_Mutation	SNP	ENST00000388948.3	37	c.2989T>G	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	8.823	0.937945	0.18206	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.71579	-0.56;-0.58	5.58	3.04	0.35103	.	0.310120	0.35151	N	0.003420	T	0.47764	0.1463	N	0.24115	0.695	0.26481	N	0.975103	B	0.02656	0.0	B	0.01281	0.0	T	0.22452	-1.0216	10	0.08381	T	0.77	.	6.1435	0.20273	0.2332:0.0:0.3958:0.3711	.	997	Q38SD2	LRRK1_HUMAN	A	997;994	ENSP00000373600:S997A;ENSP00000284395:S994A	ENSP00000284395:S994A	S	+	1	0	LRRK1	99403734	0.927000	0.31430	0.833000	0.33012	0.991000	0.79684	1.606000	0.36826	1.004000	0.39156	0.533000	0.62120	TCT		PASS	0.587	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		47	223	47	223	---	---	---	---
WDR90	197335	broad.mit.edu	37	16	712030	712030	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr16:712030T>C	ENST00000293879.4	+	32	4004	c.4004T>C	c.(4003-4005)tTg>tCg	p.L1335S	WDR90_ENST00000549091.1_Missense_Mutation_p.L1335S			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1335								p.L1335S(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGCTGCTTCTTGTCCTGGGAG	0.662																																						uc002cii.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4003-4005)TTG>TCG		WD repeat domain 90							38.0	45.0	43.0					16																	712030		2079	4207	6286	SO:0001583	missense	197335							g.chr16:712030T>C	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4004T>C	16.37:g.712030T>C	ENSP00000293879:p.Leu1335Ser					WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Missense_Mutation_p.L862S|WDR90_uc002cil.1_RNA|WDR90_uc002cim.1_Missense_Mutation_p.L509S|WDR90_uc002cin.1_5'UTR|WDR90_uc010uul.1_5'Flank|WDR90_uc002cio.1_5'Flank|WDR90_uc010bqx.1_5'Flank	p.L1335S	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			32	4058	+		Hepatocellular(780;0.0218)	1335			WD 16.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4004T>C	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.159496	0.78226	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.55234	0.53;1.59	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.193636	0.40554	U	0.001064	T	0.62962	0.2471	L	0.58969	1.84	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.65443	0.935;0.764	T	0.59925	-0.7362	10	0.07990	T	0.79	.	14.2114	0.65767	0.0:0.0:0.0:1.0	.	1335;1335	F8VUX9;Q96KV7	.;WDR90_HUMAN	S	1335	ENSP00000448122:L1335S;ENSP00000293879:L1335S	ENSP00000293879:L1335S	L	+	2	0	WDR90	652031	1.000000	0.71417	1.000000	0.80357	0.289000	0.27227	7.470000	0.80973	1.954000	0.56735	0.459000	0.35465	TTG		PASS	0.662	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		24	43	24	43	---	---	---	---
FAM86A	196483	broad.mit.edu	37	16	5141863	5141863	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr16:5141863G>T	ENST00000427587.4	-	4	342	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	FAM86A_ENST00000458008.4_Intron|FAM86A_ENST00000587133.1_Intron	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	92						cytoplasm (GO:0005737)		p.L92M(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						GCTTCATACAGCTCGTCCAAA	0.557																																						uc002cyo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(274-276)CTG>ATG		hypothetical protein LOC196483 isoform 1							44.0	42.0	42.0					16																	5141863		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5141863G>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.274C>A	16.37:g.5141863G>T	ENSP00000398502:p.Leu92Met					FAM86A_uc002cyp.2_Intron	p.L92M	NM_201400	NP_958802	Q96G04	FA86A_HUMAN			4	323	-			92					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.274C>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	g	14.50	2.554400	0.45487	.	.	ENSG00000118894	ENST00000427587	T	0.28069	1.63	4.24	4.24	0.50183	.	0.000000	0.56097	U	0.000025	T	0.54224	0.1845	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.58165	-0.7684	10	0.52906	T	0.07	.	12.0214	0.53346	0.0:0.0:1.0:0.0	.	92	Q96G04	FA86A_HUMAN	M	92	ENSP00000398502:L92M	ENSP00000398502:L92M	L	-	1	2	FAM86A	5081864	1.000000	0.71417	1.000000	0.80357	0.067000	0.16453	4.150000	0.58098	2.214000	0.71695	0.450000	0.29827	CTG		PASS	0.557	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		7	112	7	112	---	---	---	---
C16orf82	162083	broad.mit.edu	37	16	27078353	27078353	+	lincRNA	SNP	G	G	C	rs369685237	byFrequency	TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr16:27078353G>C	ENST00000505035.1	+	0	326				RP11-673P17.2_ENST00000565783.1_RNA			Q7Z2V1	TNT_HUMAN	chromosome 16 open reading frame 82																		CATTTTTCTCGAGGGAGAAAA	0.592																																						uc010vcm.1																			0					0						c.(37-39)GAG>CAG		hypothetical protein LOC162083							30.0	33.0	32.0					16																	27078353		1885	4113	5998			162083							g.chr16:27078353G>C	BC031257		16p12.1	2013-01-24			ENSG00000234186	ENSG00000234186			30755	other	unknown						12477932	Standard	NM_001145545		Approved	TNT	uc010vcm.2	Q7Z2V1	OTTHUMG00000161986		16.37:g.27078353G>C							p.E13Q	NM_001145545	NP_001139017	Q7Z2V1	TNT_HUMAN			1	135	+			76					B9EGC2|Q8NEF0	Missense_Mutation	SNP	ENST00000505035.1	37	c.37G>C																																																																																					PASS	0.592	C16orf82-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366634.1	NM_001145545		25	27	25	27	---	---	---	---
C16orf54	283897	broad.mit.edu	37	16	29755978	29755978	+	Missense_Mutation	SNP	C	C	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr16:29755978C>G	ENST00000329410.3	-	2	390	c.295G>C	c.(295-297)Gcg>Ccg	p.A99P	AC009133.17_ENST00000565600.1_RNA	NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	99						integral component of membrane (GO:0016021)		p.A99P(1)		breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						AGGGGGACCGCAGAGCCATAC	0.682																																						uc002dtp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(295-297)GCG>CCG		hypothetical protein LOC283897							11.0	11.0	11.0					16																	29755978		2171	4264	6435	SO:0001583	missense	283897					integral to membrane		g.chr16:29755978C>G	AK093000	CCDS10652.1	16p11.2	2012-10-10		2005-08-09	ENSG00000185905	ENSG00000185905			26649	protein-coding gene	gene with protein product						12975309	Standard	NM_175900		Approved	FLJ35681	uc002dtp.2	Q6UWD8	OTTHUMG00000132116	ENST00000329410.3:c.295G>C	16.37:g.29755978C>G	ENSP00000327506:p.Ala99Pro					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dtq.1_5'Flank	p.A99P	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN			2	404	-			99					A6NJR6|Q8NAB0	Missense_Mutation	SNP	ENST00000329410.3	37	c.295G>C	CCDS10652.1	.	.	.	.	.	.	.	.	.	.	C	7.882	0.730351	0.15507	.	.	ENSG00000185905	ENST00000329410	T	0.50277	0.75	5.09	1.36	0.22044	.	0.690753	0.11774	U	0.530878	T	0.29976	0.0750	N	0.19112	0.55	0.09310	N	1	P	0.47677	0.899	B	0.41988	0.372	T	0.09952	-1.0651	10	0.46703	T	0.11	-2.0135	5.7482	0.18132	0.3483:0.5462:0.0:0.1056	.	99	Q6UWD8	CP054_HUMAN	P	99	ENSP00000327506:A99P	ENSP00000327506:A99P	A	-	1	0	C16orf54	29663479	0.000000	0.05858	0.001000	0.08648	0.282000	0.26991	0.094000	0.15107	0.482000	0.27582	0.313000	0.20887	GCG		PASS	0.682	C16orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255158.1	NM_175900		3	4	3	4	---	---	---	---
ZNF48	197407	broad.mit.edu	37	16	30409782	30409782	+	Missense_Mutation	SNP	C	C	T	rs144019727		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr16:30409782C>T	ENST00000320159.2	+	2	1587	c.1211C>T	c.(1210-1212)cCt>cTt	p.P404L	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	404	Pro-rich.				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.P404L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CCACCCCCACCTCCTCTGGGC	0.667																																						uc002dya.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1210-1212)CCT>CTT		zinc finger protein 48		C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4389		0,1,2194	27.0	27.0	27.0		1211,842,1211,1211	3.3	1.0	16	dbSNP_134	27	0,8598		0,0,4299	no	missense,missense,missense,missense	ZNF48	NM_001214906.1,NM_001214907.1,NM_001214909.1,NM_152652.2	98,98,98,98	0,1,6493	TT,TC,CC		0.0,0.0228,0.0077	benign,benign,benign,benign	404/619,281/496,404/619,404/619	30409782	1,12987	2195	4299	6494	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409782C>T	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1211C>T	16.37:g.30409782C>T	ENSP00000324056:p.Pro404Leu					ZNF48_uc002dxz.1_Missense_Mutation_p.P281L	p.P404L	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN			2	1270	+			404			Pro-rich.		Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.1211C>T	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457582	0.26161	2.28E-4	0.0	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.09538	2.97	4.29	3.34	0.38264	.	0.207411	0.24419	N	0.038695	T	0.05731	0.0150	N	0.14661	0.345	0.37410	D	0.913209	P	0.34724	0.465	B	0.30646	0.118	T	0.24333	-1.0163	10	0.87932	D	0	-1.4879	7.3625	0.26754	0.0:0.8834:0.0:0.1166	.	404	Q96MX3	ZNF48_HUMAN	L	529;404	ENSP00000324056:P404L	ENSP00000324056:P404L	P	+	2	0	ZNF48	30317283	0.431000	0.25546	1.000000	0.80357	0.930000	0.56654	0.918000	0.28678	2.377000	0.81083	0.460000	0.39030	CCT		PASS	0.667	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		12	40	12	40	---	---	---	---
CDH15	1013	broad.mit.edu	37	16	89256738	89256738	+	Missense_Mutation	SNP	G	G	C	rs186344601		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr16:89256738G>C	ENST00000289746.2	+	8	1131	c.1066G>C	c.(1066-1068)Gag>Cag	p.E356Q		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	356	Cadherin 3. {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)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E356Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCTTAGGGCTGAGCGGGGCCA	0.637													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14856	0.0		0.0	False		,,,				2504	0.0					uc002fmt.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1066-1068)GAG>CAG		cadherin 15 preproprotein							28.0	28.0	28.0					16																	89256738		2193	4298	6491	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89256738G>C	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.1066G>C	16.37:g.89256738G>C	ENSP00000289746:p.Glu356Gln						p.E356Q	NM_004933	NP_004924	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	8	1143	+			356			Cadherin 3.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000289746.2	37	c.1066G>C	CCDS10976.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	0.662	-0.805222	0.02819	.	.	ENSG00000129910	ENST00000289746	T	0.49139	0.79	4.37	-0.0289	0.13920	Cadherin (4);Cadherin-like (1);	1.402390	0.05236	N	0.511340	T	0.27169	0.0666	N	0.11064	0.09	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.16867	-1.0388	10	0.27785	T	0.31	.	5.5534	0.17103	0.2762:0.3172:0.4066:0.0	.	356	P55291	CAD15_HUMAN	Q	356	ENSP00000289746:E356Q	ENSP00000289746:E356Q	E	+	1	0	CDH15	87784239	0.000000	0.05858	0.006000	0.13384	0.002000	0.02628	-0.730000	0.04915	-0.263000	0.09378	-1.102000	0.02115	GAG		PASS	0.637	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		10	26	10	26	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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	G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN)	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		420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	c.(733-735)GGC>AGC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577548C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	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.G245S|TP53_uc002gih.2_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S	p.G245S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	927	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	245		G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.733G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		PASS	0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		32	25	32	25	---	---	---	---
SLC35G3	146861	broad.mit.edu	37	17	33520323	33520323	+	Missense_Mutation	SNP	C	C	T	rs369787605		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr17:33520323C>T	ENST00000297307.5	-	1	1089	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	335						integral component of membrane (GO:0016021)		p.R335K(4)									CTCCTCCACCCTCCCTGTCCT	0.557																																						uc002hjd.2																			4	Substitution - Missense(4)		lung(2)|urinary_tract(1)|prostate(1)		0						c.(1003-1005)AGG>AAG		acyl-malonyl condensing enzyme 1							57.0	57.0	57.0					17																	33520323		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520323C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.1004G>A	17.37:g.33520323C>T	ENSP00000297307:p.Arg335Lys						p.R335K	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	1090	-			335					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.1004G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.031780	0.00410	.	.	ENSG00000164729	ENST00000297307	T	0.24723	1.84	.	.	.	.	1.165660	0.06508	N	0.737480	T	0.10723	0.0262	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	8	0.07990	T	0.79	0.0	.	.	.	.	335	Q8N808	S35G3_HUMAN	K	335	ENSP00000297307:R335K	ENSP00000297307:R335K	R	-	2	0	SLC35G3	30544436	0.002000	0.14202	0.046000	0.18839	0.046000	0.14306	-1.876000	0.01633	-2.037000	0.00920	-2.088000	0.00374	AGG		PASS	0.557	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	72	4	72	---	---	---	---
CYB561	1534	broad.mit.edu	37	17	61513431	61513431	+	Silent	SNP	G	G	A	rs372231804		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr17:61513431G>A	ENST00000392976.1	-	3	584	c.285C>T	c.(283-285)ctC>ctT	p.L95L	CYB561_ENST00000392975.2_Silent_p.L95L|CYB561_ENST00000582997.1_Silent_p.L102L|CYB561_ENST00000584031.1_Silent_p.L95L|CYB561_ENST00000582297.1_Silent_p.L95L|CYB561_ENST00000581163.1_5'UTR|CYB561_ENST00000542042.1_Silent_p.L162L|CYB561_ENST00000581573.1_Silent_p.L95L|CYB561_ENST00000448884.2_Silent_p.L95L|CYB561_ENST00000360793.3_Silent_p.L95L|CYB561_ENST00000582034.1_Silent_p.L66L	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	95	Cytochrome b561. {ECO:0000255|PROSITE- ProRule:PRU00242}.				electron transport chain (GO:0022900)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872)|transmembrane electron transfer carrier (GO:0022865)	p.L95L(1)		lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		GGGCGATGACGAGCGCAAAGA	0.617																																						uc002jap.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(283-285)CTC>CTT		cytochrome b-561							135.0	114.0	121.0					17																	61513431		2203	4300	6503	SO:0001819	synonymous_variant	1534				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding	g.chr17:61513431G>A		CCDS11636.1	17q23.3	2013-03-14	2013-03-14		ENSG00000008283	ENSG00000008283		"""Cytochrome b genes"""	2571	protein-coding gene	gene with protein product	"""ferric-chelate reductase 2"", ""cytochrome b561 family, member A1"""	600019				7959749, 23249217	Standard	XM_005257091		Approved	FRRS2, CYB561A1	uc002jas.3	P49447		ENST00000392976.1:c.285C>T	17.37:g.61513431G>A						CYB561_uc002jaq.2_Silent_p.L141L|CYB561_uc002jar.2_Silent_p.L95L|CYB561_uc002jas.2_Silent_p.L95L|CYB561_uc010ddt.2_Silent_p.L95L|CYB561_uc002jat.2_Silent_p.L95L|CYB561_uc010wpf.1_Silent_p.L95L|CYB561_uc010wpg.1_Silent_p.L66L	p.L95L	NM_001915	NP_001906	P49447	CY561_HUMAN		READ - Rectum adenocarcinoma(1115;0.0689)	2	687	-			95			Helical; (Potential).|Cytochrome b561.		B2RE96|B7Z775|D3DU11|Q5BJG9|Q9BU05|Q9BWR9	Silent	SNP	ENST00000392976.1	37	c.285C>T	CCDS11636.1																																																																																				PASS	0.617	CYB561-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444843.1	NM_001915		68	15	68	15	---	---	---	---
CD300LB	124599	broad.mit.edu	37	17	72522134	72522134	+	Silent	SNP	T	T	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr17:72522134T>A	ENST00000392621.1	-	2	238	c.234A>T	c.(232-234)ggA>ggT	p.G78G	CD300LB_ENST00000314401.3_Silent_p.G78G	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	41	Ig-like V-type.				cellular response to lipopolysaccharide (GO:0071222)|innate immune response (GO:0045087)|neutrophil mediated immunity (GO:0002446)|positive regulation of mast cell activation (GO:0033005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G78G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						AGGTCTCCCATCCTTGCTTAT	0.547																																						uc002jkx.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(232-234)GGA>GGT		CD300 molecule-like family member b							181.0	166.0	171.0					17																	72522134		2203	4300	6503	SO:0001819	synonymous_variant	124599					integral to membrane|plasma membrane	receptor activity	g.chr17:72522134T>A	AF427618	CCDS11700.1, CCDS11700.2	17q25.1	2013-01-11	2006-03-29		ENSG00000178789	ENSG00000178789		"""Immunoglobulin superfamily / V-set domain containing"""	30811	protein-coding gene	gene with protein product	"""triggering receptor expressed on myeloid cells 5"""	610705	"""CD300 antigen like family member B"""			12975309	Standard	NM_174892		Approved	TREM5, CLM7	uc002jkx.2	A8K4G0	OTTHUMG00000067606	ENST00000392621.1:c.234A>T	17.37:g.72522134T>A						CD300LB_uc010wqz.1_Silent_p.G78G	p.G78G	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN			2	247	-			41			Ig-like V-type.|Extracellular (Potential).		Q1EG73|Q8IX40|Q8N6D1	Silent	SNP	ENST00000392621.1	37	c.234A>T	CCDS11700.1																																																																																				PASS	0.547	CD300LB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145082.2	NM_174892		268	204	268	204	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50683760	50683760	+	Silent	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr18:50683760C>A	ENST00000442544.2	+	8	1912	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P	DCC_ENST00000412726.1_Silent_p.P280P|DCC_ENST00000581580.1_Silent_p.P87P|DCC_ENST00000580146.1_3'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	432	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.P432P(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTCGGCTCCCAGAGATGTGG	0.532																																						uc002lfe.1																			1	Substitution - coding silent(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(1294-1296)CCC>CCA		netrin receptor DCC precursor							184.0	171.0	175.0					18																	50683760		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50683760C>A	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1296C>A	18.37:g.50683760C>A						DCC_uc010xdr.1_Silent_p.P280P|DCC_uc010dpf.1_Silent_p.P87P	p.P432P	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	8	1883	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	432			Extracellular (Potential).|Fibronectin type-III 1.			Silent	SNP	ENST00000442544.2	37	c.1296C>A	CCDS11952.1																																																																																				PASS	0.532	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		116	60	116	60	---	---	---	---
ZNF407	55628	broad.mit.edu	37	18	72343085	72343085	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr18:72343085C>T	ENST00000299687.5	+	1	110	c.110C>T	c.(109-111)tCt>tTt	p.S37F	ZNF407_ENST00000309902.6_Missense_Mutation_p.S37F|ZNF407_ENST00000577538.1_Missense_Mutation_p.S37F|ZNF407_ENST00000582337.1_Missense_Mutation_p.S37F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	37					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.S37F(2)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGCCTGTATCTGATGTGATA	0.378																																						uc002llw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(109-111)TCT>TTT		zinc finger protein 407 isoform 1							76.0	73.0	74.0					18																	72343085		1859	4103	5962	SO:0001583	missense	55628				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:72343085C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.110C>T	18.37:g.72343085C>T	ENSP00000299687:p.Ser37Phe					ZNF407_uc010xfc.1_Missense_Mutation_p.S37F|ZNF407_uc010dqu.1_Missense_Mutation_p.S37F|ZNF407_uc002llu.2_Missense_Mutation_p.S36F	p.S37F	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN		BRCA - Breast invasive adenocarcinoma(31;0.184)	1	167	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	37					B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	37	c.110C>T	CCDS45885.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.335562	0.24253	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.11277	2.79;3.21	5.06	4.19	0.49359	.	.	.	.	.	T	0.07728	0.0194	N	0.12746	0.255	0.09310	N	1	B;B;B	0.22683	0.073;0.073;0.025	B;B;B	0.25884	0.064;0.044;0.016	T	0.37009	-0.9724	9	0.40728	T	0.16	.	12.0276	0.53380	0.0:0.9193:0.0:0.0807	.	37;37;37	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	F	37	ENSP00000299687:S37F;ENSP00000310359:S37F	ENSP00000299687:S37F	S	+	2	0	ZNF407	70472073	0.001000	0.12720	0.087000	0.20705	0.002000	0.02628	1.075000	0.30716	0.044000	0.15775	-1.151000	0.01829	TCT		PASS	0.378	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757		13	33	13	33	---	---	---	---
MED16	10025	broad.mit.edu	37	19	875420	875420	+	Missense_Mutation	SNP	G	G	A	rs559012987		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:875420G>A	ENST00000589119.1	-	9	1594	c.1595C>T	c.(1594-1596)tCg>tTg	p.S532L	MED16_ENST00000325464.1_Missense_Mutation_p.S532L|MED16_ENST00000606828.1_Intron|MED16_ENST00000269814.4_Missense_Mutation_p.S532L|MED16_ENST00000312090.6_Missense_Mutation_p.S532L|MED16_ENST00000395808.3_Missense_Mutation_p.S532L			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	532					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.S532L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|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)		CTTGCAGAGCGAGGCCTTCAT	0.667													G|||	1	0.000199681	0.0008	0.0	5008	,	,		10883	0.0		0.0	False		,,,				2504	0.0					uc002lqd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1594-1596)TCG>TTG		mediator complex subunit 16							49.0	43.0	45.0					19																	875420		2199	4299	6498	SO:0001583	missense	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:875420G>A	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1595C>T	19.37:g.875420G>A	ENSP00000464810:p.Ser532Leu					MED16_uc010drw.1_Missense_Mutation_p.S357L|MED16_uc002lqe.2_Missense_Mutation_p.S521L|MED16_uc002lqf.2_Missense_Mutation_p.S521L|MED16_uc010xfv.1_Intron|MED16_uc010xfw.1_Missense_Mutation_p.S452L|MED16_uc010xfx.1_Missense_Mutation_p.S377L|MED16_uc010xfy.1_Intron|MED16_uc010xfz.1_5'Flank	p.S532L	NM_005481	NP_005472	Q9Y2X0	MED16_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)	10	1746	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	532					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Missense_Mutation	SNP	ENST00000589119.1	37	c.1595C>T	CCDS12047.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536478	0.85812	.	.	ENSG00000175221	ENST00000325464;ENST00000312090;ENST00000395808;ENST00000269814;ENST00000534906;ENST00000537596;ENST00000540679;ENST00000538572;ENST00000541440;ENST00000424039	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.5	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.42268	0.1195	L	0.59436	1.845	0.58432	D	0.999994	P;P;P;P;P	0.47677	0.757;0.646;0.899;0.757;0.796	B;B;B;B;B	0.34242	0.11;0.059;0.178;0.11;0.176	T	0.56092	-0.8036	10	0.87932	D	0	-28.054	16.1784	0.81884	0.0:0.0:1.0:0.0	.	532;532;532;532;532	Q9Y2X0-2;E7ETV0;Q9Y2X0-4;Q9Y2X0-3;Q9Y2X0	.;.;.;.;MED16_HUMAN	L	532;532;532;532;463;388;293;291;250;532	ENSP00000325612:S532L;ENSP00000308528:S532L;ENSP00000379153:S532L;ENSP00000269814:S532L	ENSP00000269814:S532L	S	-	2	0	MED16	826420	1.000000	0.71417	0.812000	0.32479	0.845000	0.48019	7.228000	0.78079	2.047000	0.60756	0.561000	0.74099	TCG		PASS	0.667	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481		3	54	3	54	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8996458	8996459	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:8996458_8996459GC>TT	ENST00000397910.4	-	61	41316_41317	c.41113_41114GC>AA	c.(41113-41115)GCc>AAc	p.A13705N	MUC16_ENST00000380951.5_Missense_Mutation_p.A346N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13707	SEA 11. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	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.A390D(1)|p.A390G(1)|p.A13705T(1)|p.A390N(1)|p.A390T(1)|p.A13705N(1)|p.A13705D(1)|p.A13705G(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						GGTGCAGATGGCATCCACTCCA	0.55																																						uc002mkp.2																			8	Substitution - Missense(8)		lung(6)|prostate(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(41113-41115)GCC>GAC|c.(41113-41115)GCC>ACC		mucin 16																																				SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8996458G>T|g.chr19:8996459C>T	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.41113_41114delinsTT	19.37:g.8996458_8996459delinsTT	ENSP00000381008:p.Ala13705Asn					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.A522D|MUC16_uc010xki.1_RNA|MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.A522T|MUC16_uc010xki.1_RNA	p.A13705D|p.A13705T	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			61	41318|41317	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.41114C>A|c.41113G>A	CCDS54212.1																																																																																				PASS	0.550	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		9|37	73|57	9	57	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9062192	9062192	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:9062192C>T	ENST00000397910.4	-	3	25457	c.25254G>A	c.(25252-25254)ttG>ttA	p.L8418L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8420	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L8418L(2)|p.L4051L(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						TGGTCTCCCTCAATCCAGAAG	0.522																																						uc002mkp.2																			3	Substitution - coding silent(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(25252-25254)TTG>TTA		mucin 16							78.0	75.0	76.0					19																	9062192		1994	4177	6171	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9062192C>T	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.25254G>A	19.37:g.9062192C>T							p.L8418L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	25458	-			8420			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.25254G>A	CCDS54212.1																																																																																				PASS	0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		29	137	29	137	---	---	---	---
COL5A3	50509	broad.mit.edu	37	19	10088094	10088094	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:10088094C>T	ENST00000264828.3	-	43	3266	c.3181G>A	c.(3181-3183)Ggg>Agg	p.G1061R		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1061	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.G1061R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CCCAGAGGCCCCAGGGGCCCT	0.652																																						uc002mmq.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(3181-3183)GGG>AGG		collagen, type V, alpha 3 preproprotein							61.0	76.0	71.0					19																	10088094		2202	4292	6494	SO:0001583	missense	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10088094C>T	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3181G>A	19.37:g.10088094C>T	ENSP00000264828:p.Gly1061Arg						p.G1061R	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		43	3267	-			1061			Triple-helical region.		Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	c.3181G>A	CCDS12222.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.817474	0.90790	.	.	ENSG00000080573	ENST00000264828	D	0.99537	-6.11	5.34	5.34	0.76211	.	0.000000	0.64402	D	0.000001	D	0.99736	0.9896	H	0.94345	3.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97317	0.9941	10	0.87932	D	0	.	16.5459	0.84445	0.0:1.0:0.0:0.0	.	1061	P25940	CO5A3_HUMAN	R	1061	ENSP00000264828:G1061R	ENSP00000264828:G1061R	G	-	1	0	COL5A3	9949094	1.000000	0.71417	0.995000	0.50966	0.910000	0.53928	5.580000	0.67464	2.504000	0.84457	0.563000	0.77884	GGG		PASS	0.652	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		28	228	28	228	---	---	---	---
KANK2	25959	broad.mit.edu	37	19	11304017	11304017	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:11304017C>T	ENST00000586659.1	-	4	1053	c.739G>A	c.(739-741)Gag>Aag	p.E247K	KANK2_ENST00000355150.5_Missense_Mutation_p.E247K|KANK2_ENST00000589359.1_Missense_Mutation_p.E247K|KANK2_ENST00000589894.1_Missense_Mutation_p.E247K|KANK2_ENST00000432929.2_Missense_Mutation_p.E247K			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	247					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)		p.E247K(1)		endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGGCAGAGCTCGCTGCGACCC	0.647																																						uc010dxv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(739-741)GAG>AAG		ankyrin repeat domain 25 isoform 1																																				SO:0001583	missense	25959							g.chr19:11304017C>T	AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.739G>A	19.37:g.11304017C>T	ENSP00000465650:p.Glu247Lys					KANK2_uc002mqm.2_Missense_Mutation_p.E247K|KANK2_uc002mqo.3_Missense_Mutation_p.E247K|KANK2_uc002mqp.1_Missense_Mutation_p.E56K|KANK2_uc002mqq.2_Missense_Mutation_p.E247K	p.E247K	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN			6	1297	-			247					B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	ENST00000586659.1	37	c.739G>A	CCDS12255.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.508251	0.85282	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.50548	0.74;0.75	4.11	4.11	0.48088	.	0.071522	0.53938	D	0.000054	T	0.51686	0.1689	M	0.71581	2.175	0.48185	D	0.9996	B;D;P	0.62365	0.366;0.991;0.88	B;P;B	0.46510	0.028;0.519;0.177	T	0.55179	-0.8181	10	0.28530	T	0.3	-39.345	15.1195	0.72432	0.0:1.0:0.0:0.0	.	247;247;247	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	K	247	ENSP00000395650:E247K;ENSP00000347276:E247K	ENSP00000347276:E247K	E	-	1	0	KANK2	11165017	1.000000	0.71417	0.978000	0.43139	0.771000	0.43674	6.122000	0.71608	1.829000	0.53265	0.313000	0.20887	GAG		PASS	0.647	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453066.2	NM_015493		34	43	34	43	---	---	---	---
ZNF439	90594	broad.mit.edu	37	19	11978607	11978607	+	Silent	SNP	G	G	A	rs370512382		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:11978607G>A	ENST00000304030.2	+	3	923	c.723G>A	c.(721-723)ccG>ccA	p.P241P	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Silent_p.P105P	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	241					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.P241P(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAGAGAAACCGTATGAATGTA	0.363																																						uc002mss.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(721-723)CCG>CCA		zinc finger protein 439		G		0,4406		0,0,2203	83.0	83.0	83.0		723	-1.1	0.0	19		83	1,8599		0,1,4299	no	coding-synonymous	ZNF439	NM_152262.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		241/500	11978607	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978607G>A	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.723G>A	19.37:g.11978607G>A						ZNF439_uc002msr.2_Silent_p.P105P	p.P241P	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN			3	851	+			241					Q8IYZ7|Q96SU1	Silent	SNP	ENST00000304030.2	37	c.723G>A	CCDS12268.1																																																																																				PASS	0.363	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			97	107	97	107	---	---	---	---
CCDC105	126402	broad.mit.edu	37	19	15131373	15131373	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:15131373C>T	ENST00000292574.3	+	3	858	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	259						extracellular vesicular exosome (GO:0070062)		p.A259V(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CTGGAGCAGGCCAGACGCCAC	0.612																																						uc002nae.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(775-777)GCC>GTC		coiled-coil domain containing 105							58.0	52.0	54.0					19																	15131373		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15131373C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.776C>T	19.37:g.15131373C>T	ENSP00000292574:p.Ala259Val						p.A259V	NM_173482	NP_775753	Q8IYK2	CC105_HUMAN			3	875	+			259					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.776C>T	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.655931	0.67586	.	.	ENSG00000160994	ENST00000292574	T	0.02236	4.38	4.09	4.09	0.47781	.	0.000000	0.52532	D	0.000079	T	0.10078	0.0247	M	0.67953	2.075	0.29373	N	0.863842	D	0.89917	1.0	D	0.87578	0.998	T	0.00420	-1.1750	10	0.62326	D	0.03	-14.8788	12.2139	0.54396	0.0:1.0:0.0:0.0	.	259	Q8IYK2	CC105_HUMAN	V	259	ENSP00000292574:A259V	ENSP00000292574:A259V	A	+	2	0	CCDC105	14992373	0.966000	0.33281	0.978000	0.43139	0.613000	0.37349	2.315000	0.43752	1.982000	0.57802	0.558000	0.71614	GCC		PASS	0.612	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		24	37	24	37	---	---	---	---
FAM129C	199786	broad.mit.edu	37	19	17644478	17644478	+	Missense_Mutation	SNP	G	G	T	rs370043401		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:17644478G>T	ENST00000335393.4	+	5	626	c.488G>T	c.(487-489)cGc>cTc	p.R163L	FAM129C_ENST00000449408.2_5'UTR|FAM129C_ENST00000599124.1_Missense_Mutation_p.R132L|FAM129C_ENST00000595684.1_Missense_Mutation_p.R163L|FAM129C_ENST00000599164.1_Missense_Mutation_p.R132L|FAM129C_ENST00000332386.5_Missense_Mutation_p.R163L|FAM129C_ENST00000300971.2_Missense_Mutation_p.R163L|FAM129C_ENST00000601861.1_Missense_Mutation_p.R132L|FAM129C_ENST00000352727.3_Missense_Mutation_p.R163L|FAM129C_ENST00000600871.1_Missense_Mutation_p.R109L|FAM129C_ENST00000597887.1_3'UTR	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	163								p.R163L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GAATATCTCCGCCTTTTGGAT	0.547																																						uc010xpr.1																			2	Substitution - Missense(2)		lung(2)		0						c.(487-489)CGC>CTC		B-cell novel protein 1 isoform a							90.0	82.0	85.0					19																	17644478		2203	4300	6503	SO:0001583	missense	199786							g.chr19:17644478G>T	AY254198	CCDS12362.1, CCDS42521.1	19p13.11	2008-02-05				ENSG00000167483			24130	protein-coding gene	gene with protein product	B cell novel protein 1	609967				12886250	Standard	NM_173544		Approved	FLJ39802, BCNP1	uc021uqj.1	Q86XR2		ENST00000335393.4:c.488G>T	19.37:g.17644478G>T	ENSP00000335040:p.Arg163Leu					FAM129C_uc010xpq.1_Missense_Mutation_p.R163L|FAM129C_uc010xps.1_Missense_Mutation_p.R132L|FAM129C_uc010xpt.1_RNA	p.R163L	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN			5	626	+			163					B4DNU3|B4DVN7|Q7Z6H6|Q86XR3|Q86XR4|Q8TEQ3	Missense_Mutation	SNP	ENST00000335393.4	37	c.488G>T	CCDS12362.1	.	.	.	.	.	.	.	.	.	.	G	0.137	-1.106364	0.01828	.	.	ENSG00000167483	ENST00000335393;ENST00000332386;ENST00000352727;ENST00000300971;ENST00000435646	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	2.78	-4.18	0.03846	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	1.098670	0.07047	N	0.831190	T	0.10981	0.0268	L	0.36672	1.1	0.20489	N	0.999893	B;B	0.33857	0.429;0.429	B;B	0.29524	0.103;0.103	T	0.29027	-1.0025	10	0.28530	T	0.3	-2.513	8.182	0.31315	0.6477:0.0:0.3523:0.0	.	163;163	Q86XR2;Q86XR2-3	NIBL2_HUMAN;.	L	163;163;163;163;109	ENSP00000335040:R163L;ENSP00000333447:R163L;ENSP00000341067:R163L;ENSP00000300971:R163L	ENSP00000300971:R163L	R	+	2	0	FAM129C	17505478	0.000000	0.05858	0.034000	0.17996	0.351000	0.29236	-1.062000	0.03468	-0.844000	0.04184	-0.424000	0.05967	CGC		PASS	0.547	FAM129C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464206.1	NM_173544		37	86	37	86	---	---	---	---
ZNF708	7562	broad.mit.edu	37	19	21476637	21476637	+	Silent	SNP	T	T	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:21476637T>A	ENST00000356929.3	-	4	1328	c.1131A>T	c.(1129-1131)tcA>tcT	p.S377S		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	313					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.S377S(1)		breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TAGTAAGGTGTGAGGACCGGT	0.353																																						uc002npq.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(4)|skin(2)	6						c.(1129-1131)TCA>TCT		zinc finger protein 708							57.0	61.0	60.0					19																	21476637		2192	4295	6487	SO:0001819	synonymous_variant	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21476637T>A	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.1131A>T	19.37:g.21476637T>A						ZNF708_uc002npr.1_Silent_p.S313S|ZNF708_uc010ecs.1_Silent_p.S313S	p.S377S	NM_021269	NP_067092	P17019	ZN708_HUMAN			4	1329	-			377			C2H2-type 9.		Q6ZMR0	Silent	SNP	ENST00000356929.3	37	c.1131A>T	CCDS32980.1																																																																																				PASS	0.353	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1	NM_021269		44	109	44	109	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22363358	22363358	+	Silent	SNP	A	A	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:22363358A>G	ENST00000397121.2	-	3	1478	c.1161T>C	c.(1159-1161)caT>caC	p.H387H		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	387					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.H387H(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCTCTTCAGCATGAATTGCCT	0.398																																						uc002nqs.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1159-1161)CAT>CAC		zinc finger protein 676							79.0	84.0	82.0					19																	22363358		2131	4259	6390	SO:0001819	synonymous_variant	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22363358A>G	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1161T>C	19.37:g.22363358A>G							p.H387H	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	1479	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	387			C2H2-type 8.		A8MVX5	Silent	SNP	ENST00000397121.2	37	c.1161T>C	CCDS42539.1																																																																																				PASS	0.398	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		71	112	71	112	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22364229	22364229	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:22364229C>A	ENST00000397121.2	-	3	607	c.290G>T	c.(289-291)gGt>gTt	p.G97V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	97					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.G97V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTATTATAACCTTCTTTGTG	0.308																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(289-291)GGT>GTT		zinc finger protein 676							133.0	122.0	125.0					19																	22364229		1972	4181	6153	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364229C>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.290G>T	19.37:g.22364229C>A	ENSP00000380310:p.Gly97Val						p.G97V	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	608	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	97					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.290G>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	0.384	-0.927029	0.02377	.	.	ENSG00000196109	ENST00000397121	T	0.07021	3.23	0.398	-0.797	0.10909	.	.	.	.	.	T	0.09774	0.0240	L	0.42487	1.325	0.09310	N	0.999998	P	0.52061	0.95	P	0.52598	0.703	T	0.18241	-1.0343	9	0.34782	T	0.22	.	1.4405	0.02353	0.3425:0.3391:0.0:0.3184	.	97	Q8N7Q3	ZN676_HUMAN	V	97	ENSP00000380310:G97V	ENSP00000380310:G97V	G	-	2	0	ZNF676	22156069	0.000000	0.05858	0.012000	0.15200	0.147000	0.21601	-1.002000	0.03686	-0.423000	0.07394	0.186000	0.17326	GGT		PASS	0.308	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		65	138	65	138	---	---	---	---
KIRREL2	84063	broad.mit.edu	37	19	36351849	36351849	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:36351849G>A	ENST00000360202.5	+	8	1165	c.967G>A	c.(967-969)Gtg>Atg	p.V323M	KIRREL2_ENST00000592409.1_Missense_Mutation_p.V323M|KIRREL2_ENST00000262625.7_Missense_Mutation_p.V323M|KIRREL2_ENST00000347900.6_Missense_Mutation_p.V273M|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	323	Ig-like C2-type 4.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)		p.V323M(2)		breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCCGTGTCCGTGGACGTGGG	0.667																																						uc002ocb.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(967-969)GTG>ATG		kin of IRRE-like 2 isoform c							20.0	23.0	22.0					19																	36351849		2193	4290	6483	SO:0001583	missense	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351849G>A	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.967G>A	19.37:g.36351849G>A	ENSP00000353331:p.Val323Met					KIRREL2_uc002obz.3_Missense_Mutation_p.V323M|KIRREL2_uc002oca.3_Missense_Mutation_p.V273M|KIRREL2_uc002occ.3_Missense_Mutation_p.V270M|KIRREL2_uc002ocd.3_Missense_Mutation_p.V320M	p.V323M	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		8	1179	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		323			Extracellular (Potential).|Ig-like C2-type 4.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Missense_Mutation	SNP	ENST00000360202.5	37	c.967G>A	CCDS12481.1	.	.	.	.	.	.	.	.	.	.	g	17.24	3.339169	0.60963	.	.	ENSG00000126259	ENST00000262625;ENST00000347900;ENST00000360202;ENST00000341658	T;T;T	0.16597	2.33;2.33;2.33	4.35	4.35	0.52113	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.162209	0.29073	N	0.013230	T	0.48519	0.1504	M	0.91354	3.2	0.43756	D	0.996265	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.996;0.999;0.998;0.998	T	0.58482	-0.7629	10	0.72032	D	0.01	-10.4591	12.2704	0.54702	0.0:0.0:1.0:0.0	.	323;303;323;273;323	F1T0I2;Q6UWL6-4;Q6UWL6;Q6UWL6-3;Q6UWL6-2	.;.;KIRR2_HUMAN;.;.	M	323;273;323;303	ENSP00000262625:V323M;ENSP00000345067:V273M;ENSP00000353331:V323M	ENSP00000262625:V323M	V	+	1	0	KIRREL2	41043689	1.000000	0.71417	0.810000	0.32431	0.033000	0.12548	4.514000	0.60482	2.267000	0.75376	0.298000	0.19748	GTG		PASS	0.667	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123		17	48	17	48	---	---	---	---
SIPA1L3	23094	broad.mit.edu	37	19	38591796	38591796	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:38591796C>T	ENST00000222345.6	+	6	2468	c.1959C>T	c.(1957-1959)ttC>ttT	p.F653F		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	653	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)	p.F653F(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TTGAGGAGTTCCTCTCCCTCA	0.597																																						uc002ohk.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1957-1959)TTC>TTT		signal-induced proliferation-associated 1 like							38.0	38.0	38.0					19																	38591796		2203	4300	6503	SO:0001819	synonymous_variant	23094				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr19:38591796C>T	AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1959C>T	19.37:g.38591796C>T							p.F653F	NM_015073	NP_055888	O60292	SI1L3_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		6	2468	+			653			Rap-GAP.		Q2TV87	Silent	SNP	ENST00000222345.6	37	c.1959C>T	CCDS33007.1																																																																																				PASS	0.597	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156294.2	XM_032278		5	9	5	9	---	---	---	---
CYP2A6	1548	broad.mit.edu	37	19	41351257	41351257	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:41351257A>G	ENST00000301141.5	-	7	1123	c.1103T>C	c.(1102-1104)aTg>aCg	p.M368T	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	368					coumarin catabolic process (GO:0046226)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)	coumarin 7-hydroxylase activity (GO:0008389)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.M368T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Acetaminophen(DB00316)|Amiodarone(DB01118)|Amlodipine(DB00381)|Amobarbital(DB01351)|Amphetamine(DB00182)|Antipyrine(DB01435)|Arformoterol(DB01274)|Azelastine(DB00972)|Azithromycin(DB00207)|Buprenorphine(DB00921)|Bupropion(DB01156)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Cisapride(DB00604)|Clofibrate(DB00636)|Clomifene(DB00882)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Dapagliflozin(DB06292)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Diethylstilbestrol(DB00255)|Dronabinol(DB00470)|Eletriptan(DB00216)|Ezogabine(DB04953)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Flurazepam(DB00690)|Fomepizole(DB01213)|Formoterol(DB00983)|Halothane(DB01159)|Ifosfamide(DB01181)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Letrozole(DB01006)|Lidocaine(DB00281)|Lorcaserin(DB04871)|Memantine(DB01043)|Menadione(DB00170)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Miconazole(DB01110)|Montelukast(DB00471)|Nevirapine(DB00238)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Norfloxacin(DB01059)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Prednisolone(DB00860)|Progesterone(DB00396)|Propofol(DB00818)|Rifampicin(DB01045)|Rosiglitazone(DB00412)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tranylcypromine(DB00752)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Zidovudine(DB00495)	GGCCAAACTCATGGGGATCAC	0.567																																						uc002opl.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1102-1104)ATG>ACG		cytochrome P450, family 2, subfamily A,	Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)						123.0	118.0	120.0					19																	41351257		2203	4300	6503	SO:0001583	missense	1548				coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding	g.chr19:41351257A>G	AF182275	CCDS12568.1	19q13.2	2013-11-11	2003-01-14		ENSG00000255974	ENSG00000255974		"""Cytochrome P450s"""	2610	protein-coding gene	gene with protein product		122720	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 6"""	CYP2A3		7668294, 2748347	Standard	NM_000762		Approved	CPA6, CYP2A	uc002opl.4	P11509	OTTHUMG00000182713	ENST00000301141.5:c.1103T>C	19.37:g.41351257A>G	ENSP00000301141:p.Met368Thr					CYP2A6_uc010ehe.1_Missense_Mutation_p.M164T	p.M368T	NM_000762	NP_000753	P11509	CP2A6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		7	1124	-			368					A7YAE5|B2R7F6|P00190|P10890|Q16803|Q4VAT9|Q4VAU0|Q4VAU1|Q9H1Z7|Q9UCU0|Q9UK48	Missense_Mutation	SNP	ENST00000301141.5	37	c.1103T>C	CCDS12568.1	.	.	.	.	.	.	.	.	.	.	-	0.084	-1.178500	0.01633	.	.	ENSG00000255974	ENST00000301141	T	0.67865	-0.29	2.76	2.76	0.32466	.	0.117868	0.56097	U	0.000024	T	0.49795	0.1578	N	0.25890	0.77	0.27185	N	0.96057	B;B	0.28082	0.2;0.01	B;B	0.35278	0.199;0.061	T	0.37150	-0.9718	10	0.06891	T	0.86	.	10.4092	0.44282	1.0:0.0:0.0:0.0	.	368;368	Q13120;P11509	.;CP2A6_HUMAN	T	368	ENSP00000301141:M368T	ENSP00000301141:M368T	M	-	2	0	CYP2A6	46043097	0.603000	0.26924	0.702000	0.30337	0.253000	0.25986	5.500000	0.66943	1.219000	0.43474	0.312000	0.20444	ATG		PASS	0.567	CYP2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463259.1	NM_000762		6	244	6	244	---	---	---	---
AXL	558	broad.mit.edu	37	19	41726677	41726677	+	Silent	SNP	G	G	A	rs55690306		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:41726677G>A	ENST00000301178.4	+	2	412	c.222G>A	c.(220-222)caG>caA	p.Q74Q	AXL_ENST00000594880.1_3'UTR|CTD-2195B23.3_ENST00000598541.1_RNA|AXL_ENST00000359092.3_Silent_p.Q74Q	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	74	Ig-like C2-type 1.|Interaction with GAS6.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.Q74Q(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGGATGGACAGATCCTGGAGC	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		17053	0.001		0.0	False		,,,				2504	0.0					uc010ehj.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(220-222)CAG>CAA		AXL receptor tyrosine kinase isoform 1							61.0	58.0	59.0					19																	41726677		2203	4300	6503	SO:0001819	synonymous_variant	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41726677G>A	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.222G>A	19.37:g.41726677G>A						CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Silent_p.Q74Q|AXL_uc010ehk.2_Silent_p.Q74Q	p.Q74Q	NM_021913	NP_068713	P30530	UFO_HUMAN			2	412	+			74			Extracellular (Potential).|Interaction with GAS6.|Ig-like C2-type 1.		Q8N5L2|Q9UD27	Silent	SNP	ENST00000301178.4	37	c.222G>A	CCDS12575.1																																																																																				PASS	0.622	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			22	69	22	69	---	---	---	---
MIR518A2	574491	broad.mit.edu	37	19	54244601	54244601	+	RNA	SNP	A	A	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:54244601A>C	ENST00000384966.1	+	0	87				MIR520H_ENST00000385126.1_RNA|MIR517C_ENST00000385103.1_RNA	NR_030213.1				microRNA 518a-2																		AGATGGAAGCACTGTCTGTTG	0.348																																						hsa-mir-517c|MI0003174																			0					0															153.0	135.0	141.0					19																	54244601		1568	3582	5150			574492							g.chr19:54244601A>C			19q13.42	2011-09-12		2008-12-18	ENSG00000207699	ENSG00000207699		"""ncRNAs / Micro RNAs"""	32123	non-coding RNA	RNA, micro				MIRN518A-2, MIRN518A2			Standard	NR_030213		Approved	hsa-mir-518a-2	uc021vaq.1				19.37:g.54244601A>C						MIR520H_hsa-mir-520h|MI0003175_5'Flank|uc010yeb.1_5'Flank										+									RNA	SNP	ENST00000384966.1	37	c.35A>C																																																																																					PASS	0.348	MIR518A2-201	KNOWN	basic	miRNA	miRNA		NR_030213		24	55	24	55	---	---	---	---
MIR518A2	574491	broad.mit.edu	37	19	54244630	54244630	+	RNA	SNP	A	A	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:54244630A>T	ENST00000384966.1	+	0	87				MIR520H_ENST00000385126.1_RNA|MIR517C_ENST00000385103.1_RNA	NR_030213.1				microRNA 518a-2																		AAGATCGTGCATCCTTTTAGA	0.408																																						hsa-mir-517c|MI0003174																			0					0															142.0	126.0	131.0					19																	54244630		1568	3582	5150			574492							g.chr19:54244630A>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207699	ENSG00000207699		"""ncRNAs / Micro RNAs"""	32123	non-coding RNA	RNA, micro				MIRN518A-2, MIRN518A2			Standard	NR_030213		Approved	hsa-mir-518a-2	uc021vaq.1				19.37:g.54244630A>T						MIR520H_hsa-mir-520h|MI0003175_5'Flank|uc010yeb.1_5'Flank										+									RNA	SNP	ENST00000384966.1	37	c.64A>T																																																																																					PASS	0.408	MIR518A2-201	KNOWN	basic	miRNA	miRNA		NR_030213		24	36	24	36	---	---	---	---
NLRP5	126206	broad.mit.edu	37	19	56539488	56539488	+	Nonsense_Mutation	SNP	C	C	A	rs369074191		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr19:56539488C>A	ENST00000390649.3	+	7	1889	c.1889C>A	c.(1888-1890)tCg>tAg	p.S630*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	630					cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.S630*(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CATATCCACTCGCTTTGGATG	0.562																																						uc002qmj.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|skin(2)|kidney(1)|central_nervous_system(1)	7						c.(1888-1890)TCG>TAG		NACHT, LRR and PYD containing protein 5							65.0	66.0	66.0					19																	56539488		1965	4142	6107	SO:0001587	stop_gained	126206					mitochondrion|nucleolus	ATP binding	g.chr19:56539488C>A	AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1889C>A	19.37:g.56539488C>A	ENSP00000375063:p.Ser630*					NLRP5_uc002qmi.2_Nonsense_Mutation_p.S611*	p.S630*	NM_153447	NP_703148	P59047	NALP5_HUMAN		GBM - Glioblastoma multiforme(193;0.0326)	7	1889	+		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)	630					A8MTY4|Q86W29	Nonsense_Mutation	SNP	ENST00000390649.3	37	c.1889C>A	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419502	0.83559	.	.	ENSG00000171487	ENST00000390649	.	.	.	3.26	2.23	0.28157	.	0.368803	0.14395	N	0.322291	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	5.1829	0.15169	0.0:0.1362:0.0:0.8638	.	.	.	.	X	630	.	ENSP00000375063:S630X	S	+	2	0	NLRP5	61231300	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.510000	0.22723	0.637000	0.30526	-0.340000	0.08031	TCG		PASS	0.562	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447		47	34	47	34	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3670823	3670823	+	Silent	SNP	C	C	T	rs145129138	byFrequency	TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr20:3670823C>T	ENST00000344754.4	-	18	4679	c.4680G>A	c.(4678-4680)ccG>ccA	p.P1560P	SIGLEC1_ENST00000202578.4_Silent_p.P1560P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1560	Ig-like C2-type 16.				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.P1560P(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						GGCTGGCGAGCGGCTCGCTGT	0.657													C|||	6	0.00119808	0.0	0.0	5008	,	,		16951	0.005		0.001	False		,,,				2504	0.0					uc002wja.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1)	10						c.(4678-4680)CCG>CCA		sialoadhesin precursor							18.0	14.0	15.0					20																	3670823		2193	4287	6480	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3670823C>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.4680G>A	20.37:g.3670823C>T						SIGLEC1_uc002wjb.1_Silent_p.P199P|SIGLEC1_uc002wiz.3_Silent_p.P1560P	p.P1560P	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN			18	4680	-			1560			Ig-like C2-type 16.|Extracellular (Potential).		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.4680G>A	CCDS13060.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	3.594	-0.083057	0.07141	.	.	ENSG00000088827	ENST00000419548	.	.	.	5.48	-1.46	0.08800	.	.	.	.	.	T	0.42517	0.1206	.	.	.	0.40473	D	0.980369	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	.	6.3245	0.21237	0.0765:0.4835:0.3052:0.1348	.	.	.	.	T	374	.	.	A	-	1	0	SIGLEC1	3618823	0.001000	0.12720	0.016000	0.15963	0.541000	0.35023	-0.106000	0.10890	-0.539000	0.06273	-1.021000	0.02439	GCT		PASS	0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		4	4	4	4	---	---	---	---
KIAA1755	85449	broad.mit.edu	37	20	36854088	36854088	+	Silent	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr20:36854088G>T	ENST00000279024.4	-	8	2419	c.2148C>A	c.(2146-2148)acC>acA	p.T716T		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	716								p.T716T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GAACCCACTCGGTGTGGCAGT	0.582																																						uc002xhy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(2146-2148)ACC>ACA		hypothetical protein LOC85449							65.0	66.0	66.0					20																	36854088		2203	4300	6503	SO:0001819	synonymous_variant	85449							g.chr20:36854088G>T	AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.2148C>A	20.37:g.36854088G>T						KIAA1755_uc002xhx.1_5'Flank|KIAA1755_uc002xhz.1_Silent_p.T716T	p.T716T	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN			8	2420	-		Myeloproliferative disorder(115;0.00874)	716					Q9C0A8	Silent	SNP	ENST00000279024.4	37	c.2148C>A	CCDS33467.1																																																																																				PASS	0.582	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079144.3	NM_001029864		27	39	27	39	---	---	---	---
SEMG2	6407	broad.mit.edu	37	20	43851856	43851856	+	Missense_Mutation	SNP	G	G	T	rs557609531		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr20:43851856G>T	ENST00000372769.3	+	2	1673	c.1583G>T	c.(1582-1584)gGt>gTt	p.G528V		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	528	Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.G528V(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GGAAAGTCTGGTCAATCTGCA	0.383																																						uc010ggz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1582-1584)GGT>GTT		semenogelin II precursor							95.0	81.0	86.0					20																	43851856		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851856G>T		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1583G>T	20.37:g.43851856G>T	ENSP00000361855:p.Gly528Val					SEMG2_uc002xnk.2_Missense_Mutation_p.G528V|SEMG2_uc002xnl.2_Missense_Mutation_p.G408V	p.G528V	NM_003008	NP_002999	Q02383	SEMG2_HUMAN			2	1640	+		Myeloproliferative disorder(115;0.0122)	528			Repeat-rich region.|3-2.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.1583G>T	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	8.619	0.891009	0.17613	.	.	ENSG00000124157	ENST00000372769	T	0.19250	2.16	1.52	-1.48	0.08745	.	.	.	.	.	T	0.22475	0.0542	M	0.62723	1.935	0.09310	N	1	B;P	0.45634	0.322;0.863	B;P	0.48063	0.296;0.565	T	0.18398	-1.0338	9	0.22109	T	0.4	.	4.6534	0.12606	0.5485:0.0:0.4515:0.0	.	528;528	A8K6Z6;Q02383	.;SEMG2_HUMAN	V	528	ENSP00000361855:G528V	ENSP00000361855:G528V	G	+	2	0	SEMG2	43285270	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.818000	0.04467	-0.453000	0.07076	0.655000	0.94253	GGT		PASS	0.383	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	NM_003008		35	46	35	46	---	---	---	---
TSHZ2	128553	broad.mit.edu	37	20	51872569	51872569	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr20:51872569G>T	ENST00000371497.5	+	2	3459	c.2572G>T	c.(2572-2574)Gcc>Tcc	p.A858S	TSHZ2_ENST00000603338.2_Missense_Mutation_p.A855S|TSHZ2_ENST00000329613.6_Missense_Mutation_p.A855S|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	858					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A858S(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GATTCTACAAGCCCAGTTTGC	0.493																																						uc002xwo.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6						c.(2572-2574)GCC>TCC		teashirt zinc finger homeobox 2							59.0	60.0	60.0					20																	51872569		2203	4300	6503	SO:0001583	missense	128553				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:51872569G>T	AF230201	CCDS33490.1, CCDS54474.1	20q13.2	2013-11-20	2007-07-16	2006-03-14	ENSG00000182463	ENSG00000182463		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	13010	protein-coding gene	gene with protein product		614118	"""chromosome 20 open reading frame 17"", ""zinc finger protein 218"", ""teashirt family zinc finger 2"""	C20orf17, ZNF218		9671742	Standard	NM_173485		Approved	ZABC2, OVC10-2, TSH2	uc021wex.1	Q9NRE2	OTTHUMG00000033058	ENST00000371497.5:c.2572G>T	20.37:g.51872569G>T	ENSP00000360552:p.Ala858Ser						p.A858S	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	STAD - Stomach adenocarcinoma(23;0.1)		2	3528	+			858			Homeobox; atypical.		B7Z7W1|J3KNQ0|Q4VXM4|Q6N003|Q8N260	Missense_Mutation	SNP	ENST00000371497.5	37	c.2572G>T	CCDS33490.1	.	.	.	.	.	.	.	.	.	.	G	19.33	3.806255	0.70682	.	.	ENSG00000182463	ENST00000371497;ENST00000329613;ENST00000450262	T;T	0.27557	1.67;1.66	5.52	5.52	0.82312	Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.52725	0.1752	L	0.49126	1.545	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.52749	-0.8534	10	0.87932	D	0	-1.154	19.4542	0.94880	0.0:0.0:1.0:0.0	.	858	Q9NRE2	TSH2_HUMAN	S	858;855;384	ENSP00000360552:A858S;ENSP00000333114:A855S	ENSP00000333114:A855S	A	+	1	0	TSHZ2	51305976	1.000000	0.71417	0.995000	0.50966	0.510000	0.34073	9.470000	0.97683	2.592000	0.87571	0.643000	0.83706	GCC		PASS	0.493	TSHZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080398.6	NM_173485		38	72	38	72	---	---	---	---
DOK5	55816	broad.mit.edu	37	20	53205081	53205081	+	Silent	SNP	T	T	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr20:53205081T>C	ENST00000262593.5	+	3	584	c.234T>C	c.(232-234)caT>caC	p.H78H	DOK5_ENST00000395939.1_5'UTR	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	78	PH.				MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)	p.H78H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CCAAGAAACATGCCATAGGGA	0.418																																						uc002xwy.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(232-234)CAT>CAC		docking protein 5							170.0	162.0	165.0					20																	53205081		2203	4300	6503	SO:0001819	synonymous_variant	55816						insulin receptor binding	g.chr20:53205081T>C	AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.234T>C	20.37:g.53205081T>C						DOK5_uc010gin.2_5'UTR|DOK5_uc002xwz.2_5'UTR	p.H78H	NM_018431	NP_060901	Q9P104	DOK5_HUMAN	Colorectal(105;0.202)		3	454	+			78			PH.		Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Silent	SNP	ENST00000262593.5	37	c.234T>C	CCDS13446.1																																																																																				PASS	0.418	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079777.2			10	252	10	252	---	---	---	---
C20orf166	128826	broad.mit.edu	37	20	61151580	61151580	+	Intron	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr20:61151580C>T	ENST00000370527.3	+	2	787				C20orf166-AS1_ENST00000412495.1_RNA|C20orf166-AS1_ENST00000436101.1_RNA|MIR1-1_ENST00000362147.1_RNA|C20orf166-AS1_ENST00000475015.1_RNA|C20orf166_ENST00000370524.2_Intron|C20orf166_ENST00000370523.1_Intron	NM_178463.3	NP_848558.1			chromosome 20 open reading frame 166											endometrium(1)|kidney(1)|lung(2)	4	Breast(26;1.04e-08)		BRCA - Breast invasive adenocarcinoma(19;7.17e-06)			AAGTATGTATCTCAGGCCGGG	0.602																																						hsa-mir-1-1|MI0000651																			0					0															107.0	106.0	106.0					20																	61151580		1568	3582	5150	SO:0001627	intron_variant	406904							g.chr20:61151580C>T	AL449263	CCDS46627.1	20q13.33	2014-01-21			ENSG00000174407	ENSG00000174407			16159	protein-coding gene	gene with protein product	"""MIR133A2 host gene"""						Standard	NM_178463		Approved	dJ353C17.1, MIR1-1HG, MIR133A2HG	uc011aaj.2	Q9H1L0	OTTHUMG00000048000	ENST00000370527.3:c.8+708C>T	20.37:g.61151580C>T						C20orf200_uc002ycy.2_5'Flank|C20orf200_uc002ycz.1_5'Flank|C20orf166_uc011aaj.1_Intron|uc011aak.1_RNA										+									RNA	SNP	ENST00000370527.3	37	c.68C>T	CCDS46627.1																																																																																				PASS	0.602	C20orf166-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109262.1	NM_178463		65	119	65	119	---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62038507	62038507	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr20:62038507C>T	ENST00000359125.2	-	17	2283	c.2109G>A	c.(2107-2109)gcG>gcA	p.A703A	KCNQ2_ENST00000354587.3_Silent_p.A711A|KCNQ2_ENST00000357249.2_Silent_p.A685A|KCNQ2_ENST00000359689.1_Silent_p.A703A|KCNQ2_ENST00000360480.3_Silent_p.A675A|KCNQ2_ENST00000344462.4_Silent_p.A672A|KCNQ2_ENST00000370224.1_Silent_p.A711A	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	703					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.A703A(1)		biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	cggccgggggcgccgAGAAGT	0.711																																						uc002yey.1																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(2107-2109)GCG>GCA		potassium voltage-gated channel KQT-like protein	Amitriptyline(DB00321)						6.0	7.0	7.0					20																	62038507		2106	4178	6284	SO:0001819	synonymous_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62038507C>T	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.2109G>A	20.37:g.62038507C>T						KCNQ2_uc002yez.1_Silent_p.A672A|KCNQ2_uc002yfa.1_Silent_p.A685A|KCNQ2_uc002yfb.1_Silent_p.A675A	p.A703A	NM_172107	NP_742105	O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		17	2286	-	all_cancers(38;1.24e-11)		703			Cytoplasmic (Potential).		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Silent	SNP	ENST00000359125.2	37	c.2109G>A	CCDS13520.1																																																																																				PASS	0.711	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		3	4	3	4	---	---	---	---
KRTAP21-1	337977	broad.mit.edu	37	21	32127623	32127623	+	Missense_Mutation	SNP	C	C	G	rs147233060		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr21:32127623C>G	ENST00000335093.3	-	1	123	c.74G>C	c.(73-75)gGc>gCc	p.G25A		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	25						intermediate filament (GO:0005882)		p.G25A(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						acagccacagccagagccaga	0.537																																						uc011adi.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(73-75)GGC>GCC		keratin associated protein 21-1							123.0	108.0	113.0					21																	32127623		2203	4300	6503	SO:0001583	missense	337977					intermediate filament		g.chr21:32127623C>G	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"""Keratin associated proteins"""	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.74G>C	21.37:g.32127623C>G	ENSP00000335566:p.Gly25Ala						p.G25A	NM_181619	NP_853650	Q3LI58	KR211_HUMAN			1	74	-			25						Missense_Mutation	SNP	ENST00000335093.3	37	c.74G>C	CCDS13606.1	.	.	.	.	.	.	.	.	.	.	C	3.683	-0.065114	0.07273	.	.	ENSG00000187005	ENST00000335093	.	.	.	4.1	4.1	0.47936	.	.	.	.	.	T	0.53400	0.1794	.	.	.	0.09310	N	0.999991	D	0.89917	1.0	D	0.91635	0.999	T	0.38045	-0.9679	7	0.16420	T	0.52	.	12.1329	0.53952	0.0:1.0:0.0:0.0	.	25	Q3LI58	KR211_HUMAN	A	25	.	ENSP00000335566:G25A	G	-	2	0	KRTAP21-1	31049494	0.000000	0.05858	0.345000	0.25642	0.007000	0.05969	-0.777000	0.04669	2.547000	0.85894	0.655000	0.94253	GGC		PASS	0.537	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2			49	63	49	63	---	---	---	---
BACE2	25825	broad.mit.edu	37	21	42613849	42613849	+	Missense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr21:42613849G>T	ENST00000330333.6	+	4	1185	c.722G>T	c.(721-723)gGa>gTa	p.G241V	BACE2_ENST00000328735.6_Missense_Mutation_p.G241V|BACE2_ENST00000347667.5_Missense_Mutation_p.G241V|BACE2_ENST00000466122.1_3'UTR	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	241					membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)	p.G241V(1)		endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				CCCGTTGCTGGATCTGGGACC	0.478																																						uc002yyw.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(721-723)GGA>GTA		beta-site APP-cleaving enzyme 2 isoform A							175.0	182.0	179.0					21																	42613849		2203	4300	6503	SO:0001583	missense	25825				membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity	g.chr21:42613849G>T	AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.722G>T	21.37:g.42613849G>T	ENSP00000332979:p.Gly241Val					BACE2_uc002yyx.2_Missense_Mutation_p.G241V|BACE2_uc002yyy.2_Missense_Mutation_p.G241V	p.G241V	NM_012105	NP_036237	Q9Y5Z0	BACE2_HUMAN			4	1185	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)	241			Extracellular (Potential).		A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Missense_Mutation	SNP	ENST00000330333.6	37	c.722G>T	CCDS13668.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274625	0.40194	.	.	ENSG00000182240	ENST00000330333;ENST00000347667;ENST00000328735;ENST00000544566	T;T;T	0.44482	0.92;0.92;0.92	5.53	4.64	0.57946	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.343710	0.33610	N	0.004725	T	0.32346	0.0826	N	0.26042	0.785	0.80722	D	1	B;P;P	0.43788	0.356;0.817;0.734	B;B;B	0.41036	0.133;0.276;0.346	T	0.10177	-1.0641	10	0.45353	T	0.12	.	13.7661	0.62995	0.0745:0.0:0.9255:0.0	.	241;241;241	Q9Y5Z0-3;Q9Y5Z0-2;Q9Y5Z0	.;.;BACE2_HUMAN	V	241;241;241;146	ENSP00000332979:G241V;ENSP00000327528:G241V;ENSP00000333854:G241V	ENSP00000333854:G241V	G	+	2	0	BACE2	41535719	1.000000	0.71417	0.744000	0.31058	0.814000	0.46013	4.748000	0.62148	2.605000	0.88082	0.655000	0.94253	GGA		PASS	0.478	BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1			172	254	172	254	---	---	---	---
LARGE	9215	broad.mit.edu	37	22	34046524	34046524	+	Silent	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr22:34046524G>A	ENST00000354992.2	-	4	808	c.237C>T	c.(235-237)ctC>ctT	p.L79L	LARGE_ENST00000397394.2_Silent_p.L79L|LARGE_ENST00000402320.1_Silent_p.L79L|LARGE_ENST00000437602.2_Silent_p.L79L|LARGE_ENST00000337431.2_Silent_p.L79L	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	79					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)	p.L79L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCTGCCTGCGGAGGGCGCGGT	0.692																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(235-237)CTC>CTT		like-glycosyltransferase							45.0	43.0	44.0					22																	34046524		2203	4298	6501	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:34046524G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.237C>T	22.37:g.34046524G>A						LARGE_uc003ane.3_Silent_p.L79L|LARGE_uc010gwp.2_Silent_p.L79L|LARGE_uc011ame.1_Silent_p.L11L|LARGE_uc011amf.1_Silent_p.L79L	p.L79L	NM_004737	NP_004728	O95461	LARGE_HUMAN			4	816	-		Lung NSC(1;0.219)	79			Lumenal (Potential).|Potential.		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.237C>T	CCDS13912.1																																																																																				PASS	0.692	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		65	113	65	113	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38121247	38121247	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr22:38121247C>T	ENST00000406386.3	+	7	2939	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	895					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.S895L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCCAGGAATTCATCTCCCCAT	0.547																																						uc003atr.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2683-2685)TCA>TTA		TRIO and F-actin binding protein isoform 6							139.0	152.0	148.0					22																	38121247		2023	4162	6185	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121247C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2684C>T	22.37:g.38121247C>T	ENSP00000384312:p.Ser895Leu					TRIOBP_uc003atu.2_Missense_Mutation_p.S723L|TRIOBP_uc003atq.1_Missense_Mutation_p.S895L|TRIOBP_uc003ats.1_Missense_Mutation_p.S723L	p.S895L	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	2955	+	Melanoma(58;0.0574)		895					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2684C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499051	0.44455	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.25414	1.8	4.18	1.93	0.25924	.	.	.	.	.	T	0.24044	0.0582	M	0.64404	1.975	0.09310	N	0.999997	B	0.25105	0.118	B	0.19666	0.026	T	0.18777	-1.0326	9	0.45353	T	0.12	.	6.8351	0.23931	0.2026:0.6014:0.196:0.0	.	895	Q9H2D6	TARA_HUMAN	L	895	ENSP00000384312:S895L	ENSP00000384312:S895L	S	+	2	0	TRIOBP	36451193	0.020000	0.18652	0.031000	0.17742	0.132000	0.20833	1.203000	0.32284	0.637000	0.30526	0.558000	0.71614	TCA		PASS	0.547	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			133	344	133	344	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40816474	40816474	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr22:40816474G>A	ENST00000355630.3	-	11	1578	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	MKL1_ENST00000407029.1_Missense_Mutation_p.R330C|MKL1_ENST00000396617.3_Missense_Mutation_p.R330C|MKL1_ENST00000402042.1_Missense_Mutation_p.R280C	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	330					negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R330C(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTGTTCTGACGTGCCAGCCCA	0.657			T	RBM15	acute megakaryocytic leukemia																																	uc003ayv.1				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)|breast(1)|central_nervous_system(1)	5						c.(988-990)CGT>TGT		megakaryoblastic leukemia 1 protein							53.0	59.0	57.0					22																	40816474		2203	4300	6503	SO:0001583	missense	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40816474G>A	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.988C>T	22.37:g.40816474G>A	ENSP00000347847:p.Arg330Cys					MKL1_uc003ayw.1_Missense_Mutation_p.R330C|MKL1_uc010gye.1_Missense_Mutation_p.R330C|MKL1_uc010gyf.1_Missense_Mutation_p.R280C	p.R330C	NM_020831	NP_065882	Q969V6	MKL1_HUMAN			8	1195	-			330					Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	ENST00000355630.3	37	c.988C>T	CCDS14003.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016667	0.75161	.	.	ENSG00000196588	ENST00000355630;ENST00000396617;ENST00000402042;ENST00000407029	T;T;T;T	0.50001	0.79;0.76;0.77;0.79	4.87	3.81	0.43845	.	0.116061	0.56097	D	0.000023	T	0.46698	0.1406	N	0.08118	0	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.992;0.93;0.93	T	0.54984	-0.8211	10	0.62326	D	0.03	-3.3487	12.0272	0.53377	0.0:0.0:0.6887:0.3113	.	280;330;330	B0QY83;E7ER32;Q969V6	.;.;MKL1_HUMAN	C	330;330;280;330	ENSP00000347847:R330C;ENSP00000379861:R330C;ENSP00000385584:R280C;ENSP00000385835:R330C	ENSP00000347847:R330C	R	-	1	0	MKL1	39146420	0.999000	0.42202	0.803000	0.32268	0.966000	0.64601	2.739000	0.47409	1.218000	0.43458	0.561000	0.74099	CGT		PASS	0.657	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		117	84	117	84	---	---	---	---
TTLL12	23170	broad.mit.edu	37	22	43564146	43564146	+	Silent	SNP	C	C	T	rs142420296		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr22:43564146C>T	ENST00000216129.6	-	14	1866	c.1803G>A	c.(1801-1803)ccG>ccA	p.P601P	TTLL12_ENST00000494035.1_Silent_p.P22P	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	601	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)			p.P601P(2)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCAGGATCTGCGGCTGCATCA	0.597																																						uc003bdq.2																			2	Substitution - coding silent(2)		prostate(1)|lung(1)	central_nervous_system(1)	1						c.(1801-1803)CCG>CCA		tubulin tyrosine ligase-like family, member 12							136.0	108.0	117.0					22																	43564146		2203	4300	6503	SO:0001819	synonymous_variant	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43564146C>T	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1803G>A	22.37:g.43564146C>T						TTLL12_uc003bdp.2_3'UTR|TTLL12_uc003bdr.1_Silent_p.P601P	p.P601P	NM_015140	NP_055955	Q14166	TTL12_HUMAN			14	1835	-		Ovarian(80;0.221)|Glioma(61;0.222)	601			TTL.		Q20WK5|Q9UGU3	Silent	SNP	ENST00000216129.6	37	c.1803G>A	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372027	0.24857	.	.	ENSG00000100304	ENST00000357017	.	.	.	5.13	-10.3	0.00346	.	.	.	.	.	T	0.52821	0.1758	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68221	-0.5466	5	0.72032	D	0.01	-16.0907	6.4166	0.21719	0.0918:0.0976:0.5018:0.3088	.	.	.	.	T	201	.	ENSP00000349521:A201T	A	-	1	0	TTLL12	41894090	0.086000	0.21541	0.422000	0.26621	0.982000	0.71751	-0.541000	0.06099	-2.391000	0.00586	0.491000	0.48974	GCA		PASS	0.597	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1	NM_015140		51	83	51	83	---	---	---	---
CLCN4	1183	broad.mit.edu	37	X	10163115	10163115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:10163115G>T	ENST00000380833.4	+	5	800	c.409G>T	c.(409-411)Gag>Tag	p.E137*	CLCN4_ENST00000421085.2_Nonsense_Mutation_p.E43*|CLCN4_ENST00000380829.1_Nonsense_Mutation_p.E137*	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	137					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.E137*(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GAAATGGTCGGAGCTGCTGGT	0.557																																					Melanoma(74;1050 1296 1576 30544 38374)	uc004csy.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(409-411)GAG>TAG		chloride channel 4							106.0	92.0	97.0					X																	10163115		2203	4300	6503	SO:0001587	stop_gained	1183					early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	g.chrX:10163115G>T	X77197	CCDS14137.1, CCDS59159.1	Xp22.3	2012-09-26	2012-02-23		ENSG00000073464	ENSG00000073464		"""Ion channels / Chloride channels : Voltage-sensitive"""	2022	protein-coding gene	gene with protein product		302910	"""chloride channel 4"""			8069296	Standard	NM_001830		Approved	CLC4, ClC-4	uc004csy.4	P51793	OTTHUMG00000021125	ENST00000380833.4:c.409G>T	X.37:g.10163115G>T	ENSP00000370213:p.Glu137*					CLCN4_uc011mid.1_Nonsense_Mutation_p.E43*	p.E137*	NM_001830	NP_001821	P51793	CLCN4_HUMAN			5	839	+			137					A1L3U1|B7Z5Z4|Q9UBU1	Nonsense_Mutation	SNP	ENST00000380833.4	37	c.409G>T	CCDS14137.1	.	.	.	.	.	.	.	.	.	.	G	40	8.120628	0.98665	.	.	ENSG00000073464	ENST00000380833;ENST00000380829;ENST00000421085;ENST00000454850	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-38.6282	17.8431	0.88720	0.0:0.0:1.0:0.0	.	.	.	.	X	137;137;43;137	.	ENSP00000370209:E137X	E	+	1	0	CLCN4	10123115	1.000000	0.71417	0.995000	0.50966	0.765000	0.43378	9.667000	0.98616	2.147000	0.66899	0.292000	0.19580	GAG		PASS	0.557	CLCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055730.1			23	123	23	123	---	---	---	---
TLR7	51284	broad.mit.edu	37	X	12906213	12906213	+	Silent	SNP	C	C	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:12906213C>G	ENST00000380659.3	+	3	2725	c.2586C>G	c.(2584-2586)ctC>ctG	p.L862L		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	862					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)	p.L862L(1)		NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CAAGTCACCTCTATTTCTGGG	0.398																																						uc004cvc.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(2584-2586)CTC>CTG		toll-like receptor 7 precursor	Imiquimod(DB00724)						215.0	188.0	197.0					X																	12906213		2203	4300	6503	SO:0001819	synonymous_variant	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12906213C>G	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2586C>G	X.37:g.12906213C>G							p.L862L	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	2725	+			862			Cytoplasmic (Potential).		D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	c.2586C>G	CCDS14151.1																																																																																				PASS	0.398	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562		69	264	69	264	---	---	---	---
ATXN3L	92552	broad.mit.edu	37	X	13337087	13337087	+	Missense_Mutation	SNP	T	T	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:13337087T>C	ENST00000380622.2	-	1	1431	c.967A>G	c.(967-969)Agt>Ggt	p.S323G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	323					protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)	p.S323G(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						CTGAGATCACTCTCAATTGCT	0.448																																						uc010ned.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(967-969)AGT>GGT		ataxin 3-like							204.0	166.0	177.0					X																	13337087		1568	3582	5150	SO:0001583	missense	92552				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity	g.chrX:13337087T>C		CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.967A>G	X.37:g.13337087T>C	ENSP00000369996:p.Ser323Gly						p.S323G	NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN			1	1432	-			323					B2RNY8	Missense_Mutation	SNP	ENST00000380622.2	37	c.967A>G	CCDS48080.1	.	.	.	.	.	.	.	.	.	.	T	2.764	-0.257231	0.05791	.	.	ENSG00000123594	ENST00000380622	T	0.19250	2.16	0.793	-1.59	0.08453	.	0.943620	0.08961	N	0.868676	T	0.10337	0.0253	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.30387	-0.9980	9	0.42905	T	0.14	.	.	.	.	.	323	Q9H3M9	ATX3L_HUMAN	G	323	ENSP00000369996:S323G	ENSP00000369996:S323G	S	-	1	0	ATXN3L	13247008	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.673000	0.25203	-1.273000	0.02424	-0.690000	0.03725	AGT		PASS	0.448	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055785.2	NM_001135995		51	198	51	198	---	---	---	---
SYTL5	94122	broad.mit.edu	37	X	37984550	37984550	+	Splice_Site	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:37984550G>T	ENST00000357972.5	+	16	2387		c.e16-1		TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000456733.2_Splice_Site|SYTL5_ENST00000297875.2_Splice_Site			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)	p.?(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TTCTCATGCAGCTACCTGCTC	0.408																																						uc004ddu.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e17-1		synaptotagmin-like 5 isoform 1							72.0	63.0	66.0					X																	37984550		2202	4300	6502	SO:0001630	splice_region_variant	94122				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding	g.chrX:37984550G>T		CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.1842-1G>T	X.37:g.37984550G>T						SYTL5_uc004ddv.2_Splice_Site_p.G614_splice|SYTL5_uc004ddx.2_Splice_Site_p.G636_splice	p.G614_splice	NM_001163335	NP_001156807	Q8TDW5	SYTL5_HUMAN			17	2376	+								A2RRF2	Splice_Site	SNP	ENST00000357972.5	37	c.1842_splice	CCDS14244.1	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582934	0.65992	.	.	ENSG00000147041	ENST00000297875;ENST00000357972;ENST00000456733	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6181	0.91310	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SYTL5	37869494	1.000000	0.71417	1.000000	0.80357	0.648000	0.38561	9.824000	0.99380	2.341000	0.79615	0.513000	0.50165	.		PASS	0.408	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	Intron	25	24	25	24	---	---	---	---
GPR82	27197	broad.mit.edu	37	X	41586456	41586457	+	Missense_Mutation	DNP	TG	TG	CT			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:41586456_41586457TG>CT	ENST00000302548.4	+	3	417_418	c.177_178TG>CT	c.(175-180)acTGca>acCTca	p.A60S	CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378154.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron	NM_080817.4	NP_543007.1	Q96P67	GPR82_HUMAN	G protein-coupled receptor 82	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A60S(4)|p.T59T(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						ACCTTGTGACTGCAAACTTACT	0.376																																						uc004dfs.1																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)|pancreas(1)	2						c.(175-177)ACT>ACC|c.(178-180)GCA>TCA		G protein-coupled receptor 82																																				SO:0001583	missense	27197					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:41586456T>C|g.chrX:41586457G>T	AF411111	CCDS14259.1	Xp11.4	2012-08-21			ENSG00000171657	ENSG00000171657		"""GPCR / Class A : Orphans"""	4533	protein-coding gene	gene with protein product		300748				11574155	Standard	NM_080817		Approved		uc004dft.3	Q96P67	OTTHUMG00000021373	Exception_encountered	X.37:g.41586456_41586457delinsCT	ENSP00000303549:p.Ala60Ser					CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Silent_p.T59T|GPR82_uc004dfu.1_RNA|CASK_uc004dfl.3_Intron|CASK_uc004dfm.3_Intron|CASK_uc004dfn.3_Intron|GPR82_uc004dft.2_Missense_Mutation_p.A60S|GPR82_uc004dfu.1_RNA	p.T59T|p.A60S	NM_080817	NP_543007	Q96P67	GPR82_HUMAN			3	417|418	+			59|60			Helical; Name=2; (Potential).		Q5VT13	Silent|Missense_Mutation	SNP	ENST00000302548.4	37	c.177T>C|c.178G>T	CCDS14259.1																																																																																				PASS	0.376	GPR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056261.1	NM_080817		27|25	118|121	25	118	---	---	---	---
TIMM17B	10245	broad.mit.edu	37	X	48752384	48752384	+	Splice_Site	SNP	C	C	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:48752384C>G	ENST00000376582.3	-	4	275	c.127G>C	c.(127-129)Gga>Cga	p.G43R	TIMM17B_ENST00000495490.2_Splice_Site_p.G63R|TIMM17B_ENST00000472645.1_5'UTR|TIMM17B_ENST00000396779.3_Splice_Site_p.G93R|TIMM17B_ENST00000465150.2_Splice_Site_p.G93R|PQBP1_ENST00000376548.5_5'Flank|PQBP1_ENST00000447146.2_5'Flank|PQBP1_ENST00000247140.4_5'Flank|PQBP1_ENST00000376563.1_5'Flank|PQBP1_ENST00000376566.4_5'Flank	NM_005834.3	NP_005825.1	O60830	TI17B_HUMAN	translocase of inner mitochondrial membrane 17 homolog B (yeast)	43					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.G43R(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						TGCCGAATTCCCTGGGGAAAG	0.542																																						uc004dlc.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(127-129)GGA>CGA		translocase of inner mitochondrial membrane 17							53.0	36.0	41.0					X																	48752384		2200	4296	6496	SO:0001630	splice_region_variant	10245				protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chrX:48752384C>G	AF034790	CCDS14308.1, CCDS55411.1	Xp11.23	2008-02-05			ENSG00000126768	ENSG00000126768			17310	protein-coding gene	gene with protein product		300249				10339406	Standard	NM_001167947		Approved	DXS9822, JM3	uc004dla.2	O60830	OTTHUMG00000034498	ENST00000376582.3:c.127-1G>C	X.37:g.48752384C>G						PQBP1_uc004dle.2_5'Flank|PQBP1_uc004dlf.2_5'Flank|PQBP1_uc004dlg.2_5'Flank|PQBP1_uc004dld.2_5'Flank|TIMM17B_uc004dla.1_Missense_Mutation_p.G93R|TIMM17B_uc004dlb.1_Missense_Mutation_p.G63R	p.G43R	NM_005834	NP_005825	O60830	TI17B_HUMAN			4	276	-			43					A8K2E2|J3KPV3|Q9UJV0	Missense_Mutation	SNP	ENST00000376582.3	37	c.127G>C	CCDS14308.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938165	0.92526	.	.	ENSG00000126768	ENST00000376582;ENST00000396779	T;T	0.28255	1.75;1.62	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79636	-0.1721	10	0.87932	D	0	-12.4083	15.3649	0.74513	0.0:1.0:0.0:0.0	.	43	O60830	TI17B_HUMAN	R	43;93	ENSP00000365766:G43R;ENSP00000379999:G93R	ENSP00000365766:G43R	G	-	1	0	TIMM17B	48637328	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.007000	0.76335	2.335000	0.79485	0.529000	0.55759	GGA		PASS	0.542	TIMM17B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083411.2	NM_005834	Missense_Mutation	4	24	4	24	---	---	---	---
WDR45	11152	broad.mit.edu	37	X	48935748	48935748	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:48935748G>A	ENST00000376372.3	-	2	188	c.7C>T	c.(7-9)Caa>Taa	p.Q3*	WDR45_ENST00000485908.1_Nonsense_Mutation_p.Q3*|WDR45_ENST00000465431.1_5'UTR|WDR45_ENST00000322995.8_Nonsense_Mutation_p.Q3*|WDR45_ENST00000553851.1_Nonsense_Mutation_p.Q3*|WDR45_ENST00000396681.4_Nonsense_Mutation_p.Q3*|WDR45_ENST00000473974.1_Nonsense_Mutation_p.Q3*|WDR45_ENST00000376368.2_Nonsense_Mutation_p.Q3*|WDR45_ENST00000356463.3_Nonsense_Mutation_p.Q3*|AF196779.12_ENST00000376358.3_Nonsense_Mutation_p.Q3*	NM_001029896.1	NP_001025067.1	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	3					autophagy (GO:0006914)|cell death (GO:0008219)			p.Q3*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AGTGGCTGTTGAGTCATGGTG	0.517																																						uc004dmk.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(7-9)CAA>TAA		WD repeat domain 45 isoform 2							126.0	90.0	102.0					X																	48935748		2203	4300	6503	SO:0001587	stop_gained	11152				autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding	g.chrX:48935748G>A	BC003037	CCDS14318.1, CCDS35250.1	Xp11.23	2013-06-06	2004-09-02	2004-09-03	ENSG00000196998	ENSG00000196998		"""WD repeat domain containing"""	28912	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 5"""	300526	"""WD repeat domain, X-linked 1"""	WDRX1		12477932	Standard	NM_007075		Approved	JM5, WIPI4, NBIA5	uc004dmk.1	Q9Y484	OTTHUMG00000034500	ENST00000376372.3:c.7C>T	X.37:g.48935748G>A	ENSP00000365551:p.Gln3*					PRAF2_uc011mmt.1_Nonsense_Mutation_p.Q3*|WDR45_uc004dmj.1_5'Flank|WDR45_uc004dml.1_Nonsense_Mutation_p.Q3*|WDR45_uc004dmm.1_Nonsense_Mutation_p.Q3*|WDR45_uc010nim.1_Nonsense_Mutation_p.Q3*|WDR45_uc004dmn.1_5'UTR|WDR45_uc004dmo.1_Nonsense_Mutation_p.Q25*|WDR45_uc004dmp.1_Nonsense_Mutation_p.Q3*|WDR45_uc011mmu.1_Nonsense_Mutation_p.Q3*	p.Q3*	NM_001029896	NP_001025067	Q9Y484	WIPI4_HUMAN			2	179	-			3					A6NGH5|B7WPI2|Q5MNZ5|Q6IBS7|Q6NT94|Q96H03	Nonsense_Mutation	SNP	ENST00000376372.3	37	c.7C>T	CCDS35250.1	.	.	.	.	.	.	.	.	.	.	G	35	5.521675	0.96416	.	.	ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000196998;ENSG00000250232	ENST00000553851;ENST00000376372;ENST00000322995;ENST00000356463;ENST00000485908;ENST00000473974;ENST00000376368;ENST00000396681;ENST00000471338;ENST00000475880;ENST00000474053;ENST00000419567;ENST00000476728;ENST00000465382;ENST00000423215;ENST00000376358	.	.	.	3.87	3.87	0.44632	.	0.612659	0.15532	N	0.257410	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	0.9621	12.7001	0.57026	0.0:0.0:1.0:0.0	.	.	.	.	X	3	.	ENSP00000365536:Q3X	Q	-	1	0	AF196779.12;WDR45	48822692	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.561000	0.82288	1.872000	0.54250	0.468000	0.43344	CAA		PASS	0.517	WDR45-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083418.2	NM_007075		13	47	13	47	---	---	---	---
PPP1R3F	89801	broad.mit.edu	37	X	49143513	49143513	+	Silent	SNP	G	G	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:49143513G>T	ENST00000055335.6	+	4	2377	c.2361G>T	c.(2359-2361)ctG>ctT	p.L787L	PPP1R3F_ENST00000466508.1_Silent_p.L441L|PPP1R3F_ENST00000438316.1_Silent_p.L458L|PPP1R3F_ENST00000495799.1_Silent_p.L441L|PPP1R3F_ENST00000376188.1_Silent_p.L441L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	787					regulation of glycogen (starch) synthase activity (GO:2000465)|regulation of glycogen biosynthetic process (GO:0005979)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycogen binding (GO:2001069)|protein phosphatase binding (GO:0019903)	p.L787L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TGTCCCTCCTGGTGCTTGCGC	0.622																																						uc004dnh.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(2359-2361)CTG>CTT		protein phosphatase 1, regulatory (inhibitor)							62.0	48.0	53.0					X																	49143513		2203	4300	6503	SO:0001819	synonymous_variant	89801					integral to membrane		g.chrX:49143513G>T		CCDS35254.1, CCDS55415.1	Xp11.23	2012-04-17	2011-10-04		ENSG00000049769	ENSG00000049769		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14944	protein-coding gene	gene with protein product			"""protein phosphatase 1, regulatory (inhibitor) subunit 3F"""			11948623	Standard	NM_033215		Approved	Hb2E	uc004dnh.2	Q6ZSY5	OTTHUMG00000024139	ENST00000055335.6:c.2361G>T	X.37:g.49143513G>T						PPP1R3F_uc011mnd.1_Silent_p.L458L|PPP1R3F_uc004dni.2_Silent_p.L441L|PPP1R3F_uc004dnj.1_Silent_p.L441L	p.L787L	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN			4	2377	+	Ovarian(276;0.236)		787			Helical; (Potential).		A2VDJ8|B3KPW2|E9PCM3	Silent	SNP	ENST00000055335.6	37	c.2361G>T	CCDS35254.1																																																																																				PASS	0.622	PPP1R3F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060819.2	NM_033215		18	69	18	69	---	---	---	---
CCNB3	85417	broad.mit.edu	37	X	50053232	50053233	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:50053232_50053233CC>AA	ENST00000376042.1	+	6	2361_2362	c.2063_2064CC>AA	c.(2062-2064)tCC>tAA	p.S688*	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Nonsense_Mutation_p.S688*			Q8WWL7	CCNB3_HUMAN	cyclin B3	688					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.S688Y(2)|p.S688*(2)|p.S688S(2)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AAAAGTGGGTCCCTCTTCCAGG	0.455																																						uc004dox.3																			6	Substitution - Missense(2)|Substitution - Nonsense(2)|Substitution - coding silent(2)		lung(6)	ovary(4)|lung(3)|large_intestine(1)|pancreas(1)	9						c.(2062-2064)TCC>TAC|c.(2062-2064)TCC>TCA		cyclin B3 isoform 3																																				SO:0001587	stop_gained	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50053232C>A|g.chrX:50053233C>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	Exception_encountered	X.37:g.50053232_50053233delinsAA	ENSP00000365210:p.Ser688*					CCNB3_uc004doy.2_Missense_Mutation_p.S688Y|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron|CCNB3_uc004doy.2_Silent_p.S688S|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron	p.S688Y|p.S688S	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN			6	2361|2362	+	Ovarian(276;0.236)		688					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation|Silent	SNP	ENST00000376042.1	37	c.2063C>A|c.2064C>A	CCDS14331.1																																																																																				PASS	0.455	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			12	25	12	25	---	---	---	---
PHF8	23133	broad.mit.edu	37	X	54022203	54022203	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:54022203G>A	ENST00000357988.5	-	12	1712	c.1354C>T	c.(1354-1356)Cat>Tat	p.H452Y	PHF8_ENST00000338154.6_Missense_Mutation_p.H416Y|PHF8_ENST00000322659.8_Missense_Mutation_p.H416Y|PHF8_ENST00000338946.6_Missense_Mutation_p.H416Y	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	452					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|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)|zinc ion binding (GO:0008270)	p.H416Y(2)		endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCATCCTCATGGTCTGGCAGA	0.493																																						uc004dsu.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)	3						c.(1354-1356)CAT>TAT		PHD finger protein 8							80.0	59.0	66.0					X																	54022203		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54022203G>A	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.1354C>T	X.37:g.54022203G>A	ENSP00000350676:p.His452Tyr					PHF8_uc004dst.2_Missense_Mutation_p.H416Y|PHF8_uc004dsv.2_Missense_Mutation_p.H282Y|PHF8_uc004dsw.2_Missense_Mutation_p.H416Y|PHF8_uc004dsx.2_Missense_Mutation_p.H180Y|PHF8_uc004dsy.2_Missense_Mutation_p.H416Y	p.H452Y	NM_015107	NP_055922	Q9UPP1	PHF8_HUMAN			12	1427	-			452					B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.1354C>T	CCDS55420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.112839|4.112839	0.77210|0.77210	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000443302	T;T;T;T|.	0.50277|.	0.75;0.75;0.75;0.75|.	5.61|5.61	5.61|5.61	0.85477|0.85477	.|.	0.044956|.	0.85682|.	N|.	0.000000|.	T|T	0.68072|0.68072	0.2961|0.2961	L|L	0.46819|0.46819	1.47|1.47	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D|.	0.89917|.	1.0;0.997;0.998;0.999|.	D;D;D;D|.	0.85130|.	0.997;0.964;0.984;0.92|.	T|T	0.64778|0.64778	-0.6327|-0.6327	10|5	0.48119|.	T|.	0.1|.	-8.6382|-8.6382	17.2714|17.2714	0.87103|0.87103	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	416;416;452;452|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.	.;.;.;PHF8_HUMAN|.	Y|L	452;416;416;446;416|179	ENSP00000350676:H452Y;ENSP00000338868:H416Y;ENSP00000340051:H416Y;ENSP00000319473:H416Y|.	ENSP00000319473:H416Y|.	H|P	-|-	1|2	0|0	PHF8|PHF8	54038928|54038928	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.972000|0.972000	0.66771|0.66771	8.897000|8.897000	0.92532|0.92532	2.346000|2.346000	0.79739|0.79739	0.544000|0.544000	0.68410|0.68410	CAT|CCA		PASS	0.493	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107		6	30	6	30	---	---	---	---
HEPH	9843	broad.mit.edu	37	X	65414988	65414988	+	Missense_Mutation	SNP	A	A	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:65414988A>G	ENST00000343002.2	+	8	2082	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	HEPH_ENST00000519389.1_Missense_Mutation_p.Y527C|HEPH_ENST00000441993.2_Missense_Mutation_p.Y476C|HEPH_ENST00000419594.1_Missense_Mutation_p.Y476C|HEPH_ENST00000336279.5_Missense_Mutation_p.Y206C|HEPH_ENST00000374727.3_Missense_Mutation_p.Y476C			Q9BQS7	HEPH_HUMAN	hephaestin	473	Plastocyanin-like 3.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)	p.Y473C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GTGGTCTTCTACAACCGTGCC	0.507																																						uc011moz.1																			1	Substitution - Missense(1)		lung(1)	lung(5)|ovary(4)	9						c.(1426-1428)TAC>TGC		hephaestin isoform a							73.0	64.0	67.0					X																	65414988		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65414988A>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.1418A>G	X.37:g.65414988A>G	ENSP00000343939:p.Tyr473Cys					HEPH_uc004dwn.2_Missense_Mutation_p.Y476C|HEPH_uc004dwo.2_Missense_Mutation_p.Y206C|HEPH_uc010nkr.2_Missense_Mutation_p.Y476C|HEPH_uc011mpa.1_Missense_Mutation_p.Y476C	p.Y476C	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			9	1487	+			473			Extracellular (Potential).|Plastocyanin-like 3.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.1427A>G		.	.	.	.	.	.	.	.	.	.	A	13.62	2.292157	0.40594	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002;ENST00000425114	D;D;D;D;D;D;D	0.98937	-5.1;-5.1;-5.1;-5.1;-5.25;-5.1;-5.25	5.46	5.46	0.80206	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.538285	0.20292	N	0.095219	D	0.97879	0.9303	L	0.39245	1.2	0.28654	N	0.906502	D;D;D	0.61697	0.99;0.981;0.99	D;P;D	0.65140	0.932;0.662;0.91	D	0.94529	0.7734	10	0.44086	T	0.13	.	5.8636	0.18762	0.6662:0.1684:0.0:0.1654	.	527;476;473	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	C	527;476;206;476;476;473;473	ENSP00000430620:Y527C;ENSP00000363859:Y476C;ENSP00000337418:Y206C;ENSP00000411687:Y476C;ENSP00000413211:Y476C;ENSP00000343939:Y473C;ENSP00000398078:Y473C	ENSP00000337418:Y206C	Y	+	2	0	HEPH	65331713	0.107000	0.21998	0.999000	0.59377	0.868000	0.49771	0.567000	0.23608	1.833000	0.53350	0.430000	0.28490	TAC		PASS	0.507	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		35	31	35	31	---	---	---	---
NLGN3	54413	broad.mit.edu	37	X	70386935	70386935	+	Missense_Mutation	SNP	T	T	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:70386935T>G	ENST00000358741.3	+	7	1291	c.988T>G	c.(988-990)Tac>Gac	p.Y330D	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Missense_Mutation_p.Y310D|NLGN3_ENST00000536169.1_Missense_Mutation_p.Y290D	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	330					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)	p.Y310D(1)|p.Y330D(1)		biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACCAGTGAAGTACACCAGCCT	0.537																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	uc004dzd.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(988-990)TAC>GAC		neuroligin 3							88.0	69.0	75.0					X																	70386935		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70386935T>G	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.988T>G	X.37:g.70386935T>G	ENSP00000351591:p.Tyr330Asp					NLGN3_uc010nlb.1_Missense_Mutation_p.Y290D|NLGN3_uc004dzb.2_Missense_Mutation_p.Y310D|NLGN3_uc004dzc.2_Missense_Mutation_p.Y193D|NLGN3_uc011mps.1_Missense_Mutation_p.Y290D|NLGN3_uc004dze.2_Missense_Mutation_p.Y128D	p.Y330D	NM_018977	NP_061850	Q9NZ94	NLGN3_HUMAN			6	1188	+	Renal(35;0.156)		330			Extracellular (Potential).		B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.988T>G	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	T	15.34	2.805993	0.50421	.	.	ENSG00000196338	ENST00000536169;ENST00000542063;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.14	5.14	0.70334	Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	T	0.80979	0.4728	M	0.74546	2.27	0.80722	D	1	D;D;D	0.89917	0.998;0.993;1.0	D;D;D	0.87578	0.985;0.962;0.998	D	0.83435	0.0040	10	0.72032	D	0.01	.	14.1479	0.65362	0.0:0.0:0.0:1.0	.	290;330;310	D3DVV1;Q9NZ94;Q9NZ94-2	.;NLGN3_HUMAN;.	D	290;193;310;290;330	ENSP00000445298:Y290D;ENSP00000363163:Y310D;ENSP00000379196:Y290D;ENSP00000351591:Y330D	ENSP00000351591:Y330D	Y	+	1	0	NLGN3	70303660	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.868000	0.87116	1.916000	0.55485	0.352000	0.21897	TAC		PASS	0.537	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	NM_018977		15	38	15	38	---	---	---	---
CXCR3	2833	broad.mit.edu	37	X	70836522	70836522	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:70836522C>A	ENST00000373693.3	-	2	867	c.800G>T	c.(799-801)tGc>tTc	p.C267F	CXCR3_ENST00000373691.4_Missense_Mutation_p.C314F	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	267					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)	p.C267F(1)		breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					GGGGGTCCAGCAGAGGGCAAA	0.662																																						uc004eaf.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(799-801)TGC>TTC		chemokine (C-X-C motif) receptor 3 isoform A							30.0	28.0	29.0					X																	70836522		2203	4300	6503	SO:0001583	missense	2833				cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity	g.chrX:70836522C>A	U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.800G>T	X.37:g.70836522C>A	ENSP00000362797:p.Cys267Phe					BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Missense_Mutation_p.C314F	p.C267F	NM_001504	NP_001495	P49682	CXCR3_HUMAN			2	868	-	Renal(35;0.156)		267			Helical; Name=6; (Potential).		B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Missense_Mutation	SNP	ENST00000373693.3	37	c.800G>T	CCDS14416.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899339	0.52227	.	.	ENSG00000186810	ENST00000373691;ENST00000373693	T;T	0.52295	0.67;0.67	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.055332	0.64402	D	0.000001	T	0.55114	0.1900	L	0.33485	1.01	0.58432	D	0.999995	P;D	0.89917	0.871;1.0	P;D	0.91635	0.525;0.999	T	0.44174	-0.9345	10	0.13108	T	0.6	.	15.2124	0.73235	0.0:1.0:0.0:0.0	.	314;267	P49682-2;P49682	.;CXCR3_HUMAN	F	314;267	ENSP00000362795:C314F;ENSP00000362797:C267F	ENSP00000362795:C314F	C	-	2	0	CXCR3	70753247	1.000000	0.71417	1.000000	0.80357	0.154000	0.21943	3.863000	0.56016	2.476000	0.83614	0.544000	0.68410	TGC		PASS	0.662	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000144141.1			9	28	9	28	---	---	---	---
ZCCHC13	389874	broad.mit.edu	37	X	73524598	73524598	+	Missense_Mutation	SNP	A	A	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:73524598A>T	ENST00000339534.2	+	1	574	c.497A>T	c.(496-498)cAg>cTg	p.Q166L		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	166							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.Q166L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GGAATGTCCCAGTGAGGTTAC	0.517																																						uc004ebs.3																			1	Substitution - Missense(1)		lung(1)		0						c.(496-498)CAG>CTG		zinc finger, CCHC domain containing 13							39.0	34.0	36.0					X																	73524598		2203	4300	6503	SO:0001583	missense	389874						nucleic acid binding|zinc ion binding	g.chrX:73524598A>T	BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.497A>T	X.37:g.73524598A>T	ENSP00000345633:p.Gln166Leu						p.Q166L	NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN			1	574	+			166						Missense_Mutation	SNP	ENST00000339534.2	37	c.497A>T	CCDS14425.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.373072	0.24857	.	.	ENSG00000187969	ENST00000339534	.	.	.	4.32	3.17	0.36434	.	.	.	.	.	T	0.22898	0.0553	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.18398	-1.0338	8	0.87932	D	0	.	7.2815	0.26314	0.8914:0.0:0.1086:0.0	.	166	Q8WW36	ZCH13_HUMAN	L	166	.	ENSP00000345633:Q166L	Q	+	2	0	ZCCHC13	73441323	1.000000	0.71417	0.001000	0.08648	0.106000	0.19336	6.376000	0.73141	0.802000	0.34089	0.430000	0.28490	CAG		PASS	0.517	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1	NM_203303		13	69	13	69	---	---	---	---
MAGEE2	139599	broad.mit.edu	37	X	75003752	75003753	+	Nonsense_Mutation	DNP	GG	GG	TT			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:75003752_75003753GG>TT	ENST00000373359.2	-	1	1326_1327	c.1134_1135CC>AA	c.(1132-1137)taCCtc>taAAtc	p.378_379YL>*I		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	378	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.Y378*(1)|p.L379I(1)|p.Y378_L379>*(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGACAAGGAGGTAGATGTGCT	0.436																																						uc004ecj.1																			3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex - deletion inframe(1)		lung(3)	ovary(1)|skin(1)	2						c.(1135-1137)CTC>ATC|c.(1132-1134)TAC>TAA		melanoma antigen family E, 2																																				SO:0001587	stop_gained	139599							g.chrX:75003752G>T|g.chrX:75003753G>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1134_1135delinsTT	X.37:g.75003752_75003753delinsTT	ENSP00000362457:p.Y378_L379delins*I						p.L379I|p.Y378*	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	1320|1319	-			379|378			MAGE 2.		Q5JSI5	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000373359.2	37	c.1135C>A|c.1134C>A	CCDS14431.1																																																																																				PASS	0.436	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		87	91|90	87	90	---	---	---	---
MAGEE1	57692	broad.mit.edu	37	X	75648895	75648895	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:75648895C>A	ENST00000361470.2	+	1	850	c.572C>A	c.(571-573)aCc>aAc	p.T191N		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	191	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.T191N(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGGTGCCCACCCCTGATGAG	0.692																																						uc004ecm.1																			2	Substitution - Missense(2)		lung(2)	breast(3)|ovary(1)|pancreas(1)|skin(1)	6						c.(571-573)ACC>AAC		melanoma antigen family E, 1							29.0	25.0	27.0					X																	75648895		2201	4295	6496	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75648895C>A	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.572C>A	X.37:g.75648895C>A	ENSP00000354912:p.Thr191Asn						p.T191N	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			1	779	+			191			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.572C>A	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	C	7.066	0.567335	0.13560	.	.	ENSG00000198934	ENST00000361470	T	0.11385	2.78	2.05	0.106	0.14540	.	.	.	.	.	T	0.06050	0.0157	N	0.24115	0.695	0.09310	N	1	B	0.24186	0.099	B	0.12156	0.007	T	0.38394	-0.9663	9	0.35671	T	0.21	.	4.1792	0.10367	0.0:0.3585:0.4732:0.1683	.	191	Q9HCI5	MAGE1_HUMAN	N	191	ENSP00000354912:T191N	ENSP00000354912:T191N	T	+	2	0	MAGEE1	75565299	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.838000	0.04372	-0.079000	0.12707	-0.297000	0.09499	ACC		PASS	0.692	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932		9	37	9	37	---	---	---	---
P2RY10	27334	broad.mit.edu	37	X	78216995	78216995	+	Silent	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:78216995C>T	ENST00000171757.2	+	4	1258	c.978C>T	c.(976-978)tcC>tcT	p.S326S	P2RY10_ENST00000544091.1_Silent_p.S326S	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	326						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.S326S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TGACCCGCTCCCGCCTCATGA	0.428																																						uc004ede.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(2)|breast(1)	5						c.(976-978)TCC>TCT		G-protein coupled purinergic receptor P2Y10							98.0	95.0	96.0					X																	78216995		2203	4300	6503	SO:0001819	synonymous_variant	27334					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78216995C>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.978C>T	X.37:g.78216995C>T						P2RY10_uc004edf.2_Silent_p.S326S	p.S326S	NM_014499	NP_055314	O00398	P2Y10_HUMAN			4	1347	+			326			Cytoplasmic (Potential).		D3DTE5|Q4VBN7|Q86V16	Silent	SNP	ENST00000171757.2	37	c.978C>T	CCDS14442.1																																																																																				PASS	0.428	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1			99	101	99	101	---	---	---	---
CHM	1121	broad.mit.edu	37	X	85218964	85218964	+	Silent	SNP	A	A	G			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:85218964A>G	ENST00000357749.2	-	5	437	c.408T>C	c.(406-408)tcT>tcC	p.S136S	CHM_ENST00000537751.1_5'UTR|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	136					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)	p.S136S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GCAGGAAGGCAGAATCTGCAG	0.453																																						uc004eet.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(406-408)TCT>TCC		choroideremia isoform a							83.0	72.0	76.0					X																	85218964		2203	4300	6503	SO:0001819	synonymous_variant	1121				intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chrX:85218964A>G	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.408T>C	X.37:g.85218964A>G						CHM_uc011mqz.1_5'UTR	p.S136S	NM_000390	NP_000381	P24386	RAE1_HUMAN			5	438	-		all_lung(315;5.41e-06)	136					A1L4D2|O43732	Silent	SNP	ENST00000357749.2	37	c.408T>C	CCDS14454.1																																																																																				PASS	0.453	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390		28	103	28	103	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	85994853	85994853	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:85994853C>T	ENST00000373125.4	+	7	1208	c.1208C>T	c.(1207-1209)cCc>cTc	p.P403L	DACH2_ENST00000373131.1_Missense_Mutation_p.P390L|DACH2_ENST00000508860.1_Missense_Mutation_p.P236L|DACH2_ENST00000510272.1_Missense_Mutation_p.P184L	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	403					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.P403L(1)|p.P390L(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						TCCAGCTCTCCCTCTCAGATG	0.453																																						uc004eew.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1207-1209)CCC>CTC		dachshund 2 isoform a							71.0	56.0	61.0					X																	85994853		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85994853C>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.1208C>T	X.37:g.85994853C>T	ENSP00000362217:p.Pro403Leu					DACH2_uc004eex.2_Missense_Mutation_p.P390L|DACH2_uc010nmq.2_Missense_Mutation_p.P269L|DACH2_uc011mra.1_Missense_Mutation_p.P236L|DACH2_uc010nmr.2_Missense_Mutation_p.P184L|DACH2_uc004eey.2_Missense_Mutation_p.P86L|DACH2_uc004eez.2_Missense_Mutation_p.P86L	p.P403L	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			7	1378	+			403					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1208C>T	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464218	0.84425	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.85088	-1.92;-1.94	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000002	D	0.91126	0.7206	M	0.67397	2.05	0.80722	D	1	D;P;D;B	0.89917	0.998;0.78;1.0;0.236	P;B;D;B	0.91635	0.904;0.247;0.999;0.031	D	0.89794	0.3970	10	0.30078	T	0.28	.	17.4897	0.87700	0.0:1.0:0.0:0.0	.	269;403;390;403	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	L	403;390;403;236;184;236;58	ENSP00000362223:P390L;ENSP00000362217:P403L	ENSP00000345134:P403L	P	+	2	0	DACH2	85881509	1.000000	0.71417	0.987000	0.45799	0.915000	0.54546	6.763000	0.74955	2.056000	0.61249	0.506000	0.49869	CCC		PASS	0.453	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		8	29	8	29	---	---	---	---
DACH2	117154	broad.mit.edu	37	X	86067939	86067939	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:86067939G>A	ENST00000373125.4	+	8	1321	c.1321G>A	c.(1321-1323)Gga>Aga	p.G441R	DACH2_ENST00000373131.1_Missense_Mutation_p.G428R|DACH2_ENST00000508860.1_Missense_Mutation_p.G274R|DACH2_ENST00000510272.1_Missense_Mutation_p.G222R	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	441					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.G428R(1)|p.G441R(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						ATTGCCCGCTGGATTCCCTGG	0.413																																						uc004eew.2																			2	Substitution - Missense(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(1321-1323)GGA>AGA		dachshund 2 isoform a							55.0	51.0	52.0					X																	86067939		2203	4300	6503	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:86067939G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.1321G>A	X.37:g.86067939G>A	ENSP00000362217:p.Gly441Arg					DACH2_uc004eex.2_Missense_Mutation_p.G428R|DACH2_uc010nmq.2_Missense_Mutation_p.G307R|DACH2_uc011mra.1_Missense_Mutation_p.G274R|DACH2_uc010nmr.2_Missense_Mutation_p.G222R|DACH2_uc004eey.2_Missense_Mutation_p.G124R|DACH2_uc004eez.2_Missense_Mutation_p.G124R	p.G441R	NM_053281	NP_444511	Q96NX9	DACH2_HUMAN			8	1491	+			441					B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.1321G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	18.73	3.685659	0.68157	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000510272;ENST00000400297;ENST00000484479	D;D	0.84223	-1.81;-1.82	4.86	4.0	0.46444	.	0.000000	0.64402	D	0.000004	D	0.89691	0.6788	M	0.65975	2.015	0.50039	D	0.999844	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;0.993;1.0;0.997	D	0.87641	0.2522	10	0.41790	T	0.15	.	9.101	0.36669	0.1727:0.0:0.8273:0.0	.	307;441;428;441	Q1RMF5;A8K3I1;Q96NX9-2;Q96NX9	.;.;.;DACH2_HUMAN	R	441;428;441;274;222;274;96	ENSP00000362223:G428R;ENSP00000362217:G441R	ENSP00000345134:G441R	G	+	1	0	DACH2	85954595	1.000000	0.71417	0.931000	0.37212	0.949000	0.60115	5.940000	0.70187	0.845000	0.35118	0.513000	0.50165	GGA		PASS	0.413	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		31	21	31	21	---	---	---	---
RNF113A	7737	broad.mit.edu	37	X	119005420	119005420	+	Missense_Mutation	SNP	C	C	T			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:119005420C>T	ENST00000371442.2	-	1	371	c.157G>A	c.(157-159)Gtg>Atg	p.V53M	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	53							zinc ion binding (GO:0008270)	p.V53M(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GGTCGAACCACAGTGCAGCCT	0.602																																						uc004esb.2																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(157-159)GTG>ATG		ring finger protein 113A							140.0	135.0	136.0					X																	119005420		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119005420C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.157G>A	X.37:g.119005420C>T	ENSP00000360497:p.Val53Met					NDUFA1_uc004esc.3_5'Flank	p.V53M	NM_006978	NP_008909	O15541	R113A_HUMAN			1	372	-			53					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.157G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636190	0.67130	.	.	ENSG00000125352	ENST00000371442	T	0.35048	1.33	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	M	0.89095	3.005	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.72093	-0.4394	10	0.66056	D	0.02	-8.7491	13.7608	0.62966	0.0:1.0:0.0:0.0	.	53	O15541	R113A_HUMAN	M	53	ENSP00000360497:V53M	ENSP00000360497:V53M	V	-	1	0	RNF113A	118889448	0.997000	0.39634	0.966000	0.40874	0.635000	0.38103	4.605000	0.61119	2.318000	0.78349	0.600000	0.82982	GTG		PASS	0.602	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		69	231	69	231	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123556176	123556176	+	Missense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:123556176C>A	ENST00000371130.3	-	23	4459	c.4396G>T	c.(4396-4398)Ggt>Tgt	p.G1466C	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.G1473C	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1466					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.G1468C(1)									GTGGGGGCACCAGCGATGATG	0.473																																						uc004euj.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(4396-4398)GGT>TGT		odz, odd Oz/ten-m homolog 1 isoform 3							165.0	116.0	133.0					X																	123556176		2203	4300	6503	SO:0001583	missense	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123556176C>A	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.4396G>T	X.37:g.123556176C>A	ENSP00000360171:p.Gly1466Cys					ODZ1_uc011muj.1_Missense_Mutation_p.G1472C|ODZ1_uc010nqy.2_Missense_Mutation_p.G1473C	p.G1466C	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			23	4460	-			1466			Extracellular (Potential).		B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.4396G>T	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634202	0.87660	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90620	-2.7;-2.7	5.58	5.58	0.84498	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97526	0.9190	H	0.98276	4.19	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.994	D	0.99253	1.0888	10	0.87932	D	0	.	18.6145	0.91297	0.0:1.0:0.0:0.0	.	1472;1473;1466	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	1466;1473	ENSP00000360171:G1466C;ENSP00000403954:G1473C	ENSP00000360171:G1466C	G	-	1	0	ODZ1	123383857	1.000000	0.71417	0.974000	0.42286	0.946000	0.59487	7.729000	0.84864	2.339000	0.79563	0.594000	0.82650	GGT		PASS	0.473	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		37	145	37	145	---	---	---	---
SMARCA1	6594	broad.mit.edu	37	X	128649954	128649954	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:128649954G>A	ENST00000371122.4	-	4	575	c.446C>T	c.(445-447)aCa>aTa	p.T149I	SMARCA1_ENST00000371123.1_Missense_Mutation_p.T149I|SMARCA1_ENST00000478420.1_5'UTR|SMARCA1_ENST00000371121.3_Missense_Mutation_p.T149I	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	149					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.T149I(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTCTTGCTCTGTGCGCCTATG	0.373																																						uc004eun.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(445-447)ACA>ATA		SWI/SNF-related matrix-associated							162.0	130.0	140.0					X																	128649954		2203	4300	6503	SO:0001583	missense	6594				ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding	g.chrX:128649954G>A	M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.446C>T	X.37:g.128649954G>A	ENSP00000360163:p.Thr149Ile					SMARCA1_uc004eup.3_Missense_Mutation_p.T149I|SMARCA1_uc011muk.1_Missense_Mutation_p.T149I|SMARCA1_uc011mul.1_Missense_Mutation_p.T149I	p.T149I	NM_003069	NP_003060	P28370	SMCA1_HUMAN			4	559	-			149					Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	c.446C>T	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577128	0.86645	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.96	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000003	D	0.96605	0.8892	M	0.88979	2.995	0.80722	D	1	D;D;D;D	0.69078	0.996;0.996;0.997;0.996	D;D;D;D	0.71870	0.944;0.944;0.975;0.944	D	0.97475	1.0043	10	0.87932	D	0	-13.5956	17.7767	0.88511	0.0:0.0:1.0:0.0	.	128;149;149;149	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	I	149;149;149;128	ENSP00000360162:T149I;ENSP00000360164:T149I;ENSP00000360163:T149I;ENSP00000404275:T128I	ENSP00000360162:T149I	T	-	2	0	SMARCA1	128477635	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.845000	0.99498	2.129000	0.65627	0.544000	0.68410	ACA		PASS	0.373	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069		118	74	118	74	---	---	---	---
STK26	51765	broad.mit.edu	37	X	131188764	131188764	+	Missense_Mutation	SNP	G	G	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:131188764G>A	ENST00000354719.6	+	3	364	c.148G>A	c.(148-150)Gtt>Att	p.V50I	MST4_ENST00000394335.2_Intron|MST4_ENST00000496850.1_Missense_Mutation_p.V50I|MST4_ENST00000394334.2_Missense_Mutation_p.V50I|MST4_ENST00000481105.1_Missense_Mutation_p.V50I														p.V50I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CCAGCAAGTCGTTGCTATTAA	0.398													G|||	1	0.000264901	0.0008	0.0	3775	,	,		12618	0.0		0.0	False		,,,				2504	0.0					uc004ewk.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(3)|stomach(2)|upper_aerodigestive_tract(1)	9						c.(148-150)GTT>ATT		serine/threonine protein kinase MST4 isoform 1							82.0	75.0	77.0					X																	131188764		2203	4300	6503	SO:0001583	missense	51765				cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:131188764G>A																												ENST00000354719.6:c.148G>A	X.37:g.131188764G>A	ENSP00000346755:p.Val50Ile					MST4_uc004ewl.1_Intron|MST4_uc011mux.1_Missense_Mutation_p.V50I|MST4_uc010nrj.1_Missense_Mutation_p.V50I|MST4_uc004ewm.1_Missense_Mutation_p.V50I	p.V50I	NM_016542	NP_057626	Q9P289	MST4_HUMAN			3	449	+	Acute lymphoblastic leukemia(192;0.000127)		50			Protein kinase.			Missense_Mutation	SNP	ENST00000354719.6	37	c.148G>A		.	.	.	.	.	.	.	.	.	.	G	34	5.367092	0.95900	.	.	ENSG00000134602	ENST00000394334;ENST00000481105;ENST00000354719;ENST00000496850	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.3	5.3	0.74995	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000020	D	0.84120	0.5402	M	0.74258	2.255	0.80722	D	1	D;P;D;D	0.89917	1.0;0.941;0.994;0.958	D;P;D;D	0.75484	0.986;0.893;0.927;0.935	D	0.85738	0.1335	10	0.66056	D	0.02	.	17.991	0.89169	0.0:0.0:1.0:0.0	.	50;50;50;50	B4E0Y9;Q8NBY1;Q9P289-3;Q9P289	.;.;.;MST4_HUMAN	I	50	ENSP00000377867:V50I;ENSP00000418753:V50I;ENSP00000346755:V50I;ENSP00000419702:V50I	ENSP00000346755:V50I	V	+	1	0	AL109749.1	131016445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.657000	0.98554	2.440000	0.82611	0.594000	0.82650	GTT		PASS	0.398	MST4-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000058308.2			25	109	25	109	---	---	---	---
GPC3	2719	broad.mit.edu	37	X	132887631	132887631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:132887631C>A	ENST00000370818.3	-	3	1355	c.910G>T	c.(910-912)Gaa>Taa	p.E304*	GPC3_ENST00000543339.1_Nonsense_Mutation_p.E250*|GPC3_ENST00000394299.2_Nonsense_Mutation_p.E304*	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	304					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)	p.E304*(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACAAGTTCTTCAAGGGACAGA	0.443			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													uc004exe.1			yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	T|D|Mis|N|F|S	glypican 3			O		Wilms tumour			1	Substitution - Nonsense(1)		lung(1)	lung(2)|prostate(1)|breast(1)|skin(1)	5						c.(910-912)GAA>TAA		glypican 3 isoform 2 precursor							595.0	385.0	456.0					X																	132887631		2203	4300	6503	SO:0001587	stop_gained	2719	Simpson-Golabi-Behmel_syndrome	Familial Cancer Database	SGBS		extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity	g.chrX:132887631C>A	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.910G>T	X.37:g.132887631C>A	ENSP00000359854:p.Glu304*					GPC3_uc004exd.1_Nonsense_Mutation_p.E176*|GPC3_uc010nrn.1_Nonsense_Mutation_p.E304*|GPC3_uc011mvh.1_Nonsense_Mutation_p.E288*|GPC3_uc010nro.1_Nonsense_Mutation_p.E250*|GPC3_uc010nrp.1_Nonsense_Mutation_p.E176*	p.E304*	NM_004484	NP_004475	P51654	GPC3_HUMAN			3	1100	-	Acute lymphoblastic leukemia(192;0.000127)		304					C9JLE3|G3V1R0|Q2L880|Q2L882	Nonsense_Mutation	SNP	ENST00000370818.3	37	c.910G>T	CCDS14638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.065289|6.065289	0.97251|0.97251	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339|ENST00000406757	.|T	.|0.65549	.|-0.16	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.098719|.	0.64402|.	D|.	0.000001|.	.|T	.|0.77491	.|0.4138	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79888	.|-0.1613	.|5	0.72032|0.72032	D|D	0.01|0.01	.|.	17.6993|17.6993	0.88290|0.88290	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|F	304;304;250|33	.|ENSP00000385307:L33F	ENSP00000359854:E304X|ENSP00000385307:L33F	E|L	-|-	1|3	0|2	GPC3|GPC3	132715297|132715297	1.000000|1.000000	0.71417|0.71417	0.976000|0.976000	0.42696|0.42696	0.943000|0.943000	0.58893|0.58893	7.426000|7.426000	0.80270|0.80270	2.397000|2.397000	0.81536|0.81536	0.594000|0.594000	0.82650|0.82650	GAA|TTG		PASS	0.443	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058356.1	NM_004484		48	181	48	181	---	---	---	---
FHL1	2273	broad.mit.edu	37	X	135290627	135290627	+	Missense_Mutation	SNP	G	G	C			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:135290627G>C	ENST00000345434.3	+	5	596	c.515G>C	c.(514-516)gGa>gCa	p.G172A	FHL1_ENST00000539015.1_Missense_Mutation_p.G201A|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000394153.2_Missense_Mutation_p.G172A|FHL1_ENST00000370683.1_Missense_Mutation_p.G188A|FHL1_ENST00000543669.1_Missense_Mutation_p.G172A|FHL1_ENST00000394155.2_Missense_Mutation_p.G172A|FHL1_ENST00000370690.3_Missense_Mutation_p.G172A|FHL1_ENST00000535737.1_Missense_Mutation_p.G172A			Q13642	FHL1_HUMAN	four and a half LIM domains 1	172	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)	p.G172A(2)|p.G201A(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					ATCACATCTGGAGGAATCACT	0.542																																						uc004ezo.2																			3	Substitution - Missense(3)		lung(3)		0						c.(514-516)GGA>GCA		four and a half LIM domains 1 isoform 1							221.0	179.0	193.0					X																	135290627		2203	4300	6503	SO:0001583	missense	2273				cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding	g.chrX:135290627G>C	U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.515G>C	X.37:g.135290627G>C	ENSP00000071281:p.Gly172Ala					FHL1_uc010nrz.2_Missense_Mutation_p.G172A|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Missense_Mutation_p.G172A|FHL1_uc004ezq.2_Intron|FHL1_uc011mvy.1_Missense_Mutation_p.G172A|FHL1_uc011mvz.1_Missense_Mutation_p.G172A|FHL1_uc004ezn.2_Missense_Mutation_p.G172A|FHL1_uc011mwa.1_Missense_Mutation_p.G201A|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Missense_Mutation_p.G188A|FHL1_uc004ezr.2_5'UTR	p.G172A	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN			5	615	+	Acute lymphoblastic leukemia(192;0.000127)		172			LIM zinc-binding 3.		B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	ENST00000345434.3	37	c.515G>C	CCDS55507.1	.	.	.	.	.	.	.	.	.	.	g	18.16	3.562586	0.65538	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D;D;D;D;D	0.86562	-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14;-2.14	4.65	4.65	0.58169	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.92247	0.7541	M	0.81614	2.55	0.80722	D	1	P;D;D	0.54772	0.932;0.968;0.963	P;P;P	0.57057	0.768;0.776;0.812	D	0.93575	0.6907	10	0.72032	D	0.01	.	16.901	0.86113	0.0:0.0:1.0:0.0	.	201;188;172	B7Z793;B7Z5T4;Q13642	.;.;FHL1_HUMAN	A	172;172;152;172;172;172;172;172;172;172;212;172;201;188;167;172	ENSP00000377710:G172A;ENSP00000359724:G172A;ENSP00000391779:G172A;ENSP00000444815:G172A;ENSP00000408038:G172A;ENSP00000413798:G172A;ENSP00000443333:G172A;ENSP00000377709:G172A;ENSP00000412642:G172A;ENSP00000071281:G172A;ENSP00000437673:G201A;ENSP00000359717:G188A;ENSP00000359708:G172A	ENSP00000071281:G172A	G	+	2	0	FHL1	135118293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.472000	0.97709	1.906000	0.55180	0.431000	0.28591	GGA		PASS	0.542	FHL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058461.1	NM_001449		137	147	137	147	---	---	---	---
SLITRK2	84631	broad.mit.edu	37	X	144905394	144905394	+	Missense_Mutation	SNP	G	G	T	rs141011265		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chrX:144905394G>T	ENST00000370490.1	+	1	5706	c.1451G>T	c.(1450-1452)cGg>cTg	p.R484L	SLITRK2_ENST00000413937.2_Missense_Mutation_p.R484L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R484L|SLITRK2_ENST00000434188.2_Missense_Mutation_p.R484L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R484L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	484					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R484L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AACCTTCTTCGGTCCTTACCT	0.418																																						uc004fcd.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(1)|pancreas(1)	7						c.(1450-1452)CGG>CTG		SLIT and NTRK-like family, member 2 precursor							135.0	142.0	140.0					X																	144905394		2203	4300	6503	SO:0001583	missense	84631					integral to membrane		g.chrX:144905394G>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.1451G>T	X.37:g.144905394G>T	ENSP00000359521:p.Arg484Leu					SLITRK2_uc010nsp.2_Missense_Mutation_p.R484L|SLITRK2_uc010nso.2_Missense_Mutation_p.R484L|SLITRK2_uc011mwq.1_Missense_Mutation_p.R484L|SLITRK2_uc011mwr.1_Missense_Mutation_p.R484L|SLITRK2_uc011mws.1_Missense_Mutation_p.R484L|SLITRK2_uc004fcg.2_Missense_Mutation_p.R484L|SLITRK2_uc011mwt.1_Missense_Mutation_p.R484L	p.R484L	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN			5	2441	+	Acute lymphoblastic leukemia(192;6.56e-05)		484			Extracellular (Potential).|LRR 11.		A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Missense_Mutation	SNP	ENST00000370490.1	37	c.1451G>T	CCDS14680.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016349	0.75161	.	.	ENSG00000185985	ENST00000335565;ENST00000447897;ENST00000370490;ENST00000434188;ENST00000413937;ENST00000428560	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.45352	1.415	0.58432	D	0.999999	D	0.57257	0.979	P	0.52424	0.698	T	0.55891	-0.8069	10	0.66056	D	0.02	-8.4452	16.2774	0.82651	0.0:0.0:1.0:0.0	.	484	Q9H156	SLIK2_HUMAN	L	484	ENSP00000334374:R484L;ENSP00000411681:R484L;ENSP00000359521:R484L;ENSP00000397015:R484L;ENSP00000407347:R484L;ENSP00000412010:R484L	ENSP00000334374:R484L	R	+	2	0	SLITRK2	144713086	1.000000	0.71417	0.990000	0.47175	0.748000	0.42578	6.721000	0.74728	2.448000	0.82819	0.600000	0.82982	CGG		PASS	0.418	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		170	178	170	178	---	---	---	---
OTOL1	131149	broad.mit.edu	37	3	161221119	161221119	+	Frame_Shift_Del	DEL	G	G	-			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr3:161221119delG	ENST00000327928.4	+	4	823	c.823delG	c.(823-825)ggcfs	p.G275fs		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	275						collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TGGAATGGAAGGCAAAAGCGG	0.542																																						uc011bpb.1																			0					0						c.(823-825)GGCfs		otolin-1 precursor							12.0	14.0	13.0					3																	161221119		1973	4150	6123	SO:0001589	frameshift_variant	131149					collagen		g.chr3:161221119delG		CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.823delG	3.37:g.161221119delG	ENSP00000330808:p.Gly275fs						p.G275fs	NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN			4	823	+			275						Frame_Shift_Del	DEL	ENST00000327928.4	37	c.823delG	CCDS46948.1																																																																																					0.542	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353184.1	NM_001080440		20	20	20	20	---	---	---	---
PCDHA11	56138	broad.mit.edu	37	5	140250029	140250029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr5:140250029delG	ENST00000398640.2	+	1	1341	c.1341delG	c.(1339-1341)gtgfs	p.V447fs	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	447	Cadherin 4. {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)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCGACGTGAACGACAATG	0.637																																						uc003lia.2																			0				breast(1)	1						c.(1339-1341)GTGfs		protocadherin alpha 11 isoform 1 precursor							140.0	143.0	142.0					5																	140250029		2203	4300	6503	SO:0001589	frameshift_variant	56138				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140250029delG	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1341delG	5.37:g.140250029delG	ENSP00000381636:p.Val447fs					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_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Frame_Shift_Del_p.V447fs	p.V447fs	NM_018902	NP_061725	Q9Y5I1	PCDAB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2199	+			447			Cadherin 4.|Extracellular (Potential).		B2RN58|O75279	Frame_Shift_Del	DEL	ENST00000398640.2	37	c.1341delG	CCDS47284.1																																																																																					0.637	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		61	137	61	137	---	---	---	---
DSP	1832	broad.mit.edu	37	6	7581127	7581142	+	Frame_Shift_Del	DEL	GCAGAAGCAGAAGGTG	GCAGAAGCAGAAGGTG	-	rs370171270|rs375381133		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr6:7581127_7581142delGCAGAAGCAGAAGGTG	ENST00000379802.3	+	23	5045_5060	c.4704_4719delGCAGAAGCAGAAGGTG	c.(4702-4719)ctgcagaagcagaaggtgfs	p.LQKQKV1568fs	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1568	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGC	0.551																																						uc003mxp.1																			0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(4702-4719)CTGCAGAAGCAGAAGGTGfs		desmoplakin isoform I																																				SO:0001589	frameshift_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581127_7581142delGCAGAAGCAGAAGGTG	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4704_4719delGCAGAAGCAGAAGGTG	6.37:g.7581127_7581142delGCAGAAGCAGAAGGTG	ENSP00000369129:p.Leu1568fs					DSP_uc003mxq.1_Intron	p.L1568fs	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4983_4998	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1568_1573			Central fibrous rod domain.|Potential.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Frame_Shift_Del	DEL	ENST00000379802.3	37	c.4704_4719delGCAGAAGCAGAAGGTG	CCDS4501.1																																																																																					0.551	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		34	47	34	47	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61689381	61689381	+	Frame_Shift_Del	DEL	C	C	-	rs369865177		TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr16:61689381delC	ENST00000577390.1	-	11	2853	c.1899delG	c.(1897-1899)ttgfs	p.L635fs	CDH8_ENST00000577730.1_Frame_Shift_Del_p.L635fs|CDH8_ENST00000299345.6_Frame_Shift_Del_p.L635fs	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	635					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TACCTAACAGCAAAATGATGC	0.428																																						uc002eog.1																			0				ovary(6)|skin(2)|breast(1)	9						c.(1897-1899)TTGfs		cadherin 8, type 2 preproprotein							90.0	75.0	80.0					16																	61689381		2203	4300	6503	SO:0001589	frameshift_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61689381delC	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1899delG	16.37:g.61689381delC	ENSP00000462701:p.Leu635fs						p.L633fs	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	11	2151	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	633			Helical; (Potential).		B3KWC1|Q14DC6|Q9ULB2	Frame_Shift_Del	DEL	ENST00000577390.1	37	c.1899delG	CCDS10802.1																																																																																					0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		26	53	26	53	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991632	72991636	+	Frame_Shift_Del	DEL	GCCAG	GCCAG	-			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr16:72991632_72991636delGCCAG	ENST00000268489.5	-	2	3081_3085	c.2409_2413delCTGGC	c.(2407-2415)acctggcggfs	p.WR804fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	804					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACCTCGCACCGCCAGGTGGGTTTGG	0.615																																						uc002fck.2																			0				ovary(2)|skin(2)	4						c.(2407-2415)ACCTGGCGGfs		zinc finger homeobox 3 isoform A																																				SO:0001589	frameshift_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991632_72991636delGCCAG	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2409_2413delCTGGC	16.37:g.72991632_72991636delGCCAG	ENSP00000268489:p.Trp804fs					ZFHX3_uc002fcl.2_Intron	p.T803fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			2	3082_3086	-		Ovarian(137;0.13)	803_805			C2H2-type 5; atypical.		D3DWS8|O15101|Q13719	Frame_Shift_Del	DEL	ENST00000268489.5	37	c.2409_2413delCTGGC	CCDS10908.1																																																																																					0.615	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		53	54	53	54	---	---	---	---
OSER1	51526	broad.mit.edu	37	20	42831626	42831626	+	Frame_Shift_Del	DEL	A	A	-			TCGA-34-5240-01A-01D-1441-08	TCGA-34-5240-10A-01D-1441-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	4c3840df-9824-40db-879e-6d24adc8c155	332ac9eb-64c2-474d-b772-07e504f3655d	g.chr20:42831626delA	ENST00000372970.2	-	5	346	c.166delT	c.(166-168)tgtfs	p.C56fs	OSER1_ENST00000255174.2_Frame_Shift_Del_p.C56fs			Q9NX31	OSER1_HUMAN	oxidative stress responsive serine-rich 1	56					cellular response to hydrogen peroxide (GO:0070301)												TTAGATGCACATGTGGTTTTA	0.408																																						uc002xlk.2																			0					0						c.(166-168)TGTfs		oxidative stress responsive 1							202.0	154.0	170.0					20																	42831626		2203	4300	6503	SO:0001589	frameshift_variant	51526							g.chr20:42831626delA	AL035447	CCDS13327.1	20q13.11	2013-05-17	2013-05-17	2013-05-17	ENSG00000132823	ENSG00000132823			16105	protein-coding gene	gene with protein product	"""peroxide-inducible transcript 1"", ""oxidative stress-responsive 1"""		"""chromosome 20 open reading frame 111"""	C20orf111		17148688	Standard	NM_016470		Approved	dJ1183I21.1, HSPC207, Perit1, Osr1		Q9NX31	OTTHUMG00000032518	ENST00000372970.2:c.166delT	20.37:g.42831626delA	ENSP00000362061:p.Cys56fs						p.C56fs	NM_016470	NP_057554	Q9NX31	CT111_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		3	303	-		Myeloproliferative disorder(115;0.028)	56					B2RCK4|O95912|Q9NZ84|Q9P0R8	Frame_Shift_Del	DEL	ENST00000372970.2	37	c.166delT	CCDS13327.1																																																																																					0.408	OSER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079334.2	NM_016470		60	37	60	37	---	---	---	---
